Incidental Mutation 'R5164:Pnisr'
| ID |
395584 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pnisr
|
| Ensembl Gene |
ENSMUSG00000028248 |
| Gene Name |
PNN interacting serine/arginine-rich |
| Synonyms |
Sfrs18, 5730406M06Rik |
| MMRRC Submission |
042745-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.955)
|
| Stock # |
R5164 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
21847583-21876475 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21859237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 144
(Q144L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029911]
[ENSMUST00000098238]
[ENSMUST00000108229]
[ENSMUST00000185001]
|
| AlphaFold |
A2AJT4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029911
AA Change: Q144L
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029911
Gene: ENSMUSG00000028248
AA Change: Q144L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
57 |
86 |
6.59e-5 |
PROSPERO |
|
low complexity region
|
94 |
117 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
121 |
149 |
6.59e-5 |
PROSPERO |
|
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
|
Pfam:PNISR
|
223 |
391 |
1.1e-55 |
PFAM |
|
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
814 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098238
AA Change: Q144L
PolyPhen 2
Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095840
Gene: ENSMUSG00000028248
AA Change: Q144L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
57 |
86 |
7.37e-5 |
PROSPERO |
|
low complexity region
|
94 |
117 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
121 |
149 |
7.37e-5 |
PROSPERO |
|
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
240 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
415 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
494 |
586 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
640 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
703 |
N/A |
INTRINSIC |
|
low complexity region
|
746 |
783 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
805 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000108229
AA Change: Q144L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000103864
Gene: ENSMUSG00000028248
AA Change: Q144L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
240 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138419
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138681
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150368
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150927
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152666
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156136
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185001
AA Change: Q144L
PolyPhen 2
Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139324
Gene: ENSMUSG00000028248
AA Change: Q144L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
94 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
240 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
289 |
298 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
|
low complexity region
|
334 |
347 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151621
|
| Meta Mutation Damage Score |
0.0761 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
98% (49/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,583,793 (GRCm39) |
H4637Q |
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,189,249 (GRCm39) |
H2221R |
probably benign |
Het |
| Arsj |
A |
T |
3: 126,231,808 (GRCm39) |
M185L |
probably benign |
Het |
| Ccdc177 |
T |
C |
12: 80,805,336 (GRCm39) |
T313A |
unknown |
Het |
| Cdkal1 |
A |
T |
13: 29,809,702 (GRCm39) |
L214H |
probably damaging |
Het |
| Cfap44 |
T |
A |
16: 44,301,752 (GRCm39) |
I1830N |
probably damaging |
Het |
| Cfap65 |
T |
C |
1: 74,965,675 (GRCm39) |
K445R |
probably damaging |
Het |
| Chrnb3 |
T |
A |
8: 27,884,160 (GRCm39) |
I299N |
probably damaging |
Het |
| Cse1l |
C |
A |
2: 166,786,348 (GRCm39) |
D826E |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,475,511 (GRCm39) |
V816A |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,408,438 (GRCm39) |
E3474D |
probably benign |
Het |
| Dock5 |
A |
T |
14: 68,055,110 (GRCm39) |
Y585* |
probably null |
Het |
| Ebf2 |
T |
C |
14: 67,627,970 (GRCm39) |
S322P |
possibly damaging |
Het |
| Epha8 |
T |
C |
4: 136,672,983 (GRCm39) |
E267G |
possibly damaging |
Het |
| Fkbp5 |
A |
G |
17: 28,656,964 (GRCm39) |
|
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,284,743 (GRCm39) |
K49* |
probably null |
Het |
| Gramd4 |
A |
T |
15: 85,985,032 (GRCm39) |
T98S |
probably benign |
Het |
| Hectd1 |
C |
A |
12: 51,874,272 (GRCm39) |
M1I |
probably null |
Het |
| Hsd17b8 |
A |
G |
17: 34,245,952 (GRCm39) |
|
probably benign |
Het |
| Hycc2 |
T |
C |
1: 58,574,597 (GRCm39) |
T315A |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Keg1 |
A |
G |
19: 12,692,044 (GRCm39) |
|
probably benign |
Het |
| Lilra6 |
A |
T |
7: 3,917,880 (GRCm39) |
V88E |
probably damaging |
Het |
| Mast1 |
A |
G |
8: 85,640,147 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,759,011 (GRCm39) |
|
probably null |
Het |
| Nrdc |
C |
T |
4: 108,896,914 (GRCm39) |
T511I |
probably damaging |
Het |
| Odad4 |
G |
A |
11: 100,462,346 (GRCm39) |
W506* |
probably null |
Het |
| Or4c106 |
T |
A |
2: 88,682,914 (GRCm39) |
L207I |
probably benign |
Het |
| Or5p6 |
G |
A |
7: 107,631,487 (GRCm39) |
T21I |
possibly damaging |
Het |
| Or8k24 |
T |
C |
2: 86,215,815 (GRCm39) |
T316A |
probably benign |
Het |
| Pms1 |
A |
G |
1: 53,246,799 (GRCm39) |
V301A |
probably damaging |
Het |
| Pp2d1 |
G |
T |
17: 53,815,098 (GRCm39) |
T542K |
probably benign |
Het |
| Ppargc1b |
A |
T |
18: 61,435,715 (GRCm39) |
C922S |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,018,995 (GRCm39) |
|
probably null |
Het |
| Runx3 |
T |
C |
4: 134,848,441 (GRCm39) |
S9P |
possibly damaging |
Het |
| Serpina1b |
A |
G |
12: 103,698,346 (GRCm39) |
S168P |
probably benign |
Het |
| Slc14a2 |
G |
A |
18: 78,200,487 (GRCm39) |
A722V |
probably damaging |
Het |
| Slc23a2 |
T |
A |
2: 131,917,370 (GRCm39) |
|
probably benign |
Het |
| Slc47a1 |
A |
G |
11: 61,243,886 (GRCm39) |
|
probably null |
Het |
| Tcf20 |
A |
G |
15: 82,740,804 (GRCm39) |
S216P |
probably damaging |
Het |
| Tpst1 |
T |
A |
5: 130,130,842 (GRCm39) |
I104N |
probably damaging |
Het |
| Ufm1 |
A |
C |
3: 53,765,348 (GRCm39) |
|
probably benign |
Het |
| Unkl |
A |
G |
17: 25,432,083 (GRCm39) |
|
probably null |
Het |
| Usf3 |
T |
C |
16: 44,038,543 (GRCm39) |
S1008P |
probably damaging |
Het |
| Ythdf3 |
T |
C |
3: 16,237,677 (GRCm39) |
V6A |
possibly damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,648,875 (GRCm39) |
S752R |
probably benign |
Het |
| Zfp268 |
T |
C |
4: 145,348,775 (GRCm39) |
Y71H |
probably damaging |
Het |
|
| Other mutations in Pnisr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Pnisr
|
APN |
4 |
21,870,407 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01467:Pnisr
|
APN |
4 |
21,874,650 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01997:Pnisr
|
APN |
4 |
21,871,537 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02641:Pnisr
|
APN |
4 |
21,860,908 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL02756:Pnisr
|
APN |
4 |
21,862,175 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0106:Pnisr
|
UTSW |
4 |
21,874,617 (GRCm39) |
unclassified |
probably benign |
|
|
R0106:Pnisr
|
UTSW |
4 |
21,874,617 (GRCm39) |
unclassified |
probably benign |
|
|
R0620:Pnisr
|
UTSW |
4 |
21,874,092 (GRCm39) |
unclassified |
probably benign |
|
|
R0636:Pnisr
|
UTSW |
4 |
21,873,800 (GRCm39) |
unclassified |
probably benign |
|
|
R1179:Pnisr
|
UTSW |
4 |
21,865,937 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1388:Pnisr
|
UTSW |
4 |
21,862,041 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1450:Pnisr
|
UTSW |
4 |
21,874,912 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1609:Pnisr
|
UTSW |
4 |
21,871,440 (GRCm39) |
nonsense |
probably null |
|
|
R1663:Pnisr
|
UTSW |
4 |
21,873,857 (GRCm39) |
unclassified |
probably benign |
|
|
R1670:Pnisr
|
UTSW |
4 |
21,865,893 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1721:Pnisr
|
UTSW |
4 |
21,874,086 (GRCm39) |
unclassified |
probably benign |
|
|
R1792:Pnisr
|
UTSW |
4 |
21,860,968 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1867:Pnisr
|
UTSW |
4 |
21,874,086 (GRCm39) |
unclassified |
probably benign |
|
|
R1868:Pnisr
|
UTSW |
4 |
21,874,086 (GRCm39) |
unclassified |
probably benign |
|
|
R1909:Pnisr
|
UTSW |
4 |
21,869,517 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1931:Pnisr
|
UTSW |
4 |
21,873,612 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4843:Pnisr
|
UTSW |
4 |
21,857,400 (GRCm39) |
intron |
probably benign |
|
|
R4917:Pnisr
|
UTSW |
4 |
21,859,330 (GRCm39) |
intron |
probably benign |
|
|
R5076:Pnisr
|
UTSW |
4 |
21,874,990 (GRCm39) |
unclassified |
probably benign |
|
|
R5227:Pnisr
|
UTSW |
4 |
21,874,587 (GRCm39) |
unclassified |
probably benign |
|
|
R6722:Pnisr
|
UTSW |
4 |
21,859,165 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7878:Pnisr
|
UTSW |
4 |
21,874,370 (GRCm39) |
missense |
unknown |
|
|
R8512:Pnisr
|
UTSW |
4 |
21,870,372 (GRCm39) |
nonsense |
probably null |
|
|
R9049:Pnisr
|
UTSW |
4 |
21,854,391 (GRCm39) |
missense |
unknown |
|
|
R9680:Pnisr
|
UTSW |
4 |
21,873,586 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1088:Pnisr
|
UTSW |
4 |
21,873,684 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Pnisr
|
UTSW |
4 |
21,873,684 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Pnisr
|
UTSW |
4 |
21,873,684 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGAATCCTGAATAGAATGGGG -3'
(R):5'- TGTCGGTACCAATTTCCTAATCAAG -3'
Sequencing Primer
(F):5'- TCCTGAATAGAATGGGGAATGCATC -3'
(R):5'- CTGATATGTGCAACCCTGACAATG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation