Incidental Mutation 'R1411:Zfp974'
ID |
200804 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp974
|
Ensembl Gene |
ENSMUSG00000070709 |
Gene Name |
zinc finger protein 974 |
Synonyms |
1700049G17Rik |
MMRRC Submission |
039467-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.063)
|
Stock # |
R1411 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
27606817-27628885 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27610634 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 364
(S364P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096238
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098639]
[ENSMUST00000129341]
|
AlphaFold |
Q3UVF6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000098639
AA Change: S364P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000096238 Gene: ENSMUSG00000070709 AA Change: S364P
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
|
SMART Domains |
Protein: ENSMUSP00000115940 Gene: ENSMUSG00000070709
Domain | Start | End | E-Value | Type |
KRAB
|
14 |
75 |
7.5e-37 |
SMART |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.5%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
T |
A |
8: 71,914,374 (GRCm39) |
I85F |
probably damaging |
Het |
Acp4 |
A |
G |
7: 43,906,267 (GRCm39) |
|
probably benign |
Het |
Baz1b |
T |
C |
5: 135,259,177 (GRCm39) |
F1080L |
possibly damaging |
Het |
Cbx5 |
A |
T |
15: 103,121,547 (GRCm39) |
M30K |
probably benign |
Het |
Cdc73 |
A |
G |
1: 143,485,252 (GRCm39) |
|
probably benign |
Het |
Cdcp1 |
A |
T |
9: 123,019,177 (GRCm39) |
L34Q |
probably damaging |
Het |
Chd8 |
C |
T |
14: 52,462,103 (GRCm39) |
V738I |
probably benign |
Het |
Cpeb2 |
T |
G |
5: 43,391,113 (GRCm39) |
|
probably benign |
Het |
Cyp2c67 |
T |
A |
19: 39,627,035 (GRCm39) |
D265V |
probably damaging |
Het |
Cyp2j11 |
A |
G |
4: 96,233,453 (GRCm39) |
I81T |
probably benign |
Het |
Dbx2 |
T |
C |
15: 95,530,262 (GRCm39) |
E235G |
probably damaging |
Het |
Dgkq |
C |
A |
5: 108,798,228 (GRCm39) |
V677F |
probably damaging |
Het |
Ercc5 |
A |
G |
1: 44,217,441 (GRCm39) |
N928S |
probably damaging |
Het |
Flt1 |
C |
T |
5: 147,517,126 (GRCm39) |
V1054M |
probably damaging |
Het |
Flywch1 |
T |
C |
17: 23,974,798 (GRCm39) |
D614G |
probably damaging |
Het |
Frmd3 |
T |
C |
4: 74,071,858 (GRCm39) |
F247L |
probably damaging |
Het |
Gm1527 |
A |
G |
3: 28,968,632 (GRCm39) |
N228S |
probably benign |
Het |
Gpld1 |
T |
A |
13: 25,146,791 (GRCm39) |
L251Q |
probably damaging |
Het |
Gvin-ps3 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
Gzma |
C |
T |
13: 113,232,742 (GRCm39) |
V117I |
probably benign |
Het |
Hydin |
C |
A |
8: 111,301,663 (GRCm39) |
T3798K |
probably benign |
Het |
Il1rapl1 |
T |
A |
X: 85,790,904 (GRCm39) |
S679C |
possibly damaging |
Het |
Lrrc8c |
G |
A |
5: 105,756,045 (GRCm39) |
A607T |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,532,280 (GRCm39) |
Q118R |
possibly damaging |
Het |
Mfsd4b4 |
A |
T |
10: 39,768,136 (GRCm39) |
M319K |
probably damaging |
Het |
Mroh2b |
A |
C |
15: 4,947,799 (GRCm39) |
H538P |
probably damaging |
Het |
Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
Nup188 |
A |
G |
2: 30,233,807 (GRCm39) |
T1733A |
probably benign |
Het |
Nup58 |
A |
T |
14: 60,482,119 (GRCm39) |
|
probably benign |
Het |
Ofcc1 |
A |
G |
13: 40,296,263 (GRCm39) |
S524P |
probably benign |
Het |
Or6x1 |
C |
T |
9: 40,098,435 (GRCm39) |
T8I |
possibly damaging |
Het |
Padi4 |
C |
T |
4: 140,479,914 (GRCm39) |
S413N |
probably damaging |
Het |
Pdzrn4 |
A |
G |
15: 92,668,894 (GRCm39) |
*1015W |
probably null |
Het |
Pkhd1 |
G |
A |
1: 20,444,120 (GRCm39) |
P2314L |
probably damaging |
Het |
Serpinb9c |
C |
G |
13: 33,335,817 (GRCm39) |
V212L |
probably benign |
Het |
Slc25a23 |
A |
G |
17: 57,366,622 (GRCm39) |
F18L |
probably damaging |
Het |
Smarca4 |
C |
A |
9: 21,570,251 (GRCm39) |
N751K |
probably damaging |
Het |
Tfip11 |
G |
T |
5: 112,480,899 (GRCm39) |
V292L |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,751,702 (GRCm39) |
K1201R |
unknown |
Het |
Vmn1r199 |
T |
C |
13: 22,567,671 (GRCm39) |
F322L |
probably benign |
Het |
Vmn1r201 |
T |
C |
13: 22,658,849 (GRCm39) |
V21A |
probably benign |
Het |
Vmn2r108 |
A |
T |
17: 20,683,107 (GRCm39) |
I699K |
probably damaging |
Het |
Vmn2r117 |
T |
C |
17: 23,679,527 (GRCm39) |
N566D |
probably damaging |
Het |
Wdr12 |
A |
T |
1: 60,127,231 (GRCm39) |
D141E |
probably benign |
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 |
|
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 |
R4006:Zfp974
|
UTSW |
7 |
27,611,677 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- GACTTCCCACATACCTTGCACTCAAA -3'
(R):5'- CTGACCTGCTCAAGTACCATAAAACCAT -3'
Sequencing Primer
(F):5'- aagcctaaagaccttcccac -3'
(R):5'- AAAACCATTCATACAAGTACAAAACC -3'
|
Posted On |
2014-05-23 |