Incidental Mutation 'R5478:Pum1'
| ID |
434151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pum1
|
| Ensembl Gene |
ENSMUSG00000028580 |
| Gene Name |
pumilio RNA-binding family member 1 |
| Synonyms |
Pumm |
| MMRRC Submission |
043039-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.877)
|
| Stock # |
R5478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
130390632-130508875 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 130478795 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 472
(N472K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030315]
[ENSMUST00000097862]
[ENSMUST00000097864]
[ENSMUST00000105991]
[ENSMUST00000105992]
[ENSMUST00000143277]
|
| AlphaFold |
Q80U78 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030315
AA Change: N569K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030315
Gene: ENSMUSG00000028580
AA Change: N569K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
458 |
N/A |
INTRINSIC |
|
low complexity region
|
476 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
528 |
539 |
N/A |
INTRINSIC |
|
low complexity region
|
584 |
615 |
N/A |
INTRINSIC |
|
low complexity region
|
627 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
666 |
N/A |
INTRINSIC |
|
low complexity region
|
672 |
696 |
N/A |
INTRINSIC |
|
low complexity region
|
731 |
741 |
N/A |
INTRINSIC |
|
low complexity region
|
763 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
798 |
816 |
N/A |
INTRINSIC |
|
Pumilio
|
849 |
884 |
1.75e-6 |
SMART |
|
Pumilio
|
885 |
920 |
4.03e-6 |
SMART |
|
Pumilio
|
921 |
955 |
5.24e-5 |
SMART |
|
Pumilio
|
959 |
994 |
3.37e-8 |
SMART |
|
Pumilio
|
995 |
1030 |
6.29e-8 |
SMART |
|
Pumilio
|
1031 |
1066 |
1.04e-8 |
SMART |
|
Pumilio
|
1067 |
1102 |
6.2e-7 |
SMART |
|
Pumilio
|
1110 |
1145 |
8.77e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083262
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097862
AA Change: N568K
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000095474
Gene: ENSMUSG00000028580
AA Change: N568K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
665 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
695 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
815 |
N/A |
INTRINSIC |
|
Pumilio
|
848 |
883 |
1.75e-6 |
SMART |
|
Pumilio
|
884 |
919 |
4.03e-6 |
SMART |
|
Pumilio
|
920 |
954 |
5.24e-5 |
SMART |
|
Pumilio
|
958 |
993 |
3.37e-8 |
SMART |
|
Pumilio
|
994 |
1029 |
6.29e-8 |
SMART |
|
Pumilio
|
1030 |
1065 |
1.04e-8 |
SMART |
|
Pumilio
|
1066 |
1101 |
6.2e-7 |
SMART |
|
Pumilio
|
1109 |
1144 |
8.77e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097864
AA Change: N568K
PolyPhen 2
Score 0.576 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000095476
Gene: ENSMUSG00000028580
AA Change: N568K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
414 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
457 |
N/A |
INTRINSIC |
|
low complexity region
|
475 |
502 |
N/A |
INTRINSIC |
|
low complexity region
|
527 |
538 |
N/A |
INTRINSIC |
|
low complexity region
|
583 |
614 |
N/A |
INTRINSIC |
|
low complexity region
|
626 |
636 |
N/A |
INTRINSIC |
|
low complexity region
|
642 |
665 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
695 |
N/A |
INTRINSIC |
|
low complexity region
|
730 |
740 |
N/A |
INTRINSIC |
|
low complexity region
|
762 |
782 |
N/A |
INTRINSIC |
|
low complexity region
|
797 |
815 |
N/A |
INTRINSIC |
|
Pumilio
|
848 |
883 |
1.75e-6 |
SMART |
|
Pumilio
|
884 |
919 |
4.03e-6 |
SMART |
|
Pumilio
|
920 |
955 |
5.48e-8 |
SMART |
|
Pumilio
|
956 |
991 |
3.37e-8 |
SMART |
|
Pumilio
|
992 |
1027 |
6.29e-8 |
SMART |
|
Pumilio
|
1028 |
1063 |
1.04e-8 |
SMART |
|
Pumilio
|
1064 |
1099 |
6.2e-7 |
SMART |
|
Pumilio
|
1107 |
1142 |
8.77e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105991
AA Change: N326K
PolyPhen 2
Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000101612
Gene: ENSMUSG00000028580
AA Change: N326K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
285 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
372 |
N/A |
INTRINSIC |
|
low complexity region
|
384 |
394 |
N/A |
INTRINSIC |
|
low complexity region
|
400 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
453 |
N/A |
INTRINSIC |
|
low complexity region
|
488 |
498 |
N/A |
INTRINSIC |
|
low complexity region
|
520 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
555 |
573 |
N/A |
INTRINSIC |
|
Pumilio
|
606 |
641 |
1.75e-6 |
SMART |
|
Pumilio
|
642 |
677 |
4.03e-6 |
SMART |
|
Pumilio
|
678 |
713 |
5.48e-8 |
SMART |
|
Pumilio
|
714 |
749 |
3.37e-8 |
SMART |
|
Pumilio
|
750 |
785 |
6.29e-8 |
SMART |
|
Pumilio
|
786 |
821 |
1.04e-8 |
SMART |
|
Pumilio
|
822 |
857 |
6.2e-7 |
SMART |
|
Pumilio
|
865 |
900 |
8.77e-7 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105992
AA Change: N472K
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101613
Gene: ENSMUSG00000028580
AA Change: N472K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
297 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
346 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
379 |
406 |
N/A |
INTRINSIC |
|
low complexity region
|
431 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
487 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
530 |
540 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
569 |
N/A |
INTRINSIC |
|
low complexity region
|
575 |
599 |
N/A |
INTRINSIC |
|
low complexity region
|
634 |
644 |
N/A |
INTRINSIC |
|
low complexity region
|
666 |
686 |
N/A |
INTRINSIC |
|
low complexity region
|
701 |
719 |
N/A |
INTRINSIC |
|
Pumilio
|
752 |
787 |
1.75e-6 |
SMART |
|
Pumilio
|
788 |
823 |
4.03e-6 |
SMART |
|
Pumilio
|
824 |
858 |
5.24e-5 |
SMART |
|
Pumilio
|
862 |
897 |
3.37e-8 |
SMART |
|
Pumilio
|
898 |
933 |
6.29e-8 |
SMART |
|
Pumilio
|
934 |
969 |
1.04e-8 |
SMART |
|
Pumilio
|
970 |
1005 |
6.2e-7 |
SMART |
|
Pumilio
|
1013 |
1048 |
8.77e-7 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143277
|
| SMART Domains |
Protein: ENSMUSP00000114629
Gene: ENSMUSG00000028580
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
102 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
172 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
215 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1066 |
| Coding Region Coverage |
- 1x: 98.4%
- 3x: 97.4%
- 10x: 95.4%
- 20x: 91.6%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the PUF family, evolutionarily conserved RNA-binding proteins related to the Pumilio proteins of Drosophila and the fem-3 mRNA binding factor proteins of C. elegans. The encoded protein contains a sequence-specific RNA binding domain comprised of eight repeats and N- and C-terminal flanking regions, and serves as a translational regulator of specific mRNAs by binding to their 3' untranslated regions. The evolutionarily conserved function of the encoded protein in invertebrates and lower vertebrates suggests that the human protein may be involved in translational regulation of embryogenesis, and cell development and differentiation. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased testes weight and size, decreased body weight, oligozoospermia, reduced male fertility, increased male germ cell apoptosis and small seminiferous tubules. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
T |
C |
19: 43,827,904 (GRCm39) |
|
probably benign |
Het |
| Adamts2 |
T |
C |
11: 50,683,478 (GRCm39) |
V920A |
possibly damaging |
Het |
| Alpk1 |
A |
G |
3: 127,471,368 (GRCm39) |
V1038A |
probably damaging |
Het |
| Amotl1 |
A |
G |
9: 14,504,048 (GRCm39) |
|
probably null |
Het |
| Apba2 |
T |
A |
7: 64,344,934 (GRCm39) |
Y41* |
probably null |
Het |
| BC048562 |
G |
A |
9: 108,322,363 (GRCm39) |
|
probably benign |
Het |
| Braf |
A |
G |
6: 39,654,508 (GRCm39) |
L86P |
possibly damaging |
Het |
| Capn3 |
A |
G |
2: 120,294,666 (GRCm39) |
|
probably null |
Het |
| Carmil1 |
T |
C |
13: 24,296,028 (GRCm39) |
D371G |
probably damaging |
Het |
| Cdhr4 |
G |
A |
9: 107,872,790 (GRCm39) |
V280I |
possibly damaging |
Het |
| Cdkl2 |
T |
A |
5: 92,187,108 (GRCm39) |
K53* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,660,182 (GRCm39) |
E353D |
probably damaging |
Het |
| Col4a2 |
T |
A |
8: 11,448,697 (GRCm39) |
N72K |
probably benign |
Het |
| Comtd1 |
A |
T |
14: 21,898,981 (GRCm39) |
|
probably benign |
Het |
| Ctsm |
A |
T |
13: 61,685,543 (GRCm39) |
S290T |
probably benign |
Het |
| Defa35 |
A |
T |
8: 21,555,836 (GRCm39) |
Y65F |
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,057,186 (GRCm39) |
C198S |
probably benign |
Het |
| Epha3 |
A |
C |
16: 63,403,896 (GRCm39) |
M734R |
probably damaging |
Het |
| Fastkd2 |
T |
C |
1: 63,778,345 (GRCm39) |
I406T |
probably benign |
Het |
| Fshr |
C |
T |
17: 89,309,143 (GRCm39) |
V222I |
probably benign |
Het |
| Gm16686 |
A |
T |
4: 88,673,714 (GRCm39) |
|
probably benign |
Het |
| Gm4922 |
T |
C |
10: 18,659,885 (GRCm39) |
E279G |
probably benign |
Het |
| Gm5709 |
A |
T |
3: 59,543,095 (GRCm39) |
|
noncoding transcript |
Het |
| Grin3a |
C |
A |
4: 49,792,481 (GRCm39) |
M417I |
probably benign |
Het |
| Hnf4a |
A |
T |
2: 163,410,926 (GRCm39) |
M408L |
probably benign |
Het |
| Idh1 |
A |
T |
1: 65,200,997 (GRCm39) |
M318K |
probably benign |
Het |
| Krt222 |
A |
G |
11: 99,125,774 (GRCm39) |
S286P |
probably damaging |
Het |
| Mmrn2 |
A |
T |
14: 34,118,539 (GRCm39) |
T142S |
probably benign |
Het |
| Myocd |
G |
T |
11: 65,123,914 (GRCm39) |
|
probably null |
Het |
| Ncam2 |
C |
T |
16: 81,231,766 (GRCm39) |
R77* |
probably null |
Het |
| Or52ab7 |
T |
C |
7: 102,978,032 (GRCm39) |
L113P |
probably damaging |
Het |
| Or5h17 |
A |
T |
16: 58,820,425 (GRCm39) |
I126L |
possibly damaging |
Het |
| Pcdhgc4 |
C |
T |
18: 37,950,375 (GRCm39) |
T597M |
probably damaging |
Het |
| Pdrg1 |
A |
G |
2: 152,857,152 (GRCm39) |
|
probably benign |
Het |
| Per2 |
T |
A |
1: 91,360,590 (GRCm39) |
I521F |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,271,380 (GRCm39) |
L3058F |
probably damaging |
Het |
| Plaat5 |
A |
C |
19: 7,592,036 (GRCm39) |
|
probably benign |
Het |
| Pnliprp1 |
A |
T |
19: 58,723,423 (GRCm39) |
|
probably null |
Het |
| Ppargc1b |
T |
A |
18: 61,440,639 (GRCm39) |
M744L |
probably benign |
Het |
| Prpf18 |
A |
T |
2: 4,643,705 (GRCm39) |
N155K |
probably benign |
Het |
| Reln |
A |
T |
5: 22,209,201 (GRCm39) |
S1126T |
probably benign |
Het |
| Rnase11 |
A |
G |
14: 51,287,332 (GRCm39) |
L74P |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,359,780 (GRCm39) |
I324F |
probably damaging |
Het |
| Slc26a10 |
C |
A |
10: 127,009,818 (GRCm39) |
R576L |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,241,140 (GRCm39) |
E921D |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,374,609 (GRCm39) |
M296L |
probably damaging |
Het |
| Sos1 |
T |
C |
17: 80,741,276 (GRCm39) |
D503G |
probably damaging |
Het |
| Srpk2 |
G |
A |
5: 23,729,181 (GRCm39) |
T486I |
possibly damaging |
Het |
| Sult6b1 |
A |
T |
17: 79,202,101 (GRCm39) |
|
probably null |
Het |
| Tbc1d16 |
T |
C |
11: 119,045,917 (GRCm39) |
E509G |
probably benign |
Het |
| Tktl2 |
T |
C |
8: 66,966,050 (GRCm39) |
V536A |
probably damaging |
Het |
| Ugt2b36 |
A |
T |
5: 87,237,341 (GRCm39) |
V188D |
probably damaging |
Het |
| Veph1 |
T |
C |
3: 66,162,443 (GRCm39) |
T72A |
probably damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,518,996 (GRCm39) |
I542N |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,894,120 (GRCm39) |
P480S |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,052,193 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Pum1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00985:Pum1
|
APN |
4 |
130,471,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01327:Pum1
|
APN |
4 |
130,457,854 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01360:Pum1
|
APN |
4 |
130,455,481 (GRCm39) |
intron |
probably benign |
|
|
IGL02055:Pum1
|
APN |
4 |
130,481,365 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02713:Pum1
|
APN |
4 |
130,493,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03401:Pum1
|
APN |
4 |
130,470,992 (GRCm39) |
splice site |
probably benign |
|
|
LCD18:Pum1
|
UTSW |
4 |
130,730,549 (GRCm38) |
intron |
probably benign |
|
|
R0077:Pum1
|
UTSW |
4 |
130,499,985 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0346:Pum1
|
UTSW |
4 |
130,507,116 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0632:Pum1
|
UTSW |
4 |
130,455,415 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0870:Pum1
|
UTSW |
4 |
130,496,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1006:Pum1
|
UTSW |
4 |
130,499,199 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1300:Pum1
|
UTSW |
4 |
130,493,272 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1499:Pum1
|
UTSW |
4 |
130,446,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1572:Pum1
|
UTSW |
4 |
130,445,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1835:Pum1
|
UTSW |
4 |
130,428,359 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1864:Pum1
|
UTSW |
4 |
130,478,836 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1991:Pum1
|
UTSW |
4 |
130,445,529 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2068:Pum1
|
UTSW |
4 |
130,501,745 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2119:Pum1
|
UTSW |
4 |
130,396,581 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2120:Pum1
|
UTSW |
4 |
130,396,581 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2122:Pum1
|
UTSW |
4 |
130,396,581 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2153:Pum1
|
UTSW |
4 |
130,478,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2164:Pum1
|
UTSW |
4 |
130,455,395 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2164:Pum1
|
UTSW |
4 |
130,455,394 (GRCm39) |
nonsense |
probably null |
|
|
R2280:Pum1
|
UTSW |
4 |
130,493,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3116:Pum1
|
UTSW |
4 |
130,499,971 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3890:Pum1
|
UTSW |
4 |
130,491,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3891:Pum1
|
UTSW |
4 |
130,491,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3892:Pum1
|
UTSW |
4 |
130,491,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4134:Pum1
|
UTSW |
4 |
130,491,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4258:Pum1
|
UTSW |
4 |
130,457,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4731:Pum1
|
UTSW |
4 |
130,445,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4732:Pum1
|
UTSW |
4 |
130,445,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4733:Pum1
|
UTSW |
4 |
130,445,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4973:Pum1
|
UTSW |
4 |
130,396,448 (GRCm39) |
missense |
probably benign |
0.27 |
|
R5198:Pum1
|
UTSW |
4 |
130,507,190 (GRCm39) |
nonsense |
probably null |
|
|
R5249:Pum1
|
UTSW |
4 |
130,490,125 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5652:Pum1
|
UTSW |
4 |
130,491,438 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5932:Pum1
|
UTSW |
4 |
130,457,677 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6008:Pum1
|
UTSW |
4 |
130,496,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6112:Pum1
|
UTSW |
4 |
130,457,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6416:Pum1
|
UTSW |
4 |
130,455,598 (GRCm39) |
splice site |
probably null |
|
|
R6426:Pum1
|
UTSW |
4 |
130,481,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6431:Pum1
|
UTSW |
4 |
130,501,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7226:Pum1
|
UTSW |
4 |
130,499,292 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7273:Pum1
|
UTSW |
4 |
130,478,791 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7423:Pum1
|
UTSW |
4 |
130,501,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7491:Pum1
|
UTSW |
4 |
130,446,485 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7526:Pum1
|
UTSW |
4 |
130,474,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7731:Pum1
|
UTSW |
4 |
130,490,274 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7911:Pum1
|
UTSW |
4 |
130,501,788 (GRCm39) |
missense |
probably benign |
0.40 |
|
R8065:Pum1
|
UTSW |
4 |
130,478,836 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8067:Pum1
|
UTSW |
4 |
130,478,836 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8305:Pum1
|
UTSW |
4 |
130,499,231 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8476:Pum1
|
UTSW |
4 |
130,480,024 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8835:Pum1
|
UTSW |
4 |
130,471,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8875:Pum1
|
UTSW |
4 |
130,507,186 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9003:Pum1
|
UTSW |
4 |
130,474,393 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9072:Pum1
|
UTSW |
4 |
130,480,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9073:Pum1
|
UTSW |
4 |
130,480,172 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9332:Pum1
|
UTSW |
4 |
130,499,209 (GRCm39) |
nonsense |
probably null |
|
|
R9496:Pum1
|
UTSW |
4 |
130,446,664 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9801:Pum1
|
UTSW |
4 |
130,481,328 (GRCm39) |
missense |
probably benign |
0.28 |
|
X0024:Pum1
|
UTSW |
4 |
130,507,101 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Pum1
|
UTSW |
4 |
130,478,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTGGAGTACTGTGAAACTTCATC -3'
(R):5'- AAGGACCATCAGAGCCTCTC -3'
Sequencing Primer
(F):5'- GAATGGCCACGTGATTTAACACTC -3'
(R):5'- CTGAAGGCTATTCCTGACAGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation