Incidental Mutation 'R6330:Zfp74'
ID |
510856 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp74
|
Ensembl Gene |
ENSMUSG00000059975 |
Gene Name |
zinc finger protein 74 |
Synonyms |
KRAB8, 2810054M15Rik, Zfp66 |
MMRRC Submission |
044484-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R6330 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
29632086-29653579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 29637412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Asparagine
at position 33
(Y33N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103847
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032797]
[ENSMUST00000108205]
[ENSMUST00000108211]
[ENSMUST00000108212]
|
AlphaFold |
Q80W31 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032797
AA Change: Y33N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032797 Gene: ENSMUSG00000059975 AA Change: Y33N
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 damaging
Transcript: ENSMUST00000108205
AA Change: Y33N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103840 Gene: ENSMUSG00000059975 AA Change: Y33N
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 damaging
Transcript: ENSMUST00000108211
AA Change: Y33N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103846 Gene: ENSMUSG00000059975 AA Change: Y33N
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
5.02e-38 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000108212
AA Change: Y33N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000103847 Gene: ENSMUSG00000059975 AA Change: Y33N
Domain | Start | End | E-Value | Type |
KRAB
|
8 |
68 |
5.02e-38 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149793
|
Meta Mutation Damage Score |
0.8864 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
98% (46/47) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
T |
A |
16: 88,423,939 (GRCm39) |
H184L |
probably benign |
Het |
Ccar1 |
A |
G |
10: 62,600,312 (GRCm39) |
Y540H |
probably damaging |
Het |
Celf2 |
A |
G |
2: 6,889,766 (GRCm39) |
F2L |
probably benign |
Het |
Cfap57 |
T |
C |
4: 118,426,593 (GRCm39) |
I1119V |
probably benign |
Het |
Clec4f |
T |
C |
6: 83,629,850 (GRCm39) |
Q236R |
probably damaging |
Het |
Cstdc2 |
G |
T |
2: 148,692,745 (GRCm39) |
A19D |
probably damaging |
Het |
Cyp4a31 |
C |
T |
4: 115,421,074 (GRCm39) |
P54L |
probably damaging |
Het |
Dapk1 |
T |
C |
13: 60,909,140 (GRCm39) |
V1251A |
probably benign |
Het |
Dnah7b |
G |
A |
1: 46,379,335 (GRCm39) |
V3690M |
probably damaging |
Het |
Dock9 |
A |
T |
14: 121,842,655 (GRCm39) |
M1K |
probably null |
Het |
Emb |
T |
G |
13: 117,385,666 (GRCm39) |
|
probably null |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
F7 |
C |
T |
8: 13,085,140 (GRCm39) |
H389Y |
probably damaging |
Het |
Fam111a |
T |
A |
19: 12,564,266 (GRCm39) |
I49K |
probably damaging |
Het |
Fam50b |
T |
G |
13: 34,930,652 (GRCm39) |
S43A |
probably benign |
Het |
Gbp7 |
A |
T |
3: 142,252,259 (GRCm39) |
Y614F |
probably benign |
Het |
Gli3 |
T |
A |
13: 15,899,317 (GRCm39) |
D901E |
probably damaging |
Het |
Hhatl |
C |
T |
9: 121,617,291 (GRCm39) |
|
probably null |
Het |
Idua |
T |
A |
5: 108,829,574 (GRCm39) |
L432H |
probably benign |
Het |
Ighv10-3 |
T |
A |
12: 114,487,086 (GRCm39) |
T112S |
possibly damaging |
Het |
Kcnj6 |
T |
A |
16: 94,563,460 (GRCm39) |
D346V |
possibly damaging |
Het |
Lrba |
A |
G |
3: 86,255,664 (GRCm39) |
D1002G |
probably benign |
Het |
Lrrd1 |
T |
A |
5: 3,900,629 (GRCm39) |
S311R |
probably damaging |
Het |
Mafk |
A |
G |
5: 139,784,948 (GRCm39) |
N4S |
probably benign |
Het |
Mfsd14b |
T |
C |
13: 65,243,500 (GRCm39) |
Y48C |
probably damaging |
Het |
Mindy3 |
C |
T |
2: 12,361,744 (GRCm39) |
A333T |
probably damaging |
Het |
Mlxip |
G |
A |
5: 123,533,015 (GRCm39) |
C8Y |
probably benign |
Het |
Mthfd1l |
A |
T |
10: 3,930,234 (GRCm39) |
M110L |
probably benign |
Het |
Myo5b |
G |
A |
18: 74,750,064 (GRCm39) |
A176T |
probably damaging |
Het |
Or14j7 |
T |
C |
17: 38,234,685 (GRCm39) |
V76A |
possibly damaging |
Het |
Or1af1 |
A |
T |
2: 37,110,136 (GRCm39) |
I212F |
probably benign |
Het |
Orc2 |
C |
A |
1: 58,539,493 (GRCm39) |
V49L |
probably benign |
Het |
Pfkp |
C |
T |
13: 6,635,286 (GRCm39) |
|
probably benign |
Het |
Pkd1l3 |
T |
C |
8: 110,373,541 (GRCm39) |
F1359S |
probably benign |
Het |
Ralgps1 |
A |
T |
2: 33,064,455 (GRCm39) |
I222N |
probably damaging |
Het |
Rrad |
T |
G |
8: 105,356,492 (GRCm39) |
E136A |
probably benign |
Het |
Serpine3 |
T |
C |
14: 62,902,430 (GRCm39) |
S14P |
probably benign |
Het |
Slc2a12 |
A |
G |
10: 22,540,894 (GRCm39) |
T250A |
probably benign |
Het |
Slc4a5 |
T |
G |
6: 83,203,356 (GRCm39) |
F85L |
probably benign |
Het |
Stx18 |
T |
A |
5: 38,284,261 (GRCm39) |
|
probably null |
Het |
Tbcd |
T |
C |
11: 121,387,912 (GRCm39) |
S348P |
probably benign |
Het |
Usp9y |
T |
C |
Y: 1,340,123 (GRCm39) |
T1419A |
probably benign |
Homo |
Vmn2r69 |
T |
C |
7: 85,060,835 (GRCm39) |
S250G |
probably benign |
Het |
Vmn2r86 |
A |
G |
10: 130,282,396 (GRCm39) |
V740A |
probably benign |
Het |
Vwa5b2 |
T |
A |
16: 20,420,727 (GRCm39) |
I846N |
probably damaging |
Het |
Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly 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 |
R6287:Zfp74
|
UTSW |
7 |
29,635,201 (GRCm39) |
missense |
probably benign |
|
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'- AACTTCTGAGAATGTTGTACCCTG -3'
(R):5'- TGTTTAGAAAATGGGCAGTGC -3'
Sequencing Primer
(F):5'- GAATGTTGTACCCTGGAATGCCAC -3'
(R):5'- AGAAAATGGGCAGTGCTTTTTG -3'
|
Posted On |
2018-04-02 |