Incidental Mutation 'R5460:Zfp74'
| ID |
432966 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp74
|
| Ensembl Gene |
ENSMUSG00000059975 |
| Gene Name |
zinc finger protein 74 |
| Synonyms |
KRAB8, 2810054M15Rik, Zfp66 |
| MMRRC Submission |
042849-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R5460 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
29632086-29653579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29635316 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 131
(F131I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032797]
[ENSMUST00000108205]
[ENSMUST00000108211]
[ENSMUST00000108212]
|
| AlphaFold |
Q80W31 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032797
AA Change: F131I
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000032797
Gene: ENSMUSG00000059975
AA Change: F131I
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
5.02e-38 |
SMART |
|
ZnF_C2H2
|
179 |
201 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
207 |
229 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
235 |
257 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
263 |
285 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
291 |
313 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
319 |
341 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
347 |
369 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
375 |
397 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
403 |
425 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
431 |
453 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
459 |
481 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
515 |
537 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
543 |
565 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
571 |
593 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
599 |
621 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
627 |
649 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
655 |
677 |
9.88e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108205
AA Change: F131I
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000103840
Gene: ENSMUSG00000059975
AA Change: F131I
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
5.02e-38 |
SMART |
|
ZnF_C2H2
|
179 |
201 |
1.84e-4 |
SMART |
|
ZnF_C2H2
|
207 |
229 |
2.36e-2 |
SMART |
|
ZnF_C2H2
|
235 |
257 |
1.5e-4 |
SMART |
|
ZnF_C2H2
|
263 |
285 |
2.79e-4 |
SMART |
|
ZnF_C2H2
|
291 |
313 |
3.49e-5 |
SMART |
|
ZnF_C2H2
|
319 |
341 |
6.42e-4 |
SMART |
|
ZnF_C2H2
|
347 |
369 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
375 |
397 |
5.21e-4 |
SMART |
|
ZnF_C2H2
|
403 |
425 |
3.63e-3 |
SMART |
|
ZnF_C2H2
|
431 |
453 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
459 |
481 |
1.58e-3 |
SMART |
|
ZnF_C2H2
|
487 |
509 |
2.12e-4 |
SMART |
|
ZnF_C2H2
|
515 |
537 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
543 |
565 |
2.24e-3 |
SMART |
|
ZnF_C2H2
|
571 |
593 |
8.02e-5 |
SMART |
|
ZnF_C2H2
|
599 |
621 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
627 |
649 |
1.04e-3 |
SMART |
|
ZnF_C2H2
|
655 |
677 |
9.88e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108211
|
| SMART Domains |
Protein: ENSMUSP00000103846
Gene: ENSMUSG00000059975
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
5.02e-38 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108212
|
| SMART Domains |
Protein: ENSMUSP00000103847
Gene: ENSMUSG00000059975
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
8 |
68 |
5.02e-38 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149793
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
T |
A |
13: 111,392,238 (GRCm39) |
M191K |
probably benign |
Het |
| Actn1 |
T |
C |
12: 80,230,342 (GRCm39) |
N304S |
probably benign |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adamtsl2 |
T |
A |
2: 26,985,410 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,572,377 (GRCm39) |
E4928G |
possibly damaging |
Het |
| Alms1 |
T |
A |
6: 85,673,713 (GRCm39) |
C3103S |
probably benign |
Het |
| Appl2 |
T |
A |
10: 83,438,696 (GRCm39) |
I578F |
probably benign |
Het |
| Atp10b |
T |
C |
11: 43,121,282 (GRCm39) |
S982P |
probably benign |
Het |
| Brd10 |
G |
T |
19: 29,732,250 (GRCm39) |
P254Q |
probably damaging |
Het |
| Capn7 |
T |
C |
14: 31,090,160 (GRCm39) |
|
probably null |
Het |
| Cd200r3 |
A |
G |
16: 44,778,093 (GRCm39) |
T166A |
possibly damaging |
Het |
| Dctn6 |
C |
T |
8: 34,572,135 (GRCm39) |
|
probably null |
Het |
| Duxf4 |
G |
A |
10: 58,071,717 (GRCm39) |
H166Y |
possibly damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,185,776 (GRCm39) |
F366I |
probably damaging |
Het |
| Fam98b |
A |
T |
2: 117,089,737 (GRCm39) |
S85C |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,830,463 (GRCm39) |
N4344Y |
probably damaging |
Het |
| Fhl3 |
T |
G |
4: 124,599,796 (GRCm39) |
C92W |
probably damaging |
Het |
| Flrt1 |
T |
C |
19: 7,073,105 (GRCm39) |
T481A |
probably damaging |
Het |
| Gng2 |
G |
T |
14: 19,941,426 (GRCm39) |
N5K |
probably benign |
Het |
| Iqcm |
A |
T |
8: 76,441,417 (GRCm39) |
D230V |
probably benign |
Het |
| Limk2 |
T |
C |
11: 3,302,332 (GRCm39) |
I176V |
probably benign |
Het |
| Lrrk2 |
T |
A |
15: 91,698,847 (GRCm39) |
|
probably null |
Het |
| Maml1 |
T |
C |
11: 50,157,180 (GRCm39) |
T332A |
probably benign |
Het |
| Matcap2 |
T |
C |
9: 22,351,216 (GRCm39) |
F453L |
probably benign |
Het |
| Mbd1 |
T |
C |
18: 74,402,581 (GRCm39) |
F28L |
probably benign |
Het |
| Morf4l1 |
G |
A |
9: 89,977,183 (GRCm39) |
T246I |
probably benign |
Het |
| Mtres1 |
T |
C |
10: 43,408,861 (GRCm39) |
K94R |
probably benign |
Het |
| Naa12 |
C |
T |
18: 80,255,138 (GRCm39) |
A144V |
probably damaging |
Het |
| Ndufaf1 |
T |
G |
2: 119,490,958 (GRCm39) |
D34A |
probably benign |
Het |
| Or4a77 |
T |
A |
2: 89,487,414 (GRCm39) |
I124F |
probably damaging |
Het |
| Or4c114 |
C |
T |
2: 88,905,208 (GRCm39) |
V76I |
probably benign |
Het |
| Patl1 |
C |
T |
19: 11,913,082 (GRCm39) |
R542C |
possibly damaging |
Het |
| Pcdha2 |
T |
C |
18: 37,072,474 (GRCm39) |
V35A |
probably damaging |
Het |
| Phf11b |
G |
A |
14: 59,568,713 (GRCm39) |
P67S |
probably benign |
Het |
| Plxnd1 |
T |
C |
6: 115,934,609 (GRCm39) |
I1775V |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,771,386 (GRCm39) |
T2552S |
probably damaging |
Het |
| Scai |
A |
T |
2: 38,973,585 (GRCm39) |
L52H |
probably damaging |
Het |
| Scai |
G |
C |
2: 38,973,586 (GRCm39) |
L52V |
probably damaging |
Het |
| Stag1 |
A |
T |
9: 100,838,506 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,586,170 (GRCm39) |
K349R |
probably benign |
Het |
| Tpbgl |
T |
C |
7: 99,274,961 (GRCm39) |
I299V |
probably benign |
Het |
| Ttc3 |
A |
G |
16: 94,258,241 (GRCm39) |
T1325A |
probably benign |
Het |
| Ubxn11 |
A |
T |
4: 133,852,396 (GRCm39) |
E210D |
probably damaging |
Het |
| Unc13c |
T |
C |
9: 73,453,271 (GRCm39) |
I1840V |
probably benign |
Het |
|
| Other mutations in Zfp74 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0355:Zfp74
|
UTSW |
7 |
29,653,466 (GRCm39) |
start gained |
probably benign |
|
|
R0387:Zfp74
|
UTSW |
7 |
29,634,179 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0948:Zfp74
|
UTSW |
7 |
29,635,362 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1757:Zfp74
|
UTSW |
7 |
29,634,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1813:Zfp74
|
UTSW |
7 |
29,634,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1893:Zfp74
|
UTSW |
7 |
29,635,470 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1896:Zfp74
|
UTSW |
7 |
29,634,569 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1958:Zfp74
|
UTSW |
7 |
29,635,136 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2092:Zfp74
|
UTSW |
7 |
29,653,349 (GRCm39) |
start gained |
probably benign |
|
|
R2111:Zfp74
|
UTSW |
7 |
29,634,443 (GRCm39) |
nonsense |
probably null |
|
|
R4894:Zfp74
|
UTSW |
7 |
29,635,470 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R5121:Zfp74
|
UTSW |
7 |
29,631,932 (GRCm39) |
splice site |
probably null |
|
|
R5123:Zfp74
|
UTSW |
7 |
29,634,158 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5129:Zfp74
|
UTSW |
7 |
29,631,880 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5213:Zfp74
|
UTSW |
7 |
29,634,668 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5519:Zfp74
|
UTSW |
7 |
29,634,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5589:Zfp74
|
UTSW |
7 |
29,633,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6287:Zfp74
|
UTSW |
7 |
29,635,201 (GRCm39) |
missense |
probably benign |
|
|
R6330:Zfp74
|
UTSW |
7 |
29,637,412 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6370:Zfp74
|
UTSW |
7 |
29,631,835 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6407:Zfp74
|
UTSW |
7 |
29,635,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6694:Zfp74
|
UTSW |
7 |
29,634,559 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6791:Zfp74
|
UTSW |
7 |
29,633,860 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7144:Zfp74
|
UTSW |
7 |
29,634,590 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7662:Zfp74
|
UTSW |
7 |
29,653,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7667:Zfp74
|
UTSW |
7 |
29,634,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7898:Zfp74
|
UTSW |
7 |
29,635,380 (GRCm39) |
nonsense |
probably null |
|
|
R7940:Zfp74
|
UTSW |
7 |
29,631,867 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8676:Zfp74
|
UTSW |
7 |
29,634,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8864:Zfp74
|
UTSW |
7 |
29,634,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8940:Zfp74
|
UTSW |
7 |
29,634,772 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R9748:Zfp74
|
UTSW |
7 |
29,634,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9764:Zfp74
|
UTSW |
7 |
29,631,845 (GRCm39) |
missense |
probably benign |
0.11 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTCCAGGGTCTGACTAAAGC -3'
(R):5'- GGTATTTCAGTGTCAGAACCGG -3'
Sequencing Primer
(F):5'- AGGGTCTGACTAAAGCCTTTTC -3'
(R):5'- GAACCACGAGGGATACTTCTTTGC -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation