Incidental Mutation 'R4006:Zfp974'
ID |
311472 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp974
|
Ensembl Gene |
ENSMUSG00000070709 |
Gene Name |
zinc finger protein 974 |
Synonyms |
1700049G17Rik |
MMRRC Submission |
040845-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R4006 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
27606817-27628885 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 27611677 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 16
(T16I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098639]
[ENSMUST00000129341]
|
AlphaFold |
Q3UVF6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000098639
AA Change: T16I
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000096238 Gene: ENSMUSG00000070709 AA Change: T16I
Domain | Start | End | E-Value | Type |
ZnF_C2H2
|
99 |
121 |
8.81e-2 |
SMART |
ZnF_C2H2
|
127 |
149 |
1.82e-3 |
SMART |
ZnF_C2H2
|
155 |
177 |
3.11e-2 |
SMART |
ZnF_C2H2
|
201 |
223 |
2.15e-5 |
SMART |
ZnF_C2H2
|
229 |
251 |
1.18e-2 |
SMART |
ZnF_C2H2
|
257 |
279 |
1.47e-3 |
SMART |
ZnF_C2H2
|
285 |
307 |
1.79e-2 |
SMART |
ZnF_C2H2
|
313 |
335 |
2.24e-3 |
SMART |
ZnF_C2H2
|
341 |
363 |
9.73e-4 |
SMART |
ZnF_C2H2
|
369 |
391 |
7.26e-3 |
SMART |
ZnF_C2H2
|
397 |
419 |
6.42e-4 |
SMART |
ZnF_C2H2
|
425 |
447 |
3.63e-3 |
SMART |
ZnF_C2H2
|
453 |
475 |
1.28e-3 |
SMART |
ZnF_C2H2
|
481 |
503 |
1.26e-2 |
SMART |
ZnF_C2H2
|
509 |
531 |
1.38e-3 |
SMART |
ZnF_C2H2
|
537 |
559 |
3.83e-2 |
SMART |
ZnF_C2H2
|
565 |
587 |
1.95e-3 |
SMART |
ZnF_C2H2
|
593 |
615 |
4.61e-5 |
SMART |
ZnF_C2H2
|
621 |
643 |
1.95e-3 |
SMART |
ZnF_C2H2
|
649 |
671 |
1.03e-2 |
SMART |
ZnF_C2H2
|
677 |
699 |
5.5e-3 |
SMART |
ZnF_C2H2
|
705 |
727 |
2.37e2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000129341
AA Change: T90I
PolyPhen 2
Score 0.355 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000115940 Gene: ENSMUSG00000070709 AA Change: T90I
Domain | Start | End | E-Value | Type |
KRAB
|
14 |
75 |
7.5e-37 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
A |
G |
10: 61,038,600 (GRCm39) |
|
probably null |
Het |
Ano4 |
C |
A |
10: 88,924,125 (GRCm39) |
V329L |
probably benign |
Het |
Camkv |
C |
T |
9: 107,823,840 (GRCm39) |
R196W |
probably damaging |
Het |
Chd9 |
T |
C |
8: 91,660,188 (GRCm39) |
S383P |
probably benign |
Het |
Cimip1 |
T |
C |
2: 173,367,880 (GRCm39) |
|
probably null |
Het |
Cul4a |
A |
G |
8: 13,172,859 (GRCm39) |
N164S |
probably benign |
Het |
Dsg4 |
G |
A |
18: 20,604,022 (GRCm39) |
E830K |
probably damaging |
Het |
Fbln2 |
C |
A |
6: 91,246,943 (GRCm39) |
|
probably null |
Het |
Grm8 |
T |
C |
6: 27,981,229 (GRCm39) |
Y227C |
probably damaging |
Het |
Gsn |
G |
A |
2: 35,197,633 (GRCm39) |
W717* |
probably null |
Het |
Htr2a |
A |
T |
14: 74,879,581 (GRCm39) |
H70L |
probably benign |
Het |
Igfn1 |
C |
T |
1: 135,910,100 (GRCm39) |
|
probably null |
Het |
Iqsec3 |
A |
G |
6: 121,353,187 (GRCm39) |
S1144P |
probably damaging |
Het |
Lpin2 |
C |
T |
17: 71,553,496 (GRCm39) |
T878I |
probably damaging |
Het |
Lrrn2 |
A |
T |
1: 132,865,478 (GRCm39) |
D181V |
probably damaging |
Het |
Mc1r |
T |
C |
8: 124,134,376 (GRCm39) |
F43S |
probably damaging |
Het |
Mst1 |
A |
G |
9: 107,960,147 (GRCm39) |
E377G |
possibly damaging |
Het |
Nfatc3 |
T |
A |
8: 106,835,471 (GRCm39) |
I931N |
probably benign |
Het |
Nup188 |
G |
A |
2: 30,199,890 (GRCm39) |
D305N |
probably damaging |
Het |
Or5e1 |
C |
T |
7: 108,354,468 (GRCm39) |
T135I |
probably damaging |
Het |
Or8k35 |
T |
C |
2: 86,424,908 (GRCm39) |
D88G |
probably benign |
Het |
Pate3 |
T |
A |
9: 35,557,398 (GRCm39) |
H86L |
probably damaging |
Het |
Pla2r1 |
A |
T |
2: 60,353,217 (GRCm39) |
F248Y |
probably damaging |
Het |
Ppp1r37 |
A |
G |
7: 19,268,994 (GRCm39) |
S169P |
probably damaging |
Het |
Pramex1 |
A |
T |
X: 134,514,374 (GRCm39) |
L305Q |
probably damaging |
Het |
Prkcg |
G |
A |
7: 3,375,983 (GRCm39) |
V492I |
probably damaging |
Het |
Psmb11 |
T |
A |
14: 54,863,103 (GRCm39) |
V107E |
probably damaging |
Het |
Reg1 |
A |
G |
6: 78,404,013 (GRCm39) |
D60G |
probably null |
Het |
Shoc1 |
A |
T |
4: 59,076,500 (GRCm39) |
V481D |
possibly damaging |
Het |
Syce1 |
C |
A |
7: 140,359,809 (GRCm39) |
L83F |
probably damaging |
Het |
Trim23 |
A |
G |
13: 104,324,131 (GRCm39) |
T177A |
probably benign |
Het |
Xkr4 |
A |
T |
1: 3,491,998 (GRCm39) |
F308L |
probably benign |
Het |
Xylt1 |
A |
G |
7: 117,074,748 (GRCm39) |
I122V |
probably benign |
Het |
Zan |
T |
C |
5: 137,462,201 (GRCm39) |
T993A |
unknown |
Het |
Zbtb20 |
T |
C |
16: 43,429,762 (GRCm39) |
L18P |
probably damaging |
Het |
Zfp292 |
T |
C |
4: 34,807,744 (GRCm39) |
I1767V |
probably benign |
Het |
Zfp292 |
G |
T |
4: 34,809,611 (GRCm39) |
S1144R |
possibly damaging |
Het |
Zfp317 |
T |
G |
9: 19,559,333 (GRCm39) |
W516G |
possibly damaging |
Het |
|
Other mutations in Zfp974 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00836:Zfp974
|
APN |
7 |
27,610,315 (GRCm39) |
missense |
possibly damaging |
0.83 |
IGL01805:Zfp974
|
APN |
7 |
27,611,689 (GRCm39) |
splice site |
probably benign |
|
IGL02313:Zfp974
|
APN |
7 |
27,611,678 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02449:Zfp974
|
APN |
7 |
27,611,152 (GRCm39) |
missense |
probably benign |
|
R0362:Zfp974
|
UTSW |
7 |
27,626,819 (GRCm39) |
splice site |
probably benign |
|
R0372:Zfp974
|
UTSW |
7 |
27,620,120 (GRCm39) |
critical splice donor site |
probably null |
|
R0379:Zfp974
|
UTSW |
7 |
27,610,357 (GRCm39) |
missense |
probably damaging |
0.98 |
R0699:Zfp974
|
UTSW |
7 |
27,611,416 (GRCm39) |
missense |
possibly damaging |
0.56 |
R0791:Zfp974
|
UTSW |
7 |
27,609,510 (GRCm39) |
nonsense |
probably null |
|
R1411:Zfp974
|
UTSW |
7 |
27,610,634 (GRCm39) |
missense |
probably benign |
0.00 |
R1567:Zfp974
|
UTSW |
7 |
27,610,148 (GRCm39) |
missense |
probably damaging |
0.99 |
R1747:Zfp974
|
UTSW |
7 |
27,610,506 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1837:Zfp974
|
UTSW |
7 |
27,609,781 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1838:Zfp974
|
UTSW |
7 |
27,609,781 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1839:Zfp974
|
UTSW |
7 |
27,609,781 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2311:Zfp974
|
UTSW |
7 |
27,609,866 (GRCm39) |
missense |
possibly damaging |
0.73 |
R4303:Zfp974
|
UTSW |
7 |
27,609,657 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4541:Zfp974
|
UTSW |
7 |
27,625,829 (GRCm39) |
missense |
probably damaging |
0.99 |
R4771:Zfp974
|
UTSW |
7 |
27,625,733 (GRCm39) |
missense |
probably damaging |
0.96 |
R4889:Zfp974
|
UTSW |
7 |
27,610,244 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5332:Zfp974
|
UTSW |
7 |
27,625,715 (GRCm39) |
missense |
probably benign |
0.01 |
R5537:Zfp974
|
UTSW |
7 |
27,611,671 (GRCm39) |
critical splice acceptor site |
probably benign |
|
R5906:Zfp974
|
UTSW |
7 |
27,610,230 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5908:Zfp974
|
UTSW |
7 |
27,610,382 (GRCm39) |
missense |
probably benign |
0.01 |
R6419:Zfp974
|
UTSW |
7 |
27,610,940 (GRCm39) |
missense |
possibly damaging |
0.72 |
R6654:Zfp974
|
UTSW |
7 |
27,625,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R6731:Zfp974
|
UTSW |
7 |
27,611,074 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7162:Zfp974
|
UTSW |
7 |
27,610,944 (GRCm39) |
missense |
possibly damaging |
0.71 |
R7316:Zfp974
|
UTSW |
7 |
27,609,863 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7484:Zfp974
|
UTSW |
7 |
27,611,559 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7663:Zfp974
|
UTSW |
7 |
27,611,110 (GRCm39) |
missense |
possibly damaging |
0.74 |
R7664:Zfp974
|
UTSW |
7 |
27,610,137 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8052:Zfp974
|
UTSW |
7 |
27,610,697 (GRCm39) |
missense |
probably damaging |
1.00 |
R8698:Zfp974
|
UTSW |
7 |
27,610,361 (GRCm39) |
missense |
possibly damaging |
0.90 |
R8700:Zfp974
|
UTSW |
7 |
27,609,472 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8938:Zfp974
|
UTSW |
7 |
27,610,311 (GRCm39) |
missense |
possibly damaging |
0.74 |
R8972:Zfp974
|
UTSW |
7 |
27,610,589 (GRCm39) |
missense |
probably benign |
0.06 |
R9212:Zfp974
|
UTSW |
7 |
27,610,052 (GRCm39) |
missense |
possibly damaging |
0.86 |
R9236:Zfp974
|
UTSW |
7 |
27,610,342 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9335:Zfp974
|
UTSW |
7 |
27,611,476 (GRCm39) |
missense |
probably benign |
0.02 |
R9436:Zfp974
|
UTSW |
7 |
27,611,094 (GRCm39) |
missense |
probably benign |
0.24 |
R9740:Zfp974
|
UTSW |
7 |
27,610,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGTAACCTTTTGACCAGCATCTC -3'
(R):5'- GGATTGGACATGTCTTCCCATTTC -3'
Sequencing Primer
(F):5'- GACCAGCATCTCCTCCTTTATAAC -3'
(R):5'- CCAACCTGCTCTACTGTAAAGTG -3'
|
Posted On |
2015-04-29 |