Incidental Mutation 'R8864:Zfp74'
| ID |
675812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp74
|
| Ensembl Gene |
ENSMUSG00000059975 |
| Gene Name |
zinc finger protein 74 |
| Synonyms |
KRAB8, 2810054M15Rik, Zfp66 |
| MMRRC Submission |
068680-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R8864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29632086-29653579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29634235 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 491
(E491G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103840
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032797]
[ENSMUST00000108205]
[ENSMUST00000108211]
[ENSMUST00000108212]
|
| AlphaFold |
Q80W31 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032797
AA Change: E491G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032797
Gene: ENSMUSG00000059975
AA Change: E491G
| 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: E491G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103840
Gene: ENSMUSG00000059975
AA Change: E491G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (41/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,023,497 (GRCm39) |
C297* |
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,854,981 (GRCm39) |
|
probably benign |
Het |
| Best2 |
T |
A |
8: 85,735,942 (GRCm39) |
M331L |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,852,026 (GRCm39) |
S1207R |
probably damaging |
Het |
| Cacna2d3 |
G |
T |
14: 29,055,735 (GRCm39) |
N298K |
probably damaging |
Het |
| Cyp2j12 |
T |
C |
4: 96,009,750 (GRCm39) |
Y203C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,981,616 (GRCm39) |
I3046T |
possibly damaging |
Het |
| Eif3b |
T |
C |
5: 140,412,287 (GRCm39) |
V252A |
probably benign |
Het |
| Ergic2 |
A |
G |
6: 148,083,393 (GRCm39) |
V355A |
probably benign |
Het |
| F13a1 |
C |
T |
13: 37,061,753 (GRCm39) |
G670D |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,031,605 (GRCm39) |
D82E |
probably benign |
Het |
| Ggnbp2 |
G |
A |
11: 84,730,902 (GRCm39) |
R376C |
probably damaging |
Het |
| Grn |
T |
C |
11: 102,327,211 (GRCm39) |
F191L |
unknown |
Het |
| Ighv1-16 |
C |
T |
12: 114,629,619 (GRCm39) |
G56D |
probably benign |
Het |
| Jrkl |
T |
C |
9: 13,244,326 (GRCm39) |
D445G |
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,012,739 (GRCm39) |
T93A |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,002,718 (GRCm39) |
A2094T |
|
Het |
| Lrriq3 |
T |
A |
3: 154,893,575 (GRCm39) |
D425E |
probably damaging |
Het |
| Majin |
T |
C |
19: 6,261,650 (GRCm39) |
V55A |
possibly damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,118,492 (GRCm39) |
V1192E |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,150,295 (GRCm39) |
S106G |
unknown |
Het |
| Mtch2 |
C |
T |
2: 90,685,274 (GRCm39) |
R135* |
probably null |
Het |
| Naip1 |
T |
C |
13: 100,562,828 (GRCm39) |
N779S |
possibly damaging |
Het |
| Nfia |
T |
C |
4: 97,951,382 (GRCm39) |
V403A |
possibly damaging |
Het |
| Npas4 |
C |
A |
19: 5,038,556 (GRCm39) |
D121Y |
probably damaging |
Het |
| Rab3gap1 |
C |
T |
1: 127,837,630 (GRCm39) |
R231W |
probably damaging |
Het |
| Rangap1 |
C |
G |
15: 81,610,270 (GRCm39) |
|
probably benign |
Het |
| Rgs5 |
T |
A |
1: 169,517,990 (GRCm39) |
F75I |
probably benign |
Het |
| Rnf19a |
T |
C |
15: 36,265,452 (GRCm39) |
D215G |
possibly damaging |
Het |
| Rwdd4a |
A |
T |
8: 48,000,876 (GRCm39) |
|
probably benign |
Het |
| Setd5 |
G |
A |
6: 113,088,469 (GRCm39) |
R199H |
probably damaging |
Het |
| Spata31e1 |
T |
C |
13: 49,940,988 (GRCm39) |
N241D |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,599,833 (GRCm39) |
Q2004R |
unknown |
Het |
| Syne1 |
T |
C |
10: 5,370,473 (GRCm39) |
K236E |
probably benign |
Het |
| Tas2r104 |
A |
G |
6: 131,662,632 (GRCm39) |
F26L |
possibly damaging |
Het |
| Tbc1d32 |
T |
A |
10: 55,963,655 (GRCm39) |
E954D |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,918,022 (GRCm39) |
S1914A |
possibly damaging |
Het |
| Tln2 |
G |
T |
9: 67,237,834 (GRCm39) |
Y32* |
probably null |
Het |
| Tnc |
C |
T |
4: 63,911,296 (GRCm39) |
R1425H |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,174,724 (GRCm39) |
C1851R |
unknown |
Het |
| Wapl |
T |
A |
14: 34,414,159 (GRCm39) |
D340E |
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 |
|
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 |
|
|
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 |
|
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'- TAAGTTGAGTAGTGAGCACTGG -3'
(R):5'- AAGGCCTTCTCTCAGAGCTC -3'
Sequencing Primer
(F):5'- GGAGAAGGCCTTCCCACACTTC -3'
(R):5'- TACTCGAGAGAAACCTTACGGATGC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation