Incidental Mutation 'R2431:Zfp507'
ID |
250403 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp507
|
Ensembl Gene |
ENSMUSG00000044452 |
Gene Name |
zinc finger protein 507 |
Synonyms |
A230056M16Rik, 1810022O10Rik |
MMRRC Submission |
040392-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.228)
|
Stock # |
R2431 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
35471768-35502428 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 35494827 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 72
(R72H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061586]
[ENSMUST00000187282]
[ENSMUST00000205670]
[ENSMUST00000206615]
|
AlphaFold |
Q6ZPY5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061586
AA Change: R72H
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000058609 Gene: ENSMUSG00000044452 AA Change: R72H
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 |
probably benign
Transcript: ENSMUST00000187282
|
SMART Domains |
Protein: ENSMUSP00000140940 Gene: ENSMUSG00000044452
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
107 |
129 |
1.6e-4 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205670
AA Change: R72H
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206615
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 93.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap23 |
T |
C |
11: 97,343,230 (GRCm39) |
V504A |
probably benign |
Het |
Atr |
T |
G |
9: 95,744,945 (GRCm39) |
N87K |
probably benign |
Het |
Auts2 |
A |
T |
5: 132,287,887 (GRCm39) |
L32* |
probably null |
Het |
Bptf |
A |
G |
11: 106,938,066 (GRCm39) |
V2675A |
possibly damaging |
Het |
Brdt |
C |
T |
5: 107,525,881 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
T |
C |
10: 41,445,841 (GRCm39) |
K444E |
probably benign |
Het |
Cnot1 |
T |
C |
8: 96,501,280 (GRCm39) |
D96G |
probably damaging |
Het |
Cpq |
C |
A |
15: 33,594,265 (GRCm39) |
Y425* |
probably null |
Het |
Eri1 |
A |
G |
8: 35,943,632 (GRCm39) |
Y221H |
probably damaging |
Het |
Fbln2 |
A |
G |
6: 91,246,955 (GRCm39) |
E1065G |
probably damaging |
Het |
Focad |
T |
C |
4: 88,249,264 (GRCm39) |
V837A |
unknown |
Het |
Ica1 |
G |
A |
6: 8,658,265 (GRCm39) |
T284I |
probably benign |
Het |
Isg15 |
C |
T |
4: 156,285,158 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
T |
C |
7: 27,019,101 (GRCm39) |
T1073A |
possibly damaging |
Het |
Mmp16 |
A |
T |
4: 18,054,491 (GRCm39) |
R332S |
probably benign |
Het |
Myg1 |
G |
C |
15: 102,246,171 (GRCm39) |
G349R |
probably damaging |
Het |
Or2a25 |
T |
C |
6: 42,888,946 (GRCm39) |
L163S |
probably damaging |
Het |
Or2ag19 |
T |
C |
7: 106,444,598 (GRCm39) |
V260A |
possibly damaging |
Het |
Or5b21 |
T |
C |
19: 12,839,970 (GRCm39) |
V277A |
probably damaging |
Het |
Or7g12 |
A |
G |
9: 18,899,299 (GRCm39) |
N5S |
probably damaging |
Het |
Piezo2 |
T |
C |
18: 63,378,695 (GRCm39) |
H78R |
possibly damaging |
Het |
Pkd1l1 |
T |
C |
11: 8,897,197 (GRCm39) |
N121D |
probably damaging |
Het |
Pkhd1 |
T |
C |
1: 20,271,389 (GRCm39) |
T3055A |
possibly damaging |
Het |
Ppp5c |
C |
T |
7: 16,749,350 (GRCm39) |
V160M |
probably damaging |
Het |
Ptpn23 |
G |
A |
9: 110,215,347 (GRCm39) |
R1438* |
probably null |
Het |
Ptpro |
G |
A |
6: 137,420,583 (GRCm39) |
W183* |
probably null |
Het |
Pygm |
T |
C |
19: 6,443,815 (GRCm39) |
M592T |
probably damaging |
Het |
Qdpr |
A |
G |
5: 45,602,072 (GRCm39) |
V68A |
probably damaging |
Het |
Rfc5 |
A |
C |
5: 117,523,523 (GRCm39) |
S92A |
probably damaging |
Het |
Ripor3 |
T |
C |
2: 167,831,715 (GRCm39) |
Q362R |
probably benign |
Het |
Ror1 |
G |
A |
4: 100,298,352 (GRCm39) |
C575Y |
probably damaging |
Het |
Skint9 |
T |
A |
4: 112,246,464 (GRCm39) |
D216V |
probably damaging |
Het |
Sox6 |
T |
C |
7: 115,149,242 (GRCm39) |
|
probably null |
Het |
Ugp2 |
A |
T |
11: 21,279,025 (GRCm39) |
V387D |
probably damaging |
Het |
Umodl1 |
T |
C |
17: 31,211,062 (GRCm39) |
S747P |
possibly damaging |
Het |
Vtcn1 |
A |
T |
3: 100,732,893 (GRCm39) |
I7F |
possibly 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 |
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 |
R5298:Zfp507
|
UTSW |
7 |
35,475,421 (GRCm39) |
missense |
probably damaging |
0.99 |
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'- CTCTTTCAGCACAGAAAAGGATGG -3'
(R):5'- CATTGCCATGTTGGTGCAAG -3'
Sequencing Primer
(F):5'- GTGACAGGAACTTACAAAGGCTACAC -3'
(R):5'- CCATGTTGGTGCAAGAGATTG -3'
|
Posted On |
2014-11-12 |