Incidental Mutation 'R5707:Zfp507'
ID |
452017 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp507
|
Ensembl Gene |
ENSMUSG00000044452 |
Gene Name |
zinc finger protein 507 |
Synonyms |
A230056M16Rik, 1810022O10Rik |
MMRRC Submission |
043332-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.190)
|
Stock # |
R5707 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
35471768-35502428 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 35493588 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Glutamic Acid
at position 485
(A485E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058609
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061586]
[ENSMUST00000187282]
[ENSMUST00000205670]
[ENSMUST00000206615]
|
AlphaFold |
Q6ZPY5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000061586
AA Change: A485E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000058609 Gene: ENSMUSG00000044452 AA Change: A485E
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000206615
|
Meta Mutation Damage Score |
0.1557 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
Validation Efficiency |
97% (56/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,460,620 (GRCm39) |
L4210P |
probably damaging |
Het |
Adcy6 |
T |
C |
15: 98,496,622 (GRCm39) |
T518A |
probably damaging |
Het |
Adgb |
C |
T |
10: 10,267,501 (GRCm39) |
V940I |
probably damaging |
Het |
Aqp11 |
A |
G |
7: 97,386,635 (GRCm39) |
V187A |
possibly damaging |
Het |
Arhgef15 |
A |
G |
11: 68,845,541 (GRCm39) |
S104P |
probably damaging |
Het |
Birc6 |
T |
A |
17: 75,003,399 (GRCm39) |
N4762K |
probably damaging |
Het |
Cacna1e |
T |
C |
1: 154,509,463 (GRCm39) |
D264G |
probably damaging |
Het |
Cela3b |
G |
T |
4: 137,152,167 (GRCm39) |
Q97K |
probably damaging |
Het |
Cenpc1 |
T |
A |
5: 86,183,293 (GRCm39) |
R499W |
possibly damaging |
Het |
Chct1 |
A |
G |
11: 85,064,138 (GRCm39) |
N93S |
probably benign |
Het |
Cnr1 |
C |
A |
4: 33,944,330 (GRCm39) |
C239* |
probably null |
Het |
Col6a2 |
T |
C |
10: 76,446,865 (GRCm39) |
K348E |
possibly damaging |
Het |
Ctnnb1 |
C |
A |
9: 120,784,234 (GRCm39) |
L368I |
probably benign |
Het |
Diras1 |
T |
C |
10: 80,857,915 (GRCm39) |
E112G |
probably benign |
Het |
Dop1a |
T |
A |
9: 86,385,050 (GRCm39) |
M332K |
possibly damaging |
Het |
Dpy19l1 |
T |
C |
9: 24,325,563 (GRCm39) |
*747W |
probably null |
Het |
Dydc2 |
T |
G |
14: 40,783,911 (GRCm39) |
T71P |
probably damaging |
Het |
Elapor2 |
A |
G |
5: 9,491,698 (GRCm39) |
Y686C |
probably damaging |
Het |
Ggt1 |
T |
A |
10: 75,421,072 (GRCm39) |
I429N |
probably benign |
Het |
Gm5114 |
G |
C |
7: 39,060,700 (GRCm39) |
L50V |
probably benign |
Het |
Gm5121 |
T |
G |
9: 57,241,766 (GRCm39) |
|
noncoding transcript |
Het |
Kidins220 |
A |
G |
12: 25,063,390 (GRCm39) |
D933G |
probably damaging |
Het |
Kirrel3 |
A |
G |
9: 34,924,572 (GRCm39) |
K286R |
probably damaging |
Het |
Klf5 |
T |
C |
14: 99,538,944 (GRCm39) |
I39T |
probably benign |
Het |
Krt14 |
C |
T |
11: 100,095,584 (GRCm39) |
V274I |
possibly damaging |
Het |
Meiob |
A |
G |
17: 25,054,025 (GRCm39) |
D364G |
probably benign |
Het |
Mroh7 |
T |
A |
4: 106,539,082 (GRCm39) |
E1190D |
possibly damaging |
Het |
Mtmr7 |
T |
C |
8: 41,011,203 (GRCm39) |
E285G |
possibly damaging |
Het |
Nhsl1 |
C |
T |
10: 18,402,251 (GRCm39) |
T1159M |
probably damaging |
Het |
Odad4 |
G |
A |
11: 100,444,887 (GRCm39) |
A348T |
probably damaging |
Het |
Or1af1 |
C |
A |
2: 37,109,901 (GRCm39) |
N133K |
probably benign |
Het |
Or1e23 |
G |
T |
11: 73,407,451 (GRCm39) |
D191E |
probably damaging |
Het |
Or2b2b |
A |
G |
13: 21,858,769 (GRCm39) |
L115P |
probably damaging |
Het |
Pcare |
G |
T |
17: 72,058,567 (GRCm39) |
A370E |
possibly damaging |
Het |
Pdlim5 |
T |
A |
3: 142,010,060 (GRCm39) |
H294L |
probably damaging |
Het |
Pdzd8 |
A |
T |
19: 59,288,057 (GRCm39) |
D1114E |
probably benign |
Het |
Phf20 |
T |
G |
2: 156,138,691 (GRCm39) |
|
probably null |
Het |
Plec |
C |
T |
15: 76,083,871 (GRCm39) |
|
probably benign |
Het |
Ppp1r18 |
T |
C |
17: 36,178,128 (GRCm39) |
M1T |
probably null |
Het |
Ppp4r3a |
G |
A |
12: 101,024,770 (GRCm39) |
T243I |
probably damaging |
Het |
Prss41 |
C |
T |
17: 24,061,390 (GRCm39) |
V134I |
probably benign |
Het |
Pter |
T |
C |
2: 12,982,991 (GRCm39) |
|
probably benign |
Het |
Rasgef1b |
T |
G |
5: 99,382,461 (GRCm39) |
K176N |
possibly damaging |
Het |
Reps1 |
T |
A |
10: 17,931,758 (GRCm39) |
D16E |
probably benign |
Het |
Slc4a5 |
T |
A |
6: 83,238,397 (GRCm39) |
D73E |
probably benign |
Het |
Smgc |
A |
T |
15: 91,744,861 (GRCm39) |
T146S |
possibly damaging |
Het |
Sptbn1 |
A |
T |
11: 30,093,174 (GRCm39) |
W396R |
possibly damaging |
Het |
Stkld1 |
A |
G |
2: 26,833,999 (GRCm39) |
E162G |
probably damaging |
Het |
Tanc1 |
T |
C |
2: 59,588,874 (GRCm39) |
F106L |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,193,883 (GRCm39) |
Y340H |
probably damaging |
Het |
Tenm2 |
T |
C |
11: 35,938,009 (GRCm39) |
I1556V |
possibly damaging |
Het |
Tmem64 |
T |
C |
4: 15,266,288 (GRCm39) |
C113R |
probably damaging |
Het |
Try4 |
T |
C |
6: 41,281,977 (GRCm39) |
F188L |
possibly damaging |
Het |
Ucn3 |
A |
G |
13: 3,991,556 (GRCm39) |
V32A |
probably benign |
Het |
Vmn2r83 |
T |
A |
10: 79,327,183 (GRCm39) |
M597K |
possibly damaging |
Het |
Wdr90 |
A |
G |
17: 26,076,166 (GRCm39) |
V491A |
probably benign |
Het |
Xylt1 |
T |
A |
7: 117,255,717 (GRCm39) |
M763K |
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 |
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 |
|
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'- TGCCCATCTGACAATTCCTG -3'
(R):5'- GCAGGAAATATGTACCATGCTG -3'
Sequencing Primer
(F):5'- AGCTACCACAGTGGAATTGCTTTG -3'
(R):5'- GTACCATGCTGATAAATGTACTGTTG -3'
|
Posted On |
2017-01-03 |