Incidental Mutation 'R4483:Zfp507'
ID |
331495 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp507
|
Ensembl Gene |
ENSMUSG00000044452 |
Gene Name |
zinc finger protein 507 |
Synonyms |
A230056M16Rik, 1810022O10Rik |
MMRRC Submission |
041739-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.228)
|
Stock # |
R4483 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
35471768-35502428 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 35487141 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145751
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061586]
[ENSMUST00000187282]
[ENSMUST00000205670]
[ENSMUST00000206615]
|
AlphaFold |
Q6ZPY5 |
Predicted Effect |
probably null
Transcript: ENSMUST00000061586
|
SMART Domains |
Protein: ENSMUSP00000058609 Gene: ENSMUSG00000044452
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 null
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
|
Predicted Effect |
probably null
Transcript: ENSMUST00000206615
|
Meta Mutation Damage Score |
0.9493 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
Validation Efficiency |
97% (36/37) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
C |
T |
13: 81,567,349 (GRCm39) |
G5275S |
probably benign |
Het |
Akap11 |
A |
G |
14: 78,747,699 (GRCm39) |
S1563P |
probably damaging |
Het |
Ankrd50 |
A |
G |
3: 38,511,680 (GRCm39) |
V229A |
probably damaging |
Het |
AW112010 |
A |
G |
19: 11,027,757 (GRCm39) |
|
noncoding transcript |
Het |
Ccdc158 |
A |
G |
5: 92,781,187 (GRCm39) |
S873P |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,802,214 (GRCm39) |
V1104A |
probably benign |
Het |
Chil4 |
G |
A |
3: 106,121,678 (GRCm39) |
A57V |
probably damaging |
Het |
Cpa5 |
A |
G |
6: 30,624,625 (GRCm39) |
E155G |
probably damaging |
Het |
Ctsq |
T |
C |
13: 61,186,726 (GRCm39) |
I93V |
probably benign |
Het |
Dbi |
A |
T |
1: 120,048,535 (GRCm39) |
I37K |
probably benign |
Het |
Defa35 |
T |
C |
8: 21,555,208 (GRCm39) |
S43P |
probably damaging |
Het |
Fance |
T |
A |
17: 28,534,781 (GRCm39) |
|
probably benign |
Het |
Fbxl6 |
A |
G |
15: 76,422,129 (GRCm39) |
L180P |
probably damaging |
Het |
Fkbpl |
T |
C |
17: 34,865,269 (GRCm39) |
F346L |
probably damaging |
Het |
Gm11735 |
C |
A |
11: 116,632,101 (GRCm39) |
|
noncoding transcript |
Het |
Gm28042 |
T |
C |
2: 119,866,321 (GRCm39) |
I373T |
possibly damaging |
Het |
Golga4 |
T |
C |
9: 118,343,254 (GRCm39) |
S27P |
probably damaging |
Het |
Gstm1 |
C |
T |
3: 107,923,834 (GRCm39) |
|
probably null |
Het |
Lama3 |
T |
A |
18: 12,682,310 (GRCm39) |
I1092K |
probably benign |
Het |
Med15 |
A |
T |
16: 17,489,428 (GRCm39) |
|
probably benign |
Het |
Nlrp6 |
A |
G |
7: 140,501,694 (GRCm39) |
D87G |
probably damaging |
Het |
Parp11 |
A |
G |
6: 127,448,568 (GRCm39) |
T62A |
probably benign |
Het |
Pcnt |
A |
G |
10: 76,237,317 (GRCm39) |
L1323S |
probably damaging |
Het |
Ppp2r1a |
C |
T |
17: 21,176,072 (GRCm39) |
T98I |
probably benign |
Het |
Pramel11 |
T |
A |
4: 143,622,410 (GRCm39) |
Y315F |
probably damaging |
Het |
Prl7a2 |
T |
A |
13: 27,844,930 (GRCm39) |
H152L |
possibly damaging |
Het |
Rnf145 |
T |
C |
11: 44,455,104 (GRCm39) |
S662P |
probably benign |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Tnfaip3 |
A |
T |
10: 18,887,375 (GRCm39) |
M50K |
probably damaging |
Het |
Txlnb |
T |
TTA |
10: 17,714,745 (GRCm39) |
|
probably null |
Het |
Usp9x |
A |
G |
X: 12,987,687 (GRCm39) |
D638G |
possibly damaging |
Het |
Vmn1r30 |
A |
T |
6: 58,412,118 (GRCm39) |
V238E |
probably damaging |
Het |
Zfp532 |
G |
T |
18: 65,789,636 (GRCm39) |
W1025L |
probably benign |
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 |
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'- TGCTGAACTGAGACTCACGC -3'
(R):5'- CCTTGGCACGTAGTATCATAATTAC -3'
Sequencing Primer
(F):5'- GCTGAACTGAGACTCACGCTTAATG -3'
(R):5'- CATGATGAGGTGTAAATGCTCCC -3'
|
Posted On |
2015-07-21 |