Incidental Mutation 'R1626:Zfp507'
ID |
172497 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp507
|
Ensembl Gene |
ENSMUSG00000044452 |
Gene Name |
zinc finger protein 507 |
Synonyms |
A230056M16Rik, 1810022O10Rik |
MMRRC Submission |
039663-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.228)
|
Stock # |
R1626 (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 35494858 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 62
(K62E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146278
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061586]
[ENSMUST00000187282]
[ENSMUST00000205670]
[ENSMUST00000206615]
|
AlphaFold |
Q6ZPY5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061586
AA Change: K62E
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000058609 Gene: ENSMUSG00000044452 AA Change: K62E
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 damaging
Transcript: ENSMUST00000205670
AA Change: K62E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206615
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 90.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700020N01Rik |
T |
C |
10: 21,497,571 (GRCm39) |
Y71H |
possibly damaging |
Het |
Acsl6 |
C |
A |
11: 54,242,872 (GRCm39) |
P628T |
probably damaging |
Het |
Ak7 |
A |
G |
12: 105,734,807 (GRCm39) |
D591G |
probably benign |
Het |
Anxa5 |
T |
C |
3: 36,516,130 (GRCm39) |
D66G |
probably damaging |
Het |
Cacna1b |
G |
A |
2: 24,496,721 (GRCm39) |
T2283I |
probably damaging |
Het |
Cand1 |
A |
T |
10: 119,045,919 (GRCm39) |
D995E |
possibly damaging |
Het |
Cblc |
G |
T |
7: 19,530,427 (GRCm39) |
A94E |
probably damaging |
Het |
Cd48 |
G |
A |
1: 171,509,687 (GRCm39) |
C9Y |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,721,224 (GRCm39) |
K1004R |
probably benign |
Het |
Cilk1 |
A |
G |
9: 78,057,919 (GRCm39) |
Y156C |
probably damaging |
Het |
Cldn1 |
T |
C |
16: 26,190,202 (GRCm39) |
T59A |
probably damaging |
Het |
Col11a1 |
G |
A |
3: 113,925,218 (GRCm39) |
G17D |
probably damaging |
Het |
Cpeb1 |
A |
G |
7: 81,085,995 (GRCm39) |
V49A |
probably damaging |
Het |
Cyp4b1 |
G |
T |
4: 115,498,855 (GRCm39) |
P109Q |
probably damaging |
Het |
Dhrs7b |
T |
A |
11: 60,735,082 (GRCm39) |
F23I |
possibly damaging |
Het |
Dnah9 |
C |
A |
11: 65,976,093 (GRCm39) |
A1319S |
probably benign |
Het |
Egf |
A |
T |
3: 129,479,864 (GRCm39) |
V553D |
possibly damaging |
Het |
Fbn1 |
T |
C |
2: 125,183,199 (GRCm39) |
D1760G |
probably damaging |
Het |
Fbxo31 |
A |
G |
8: 122,286,745 (GRCm39) |
F178L |
probably damaging |
Het |
Fstl4 |
C |
A |
11: 52,891,117 (GRCm39) |
S85* |
probably null |
Het |
Gfm1 |
A |
G |
3: 67,345,977 (GRCm39) |
Y225C |
probably damaging |
Het |
Gm10797 |
A |
T |
10: 67,408,453 (GRCm39) |
|
noncoding transcript |
Het |
H3c8 |
G |
A |
13: 23,719,721 (GRCm39) |
V36M |
probably damaging |
Het |
Heatr4 |
T |
A |
12: 84,020,495 (GRCm39) |
I499L |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,896,705 (GRCm39) |
M1287K |
probably benign |
Het |
Inpp5b |
C |
A |
4: 124,677,696 (GRCm39) |
D385E |
probably damaging |
Het |
Lrrc9 |
A |
G |
12: 72,542,435 (GRCm39) |
|
probably null |
Het |
Ltb4r1 |
A |
G |
14: 56,004,699 (GRCm39) |
M1V |
probably null |
Het |
Macf1 |
T |
C |
4: 123,365,327 (GRCm39) |
I3145V |
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,017,450 (GRCm39) |
N277S |
probably damaging |
Het |
Megf6 |
G |
T |
4: 154,261,578 (GRCm39) |
V68L |
probably benign |
Het |
Mgat4e |
A |
G |
1: 134,469,016 (GRCm39) |
Y343H |
probably benign |
Het |
Noxred1 |
T |
C |
12: 87,268,029 (GRCm39) |
*367W |
probably null |
Het |
Nup58 |
A |
T |
14: 60,480,076 (GRCm39) |
L190* |
probably null |
Het |
Olfml2a |
G |
T |
2: 38,841,275 (GRCm39) |
K270N |
probably damaging |
Het |
Or5c1 |
A |
G |
2: 37,222,774 (GRCm39) |
|
probably null |
Het |
Or7g32 |
A |
G |
9: 19,389,495 (GRCm39) |
L14P |
probably damaging |
Het |
Phgdh |
G |
T |
3: 98,223,725 (GRCm39) |
Q359K |
probably benign |
Het |
Plpp5 |
G |
T |
8: 26,212,604 (GRCm39) |
C200F |
possibly damaging |
Het |
Pole |
A |
C |
5: 110,441,235 (GRCm39) |
I230L |
probably benign |
Het |
Prtg |
A |
T |
9: 72,752,193 (GRCm39) |
D193V |
probably damaging |
Het |
Ptgs2 |
G |
A |
1: 149,979,619 (GRCm39) |
|
probably null |
Het |
Ptprz1 |
A |
T |
6: 23,001,573 (GRCm39) |
Q1221L |
probably benign |
Het |
Rufy2 |
T |
C |
10: 62,831,151 (GRCm39) |
I204T |
probably benign |
Het |
Rybp |
A |
G |
6: 100,209,919 (GRCm39) |
S115P |
possibly damaging |
Het |
Samd13 |
A |
G |
3: 146,368,481 (GRCm39) |
V37A |
probably benign |
Het |
Secisbp2l |
T |
G |
2: 125,617,606 (GRCm39) |
K24Q |
probably damaging |
Het |
Sorbs2 |
A |
G |
8: 46,222,891 (GRCm39) |
Y198C |
probably damaging |
Het |
Svil |
T |
G |
18: 5,117,099 (GRCm39) |
|
probably null |
Het |
Ttc24 |
G |
T |
3: 87,977,366 (GRCm39) |
R127S |
probably benign |
Het |
Ttn |
C |
T |
2: 76,588,888 (GRCm39) |
V21394M |
probably damaging |
Het |
Tubal3 |
G |
T |
13: 3,982,841 (GRCm39) |
C207F |
probably damaging |
Het |
Vmn2r16 |
A |
T |
5: 109,511,443 (GRCm39) |
D550V |
probably damaging |
Het |
Vmn2r2 |
T |
A |
3: 64,041,921 (GRCm39) |
I265F |
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 |
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 |
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'- TGAGCATCACGTCATGCTGCTG -3'
(R):5'- GCCATGTTGGTGCAAGAGATTGGAG -3'
Sequencing Primer
(F):5'- TACACTGGTAGGACATAGCCTTC -3'
(R):5'- TTGGAGAACCGGAGGCTG -3'
|
Posted On |
2014-04-24 |