Incidental Mutation 'R6287:Zfp74'
ID |
508267 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp74
|
Ensembl Gene |
ENSMUSG00000059975 |
Gene Name |
zinc finger protein 74 |
Synonyms |
KRAB8, 2810054M15Rik, Zfp66 |
MMRRC Submission |
044457-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R6287 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
29632086-29653579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 29635201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 169
(T169I)
|
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: T169I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000032797 Gene: ENSMUSG00000059975 AA Change: T169I
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: T169I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000103840 Gene: ENSMUSG00000059975 AA Change: T169I
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
Validation Efficiency |
94% (34/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy7 |
A |
G |
8: 89,037,736 (GRCm39) |
N268S |
possibly damaging |
Het |
Ahnak |
T |
A |
19: 8,992,367 (GRCm39) |
H4550Q |
probably benign |
Het |
C330018D20Rik |
A |
C |
18: 57,095,407 (GRCm39) |
|
probably null |
Het |
Camta2 |
G |
C |
11: 70,572,295 (GRCm39) |
Q310E |
probably damaging |
Het |
Caskin1 |
A |
T |
17: 24,715,683 (GRCm39) |
K149M |
probably damaging |
Het |
Chml |
T |
C |
1: 175,514,569 (GRCm39) |
K108E |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,403,612 (GRCm39) |
L345P |
probably damaging |
Het |
Defb6 |
T |
A |
8: 19,278,085 (GRCm39) |
C52* |
probably null |
Het |
Flii |
A |
T |
11: 60,612,423 (GRCm39) |
I288N |
probably damaging |
Het |
Fmnl2 |
T |
C |
2: 52,904,860 (GRCm39) |
Y55H |
probably damaging |
Het |
Galk2 |
A |
T |
2: 125,712,268 (GRCm39) |
|
probably benign |
Het |
Ift140 |
T |
A |
17: 25,269,408 (GRCm39) |
C688S |
probably benign |
Het |
Lmln |
T |
C |
16: 32,894,555 (GRCm39) |
|
probably null |
Het |
Muc16 |
T |
C |
9: 18,570,330 (GRCm39) |
T730A |
unknown |
Het |
Nup88 |
T |
C |
11: 70,856,581 (GRCm39) |
E184G |
probably benign |
Het |
Omt2b |
T |
C |
9: 78,235,543 (GRCm39) |
F27L |
possibly damaging |
Het |
Or10g3 |
A |
T |
14: 52,609,748 (GRCm39) |
V254E |
probably damaging |
Het |
Or2a7 |
A |
G |
6: 43,151,369 (GRCm39) |
I150V |
probably benign |
Het |
Or2y13 |
A |
G |
11: 49,415,072 (GRCm39) |
N174S |
probably damaging |
Het |
Or4a15 |
G |
A |
2: 89,193,363 (GRCm39) |
R137* |
probably null |
Het |
Or6c69b |
T |
C |
10: 129,627,254 (GRCm39) |
E68G |
probably damaging |
Het |
Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
Pigf |
G |
A |
17: 87,304,967 (GRCm39) |
A192V |
probably damaging |
Het |
Pikfyve |
T |
C |
1: 65,292,691 (GRCm39) |
|
probably null |
Het |
Ppat |
A |
T |
5: 77,066,061 (GRCm39) |
Y352* |
probably null |
Het |
Rapgef6 |
T |
G |
11: 54,517,164 (GRCm39) |
|
probably null |
Het |
Rrp15 |
A |
T |
1: 186,481,373 (GRCm39) |
S45T |
probably benign |
Het |
Sap18 |
A |
G |
14: 58,035,771 (GRCm39) |
E30G |
probably damaging |
Het |
Snx6 |
G |
T |
12: 54,793,813 (GRCm39) |
A284E |
possibly damaging |
Het |
Tm4sf4 |
T |
A |
3: 57,333,112 (GRCm39) |
I26N |
probably damaging |
Het |
Traf5 |
A |
G |
1: 191,731,833 (GRCm39) |
L336P |
probably damaging |
Het |
Ttl |
G |
A |
2: 128,931,041 (GRCm39) |
A335T |
probably damaging |
Het |
Vmn2r87 |
C |
T |
10: 130,314,291 (GRCm39) |
|
probably null |
Het |
Zfp937 |
A |
T |
2: 150,080,261 (GRCm39) |
H97L |
possibly damaging |
Het |
Zzef1 |
G |
T |
11: 72,813,938 (GRCm39) |
E2842D |
probably damaging |
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 |
R5460:Zfp74
|
UTSW |
7 |
29,635,316 (GRCm39) |
missense |
probably benign |
0.04 |
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 |
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'- CCTCATATGCAGAGCAAGGG -3'
(R):5'- CGGAGGAATTTGCAAGTACG -3'
Sequencing Primer
(F):5'- AACTTTCTGATGTGCGACAAGGC -3'
(R):5'- GAGGAATTTGCAAGTACGTTTTTCCC -3'
|
Posted On |
2018-03-15 |