Incidental Mutation 'R4303:Zfp974'
| ID |
322494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp974
|
| Ensembl Gene |
ENSMUSG00000070709 |
| Gene Name |
zinc finger protein 974 |
| Synonyms |
1700049G17Rik |
| MMRRC Submission |
041090-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R4303 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27606817-27628885 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 27609657 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 689
(K689N)
|
| 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: K689N
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000096238
Gene: ENSMUSG00000070709
AA Change: K689N
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.1%
|
| Validation Efficiency |
98% (44/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
T |
C |
5: 24,606,055 (GRCm39) |
S247P |
probably damaging |
Het |
| Atg4b |
A |
G |
1: 93,695,984 (GRCm39) |
E41G |
probably benign |
Het |
| Bckdk |
T |
C |
7: 127,504,502 (GRCm39) |
|
probably benign |
Het |
| Cacna2d1 |
A |
G |
5: 16,507,246 (GRCm39) |
|
probably null |
Het |
| Chaf1a |
A |
G |
17: 56,351,068 (GRCm39) |
D16G |
unknown |
Het |
| Defb12 |
A |
G |
8: 19,162,737 (GRCm39) |
I65T |
probably benign |
Het |
| Dnah7c |
T |
C |
1: 46,787,738 (GRCm39) |
Y3264H |
probably damaging |
Het |
| Ehhadh |
C |
A |
16: 21,581,602 (GRCm39) |
K463N |
probably damaging |
Het |
| Ehmt2 |
G |
A |
17: 35,127,724 (GRCm39) |
R901Q |
possibly damaging |
Het |
| Entrep1 |
G |
A |
19: 23,952,993 (GRCm39) |
A439V |
probably damaging |
Het |
| Entrep1 |
C |
T |
19: 23,953,002 (GRCm39) |
S436N |
probably damaging |
Het |
| Ern2 |
T |
C |
7: 121,777,069 (GRCm39) |
|
probably null |
Het |
| Esp6 |
A |
G |
17: 40,876,035 (GRCm39) |
T28A |
possibly damaging |
Het |
| Gm17333 |
A |
C |
16: 77,649,767 (GRCm39) |
|
noncoding transcript |
Het |
| Heatr5a |
T |
C |
12: 52,003,008 (GRCm39) |
T165A |
probably benign |
Het |
| Hoxa5 |
T |
C |
6: 52,181,240 (GRCm39) |
S31G |
probably benign |
Het |
| Ift80 |
A |
G |
3: 68,801,507 (GRCm39) |
I744T |
probably benign |
Het |
| Kalrn |
T |
C |
16: 34,055,761 (GRCm39) |
K853E |
probably damaging |
Het |
| Krt36 |
A |
T |
11: 99,994,239 (GRCm39) |
D279E |
possibly damaging |
Het |
| Map3k11 |
T |
A |
19: 5,740,852 (GRCm39) |
V193E |
probably damaging |
Het |
| Mrgpra4 |
T |
A |
7: 47,630,684 (GRCm39) |
M306L |
probably benign |
Het |
| Myo1a |
A |
G |
10: 127,549,602 (GRCm39) |
T428A |
probably benign |
Het |
| Nuggc |
A |
G |
14: 65,848,621 (GRCm39) |
H174R |
possibly damaging |
Het |
| Or14c40 |
G |
A |
7: 86,313,163 (GRCm39) |
V98M |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,664 (GRCm39) |
M163K |
possibly damaging |
Het |
| Pigr |
G |
A |
1: 130,769,554 (GRCm39) |
D122N |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,494,084 (GRCm39) |
R349* |
probably null |
Het |
| Rfxank |
T |
C |
8: 70,588,862 (GRCm39) |
D89G |
probably damaging |
Het |
| Rsf1 |
CGGCGGCGG |
CGGCGGCGGTGGCGGCGG |
7: 97,229,127 (GRCm39) |
|
probably benign |
Het |
| Serpina1a |
A |
G |
12: 103,820,934 (GRCm39) |
L348P |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 43,991,898 (GRCm39) |
Y701C |
unknown |
Het |
| Six4 |
G |
T |
12: 73,159,314 (GRCm39) |
D207E |
possibly damaging |
Het |
| Slco3a1 |
G |
T |
7: 74,204,276 (GRCm39) |
D21E |
probably benign |
Het |
| Sox6 |
C |
T |
7: 115,143,704 (GRCm39) |
|
probably null |
Het |
| Spta1 |
A |
G |
1: 174,007,418 (GRCm39) |
N216S |
probably damaging |
Het |
| Stard13 |
T |
C |
5: 150,986,334 (GRCm39) |
N392S |
possibly damaging |
Het |
| Tax1bp1 |
T |
C |
6: 52,704,263 (GRCm39) |
V81A |
possibly damaging |
Het |
| Trim29 |
G |
T |
9: 43,222,419 (GRCm39) |
V83L |
probably damaging |
Het |
| Vmn1r90 |
C |
T |
7: 14,295,495 (GRCm39) |
W201* |
probably null |
Het |
| Wdr31 |
T |
A |
4: 62,378,626 (GRCm39) |
N7I |
probably damaging |
Het |
| Ypel4 |
A |
G |
2: 84,567,151 (GRCm39) |
|
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,780,843 (GRCm39) |
K640E |
probably damaging |
Het |
| Zfp579 |
A |
G |
7: 4,996,072 (GRCm39) |
|
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 |
|
|
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 |
|
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'- GAAGGCCTGAGCTCAAATTG -3'
(R):5'- CAAGCCTATTGCACCATCGG -3'
Sequencing Primer
(F):5'- GGCCTGAGCTCAAATTGAAGTTC -3'
(R):5'- GCACCATCGGAAAATTCATTCTG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation