Incidental Mutation 'R8938:Zfp974'
| ID |
680783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp974
|
| Ensembl Gene |
ENSMUSG00000070709 |
| Gene Name |
zinc finger protein 974 |
| Synonyms |
1700049G17Rik |
| MMRRC Submission |
068711-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R8938 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27606817-27628885 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 27610311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 471
(H471Q)
|
| 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: H471Q
PolyPhen 2
Score 0.738 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000096238
Gene: ENSMUSG00000070709
AA Change: H471Q
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310002L09Rik |
A |
G |
4: 73,861,424 (GRCm39) |
S59P |
probably damaging |
Het |
| Abcc8 |
G |
T |
7: 45,816,418 (GRCm39) |
H241N |
|
Het |
| Acsm1 |
T |
C |
7: 119,258,385 (GRCm39) |
S493P |
probably damaging |
Het |
| Agtr1a |
T |
C |
13: 30,565,049 (GRCm39) |
I38T |
probably damaging |
Het |
| Ahnak |
T |
C |
19: 8,989,099 (GRCm39) |
I3461T |
probably benign |
Het |
| Bbox1 |
T |
A |
2: 110,100,529 (GRCm39) |
T223S |
probably benign |
Het |
| Brip1 |
T |
C |
11: 86,039,227 (GRCm39) |
K436E |
possibly damaging |
Het |
| Cdhr1 |
T |
A |
14: 36,809,405 (GRCm39) |
T299S |
probably benign |
Het |
| Cr2 |
T |
C |
1: 194,853,424 (GRCm39) |
D18G |
probably damaging |
Het |
| Cyp51 |
T |
C |
5: 4,150,202 (GRCm39) |
I174V |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,328,754 (GRCm39) |
Y3290N |
probably damaging |
Het |
| Fcho1 |
T |
G |
8: 72,169,790 (GRCm39) |
K111T |
possibly damaging |
Het |
| Firrm |
C |
T |
1: 163,789,541 (GRCm39) |
V665I |
probably benign |
Het |
| Gli2 |
A |
T |
1: 118,763,935 (GRCm39) |
D1405E |
probably damaging |
Het |
| Gsg1l2 |
A |
G |
11: 67,680,399 (GRCm39) |
H278R |
possibly damaging |
Het |
| H2-K2 |
T |
C |
17: 34,216,294 (GRCm39) |
H284R |
probably damaging |
Het |
| Ighv1-62-1 |
C |
T |
12: 115,350,735 (GRCm39) |
W5* |
probably null |
Het |
| Ighv1-81 |
T |
A |
12: 115,883,988 (GRCm39) |
T88S |
probably benign |
Het |
| Igkv4-57 |
T |
A |
6: 69,553,256 (GRCm39) |
M19L |
probably benign |
Het |
| Klk1b3 |
G |
T |
7: 43,849,729 (GRCm39) |
W38L |
probably damaging |
Het |
| Lama3 |
T |
C |
18: 12,689,762 (GRCm39) |
S2835P |
probably damaging |
Het |
| Lhx8 |
T |
C |
3: 154,028,024 (GRCm39) |
N145S |
possibly damaging |
Het |
| Mfsd6 |
A |
T |
1: 52,748,454 (GRCm39) |
L137H |
probably damaging |
Het |
| Mmp12 |
GTAATAATAATAATAATAAT |
GTAATAATAATAATAAT |
9: 7,348,446 (GRCm39) |
|
probably benign |
Het |
| Mpst |
A |
T |
15: 78,294,270 (GRCm39) |
M1L |
possibly damaging |
Het |
| Mrpl2 |
T |
A |
17: 46,957,238 (GRCm39) |
|
probably benign |
Het |
| Mybpc3 |
T |
C |
2: 90,954,294 (GRCm39) |
V224A |
probably damaging |
Het |
| Nol4l |
T |
C |
2: 153,262,651 (GRCm39) |
D63G |
probably damaging |
Het |
| Or8g36 |
A |
T |
9: 39,422,910 (GRCm39) |
Y35* |
probably null |
Het |
| Patz1 |
C |
T |
11: 3,240,660 (GRCm39) |
T16I |
probably damaging |
Het |
| Pcdha3 |
A |
G |
18: 37,080,154 (GRCm39) |
I299V |
probably benign |
Het |
| Pcdhb18 |
G |
T |
18: 37,623,537 (GRCm39) |
R289L |
probably benign |
Het |
| Pcdhga6 |
A |
T |
18: 37,841,562 (GRCm39) |
R427S |
probably benign |
Het |
| Pcdhga8 |
T |
A |
18: 37,859,955 (GRCm39) |
V337E |
probably damaging |
Het |
| Pik3c2b |
T |
A |
1: 133,016,068 (GRCm39) |
W877R |
probably benign |
Het |
| Plcg2 |
T |
C |
8: 118,231,114 (GRCm39) |
|
probably null |
Het |
| Prp2 |
C |
A |
6: 132,577,581 (GRCm39) |
H289Q |
unknown |
Het |
| Rac2 |
A |
G |
15: 78,446,112 (GRCm39) |
L192P |
probably damaging |
Het |
| Rfx4 |
T |
A |
10: 84,675,936 (GRCm39) |
Y51N |
probably damaging |
Het |
| Rptn |
A |
T |
3: 93,302,332 (GRCm39) |
Q16L |
possibly damaging |
Het |
| Ryr1 |
C |
T |
7: 28,801,358 (GRCm39) |
G802D |
probably damaging |
Het |
| Shroom3 |
T |
C |
5: 93,090,930 (GRCm39) |
S1146P |
probably damaging |
Het |
| Stam |
T |
C |
2: 14,133,984 (GRCm39) |
|
probably null |
Het |
| Vmn2r100 |
A |
G |
17: 19,751,825 (GRCm39) |
M623V |
probably benign |
Het |
| Wdr90 |
G |
A |
17: 26,076,146 (GRCm39) |
R104C |
|
Het |
| Xkr7 |
T |
C |
2: 152,874,133 (GRCm39) |
F67L |
probably damaging |
Het |
| Zfp451 |
A |
T |
1: 33,842,063 (GRCm39) |
|
probably benign |
Het |
| Zfp609 |
C |
T |
9: 65,610,561 (GRCm39) |
A801T |
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 |
|
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 |
|
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'- TGGGAAGATGGAAAGCCTTTC -3'
(R):5'- AAGGCCTTCATTGTTCTGGCTC -3'
Sequencing Primer
(F):5'- CACTACTGTGAGACTTCTGATGACG -3'
(R):5'- GGCATCAGACCATTCATACTGGAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation