Incidental Mutation 'R5298:Zfp507'
| ID |
405532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp507
|
| Ensembl Gene |
ENSMUSG00000044452 |
| Gene Name |
zinc finger protein 507 |
| Synonyms |
A230056M16Rik, 1810022O10Rik |
| MMRRC Submission |
042881-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.228)
|
| Stock # |
R5298 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
35471768-35502428 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 35475421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 931
(N931D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058609
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061586]
[ENSMUST00000187282]
[ENSMUST00000206615]
|
| AlphaFold |
Q6ZPY5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061586
AA Change: N931D
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000058609
Gene: ENSMUSG00000044452
AA Change: N931D
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
122 |
144 |
1.56e-2 |
SMART |
|
ZnF_C2H2
|
152 |
175 |
2.49e-1 |
SMART |
|
low complexity region
|
178 |
192 |
N/A |
INTRINSIC |
|
ZnF_C2H2
|
237 |
259 |
8.52e0 |
SMART |
|
ZnF_C2H2
|
630 |
652 |
2.75e-3 |
SMART |
|
ZnF_C2H2
|
658 |
680 |
1.26e-2 |
SMART |
|
ZnF_C2H2
|
686 |
709 |
5.42e-2 |
SMART |
|
ZnF_C2H2
|
746 |
768 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
774 |
796 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
899 |
921 |
3.83e-2 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181078
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187282
AA Change: N139D
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000140940
Gene: ENSMUSG00000044452
AA Change: N139D
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_C2H2
|
107 |
129 |
1.6e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206615
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206761
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
A |
G |
9: 103,976,086 (GRCm39) |
V287A |
possibly damaging |
Het |
| Adat2 |
A |
G |
10: 13,432,650 (GRCm39) |
N51D |
probably benign |
Het |
| Alms1-ps1 |
T |
C |
6: 85,729,100 (GRCm39) |
|
noncoding transcript |
Het |
| Ccdc97 |
A |
G |
7: 25,415,432 (GRCm39) |
V12A |
probably damaging |
Het |
| Cdcp2 |
T |
C |
4: 106,964,182 (GRCm39) |
V344A |
probably benign |
Het |
| Clasp1 |
A |
G |
1: 118,475,650 (GRCm39) |
D929G |
possibly damaging |
Het |
| Clip4 |
A |
G |
17: 72,141,220 (GRCm39) |
N525D |
probably damaging |
Het |
| Csde1 |
T |
A |
3: 102,954,525 (GRCm39) |
|
probably null |
Het |
| D330020A13Rik |
T |
C |
6: 120,271,777 (GRCm39) |
|
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Ehmt2 |
C |
T |
17: 35,118,067 (GRCm39) |
R40* |
probably null |
Het |
| Fuca1 |
C |
A |
4: 135,664,237 (GRCm39) |
Y374* |
probably null |
Het |
| Gle1 |
C |
G |
2: 29,838,955 (GRCm39) |
P457A |
probably benign |
Het |
| Hadhb |
T |
C |
5: 30,382,009 (GRCm39) |
|
probably null |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Lef1 |
A |
T |
3: 130,988,316 (GRCm39) |
R294S |
possibly damaging |
Het |
| Lrriq4 |
G |
T |
3: 30,699,481 (GRCm39) |
M1I |
probably null |
Het |
| Magi2 |
T |
C |
5: 20,774,160 (GRCm39) |
S884P |
probably damaging |
Het |
| Mon2 |
A |
G |
10: 122,846,511 (GRCm39) |
I1353T |
probably benign |
Het |
| Or4c127 |
T |
A |
2: 89,832,804 (GRCm39) |
L18Q |
possibly damaging |
Het |
| Or5p81 |
A |
G |
7: 108,267,279 (GRCm39) |
I219V |
probably benign |
Het |
| Parg |
C |
A |
14: 31,924,210 (GRCm39) |
A3E |
probably damaging |
Het |
| Per3 |
A |
T |
4: 151,113,666 (GRCm39) |
D297E |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,367,442 (GRCm39) |
Y780F |
probably benign |
Het |
| Plcg2 |
A |
G |
8: 118,331,988 (GRCm39) |
Y858C |
probably benign |
Het |
| Prkca |
A |
T |
11: 107,903,510 (GRCm39) |
N287K |
probably damaging |
Het |
| Qsox2 |
A |
C |
2: 26,104,074 (GRCm39) |
S484A |
probably damaging |
Het |
| Reep4 |
G |
A |
14: 70,785,637 (GRCm39) |
G225D |
possibly damaging |
Het |
| Scn4a |
T |
C |
11: 106,230,212 (GRCm39) |
E532G |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Slc23a1 |
A |
G |
18: 35,755,563 (GRCm39) |
|
probably null |
Het |
| Sowaha |
C |
T |
11: 53,370,355 (GRCm39) |
R127Q |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,990,961 (GRCm39) |
W626R |
probably damaging |
Het |
| Tasor2 |
T |
C |
13: 3,645,613 (GRCm39) |
|
probably null |
Het |
| Trim45 |
A |
G |
3: 100,832,787 (GRCm39) |
D340G |
probably damaging |
Het |
| Vmn1r193 |
A |
T |
13: 22,403,725 (GRCm39) |
F89Y |
probably damaging |
Het |
|
| Other mutations in Zfp507 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00715:Zfp507
|
APN |
7 |
35,494,137 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL00835:Zfp507
|
APN |
7 |
35,475,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01083:Zfp507
|
APN |
7 |
35,493,463 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01359:Zfp507
|
APN |
7 |
35,493,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01418:Zfp507
|
APN |
7 |
35,493,237 (GRCm39) |
splice site |
probably null |
|
|
IGL02122:Zfp507
|
APN |
7 |
35,475,520 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02506:Zfp507
|
APN |
7 |
35,475,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02601:Zfp507
|
APN |
7 |
35,491,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02643:Zfp507
|
APN |
7 |
35,494,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03129:Zfp507
|
APN |
7 |
35,493,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0400:Zfp507
|
UTSW |
7 |
35,491,171 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0812:Zfp507
|
UTSW |
7 |
35,502,048 (GRCm39) |
intron |
probably benign |
|
|
R1183:Zfp507
|
UTSW |
7 |
35,494,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1381:Zfp507
|
UTSW |
7 |
35,475,435 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1542:Zfp507
|
UTSW |
7 |
35,494,226 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1626:Zfp507
|
UTSW |
7 |
35,494,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1759:Zfp507
|
UTSW |
7 |
35,475,403 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1843:Zfp507
|
UTSW |
7 |
35,493,150 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1852:Zfp507
|
UTSW |
7 |
35,487,176 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Zfp507
|
UTSW |
7 |
35,502,052 (GRCm39) |
intron |
probably benign |
|
|
R1923:Zfp507
|
UTSW |
7 |
35,493,150 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1925:Zfp507
|
UTSW |
7 |
35,493,150 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1927:Zfp507
|
UTSW |
7 |
35,493,150 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2139:Zfp507
|
UTSW |
7 |
35,493,148 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2191:Zfp507
|
UTSW |
7 |
35,494,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2431:Zfp507
|
UTSW |
7 |
35,494,827 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2921:Zfp507
|
UTSW |
7 |
35,494,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2922:Zfp507
|
UTSW |
7 |
35,494,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3436:Zfp507
|
UTSW |
7 |
35,487,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4483:Zfp507
|
UTSW |
7 |
35,487,141 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4751:Zfp507
|
UTSW |
7 |
35,493,807 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4852:Zfp507
|
UTSW |
7 |
35,493,480 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5602:Zfp507
|
UTSW |
7 |
35,475,663 (GRCm39) |
nonsense |
probably null |
|
|
R5707:Zfp507
|
UTSW |
7 |
35,493,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5785:Zfp507
|
UTSW |
7 |
35,487,167 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6140:Zfp507
|
UTSW |
7 |
35,493,613 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6674:Zfp507
|
UTSW |
7 |
35,494,159 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6714:Zfp507
|
UTSW |
7 |
35,487,152 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7045:Zfp507
|
UTSW |
7 |
35,494,978 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7334:Zfp507
|
UTSW |
7 |
35,475,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Zfp507
|
UTSW |
7 |
35,475,843 (GRCm39) |
missense |
unknown |
|
|
R7569:Zfp507
|
UTSW |
7 |
35,493,969 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7662:Zfp507
|
UTSW |
7 |
35,487,229 (GRCm39) |
nonsense |
probably null |
|
|
R7846:Zfp507
|
UTSW |
7 |
35,493,963 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9100:Zfp507
|
UTSW |
7 |
35,494,446 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9136:Zfp507
|
UTSW |
7 |
35,475,883 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9513:Zfp507
|
UTSW |
7 |
35,475,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1088:Zfp507
|
UTSW |
7 |
35,493,702 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACATTAAGAAGGGGCGCC -3'
(R):5'- TGAAGTTATGGACGCCAGC -3'
Sequencing Primer
(F):5'- CCAGAGGCTCACAAAGGGTC -3'
(R):5'- GCGAGCTTGAGAAACTGAACCC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation