Incidental Mutation 'R6791:Zfp74'
| ID |
532583 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp74
|
| Ensembl Gene |
ENSMUSG00000059975 |
| Gene Name |
zinc finger protein 74 |
| Synonyms |
KRAB8, 2810054M15Rik, Zfp66 |
| MMRRC Submission |
044904-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.081)
|
| Stock # |
R6791 (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 G
at 29633860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 616
(I616T)
|
| 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: I616T
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000032797
Gene: ENSMUSG00000059975
AA Change: I616T
| 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: I616T
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103840
Gene: ENSMUSG00000059975
AA Change: I616T
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
100% (52/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,328,504 (GRCm39) |
C3526S |
probably damaging |
Het |
| Adgrf2 |
T |
C |
17: 43,021,774 (GRCm39) |
N350S |
probably benign |
Het |
| Atp12a |
G |
A |
14: 56,624,439 (GRCm39) |
|
probably null |
Het |
| AW551984 |
T |
G |
9: 39,511,955 (GRCm39) |
S19R |
probably damaging |
Het |
| Bet1l |
A |
G |
7: 140,434,418 (GRCm39) |
I77T |
possibly damaging |
Het |
| Cfap206 |
T |
C |
4: 34,711,414 (GRCm39) |
I494M |
possibly damaging |
Het |
| Cog3 |
A |
G |
14: 75,968,118 (GRCm39) |
I415T |
probably damaging |
Het |
| Col15a1 |
C |
T |
4: 47,300,518 (GRCm39) |
P1060S |
probably damaging |
Het |
| Ctrb1 |
A |
G |
8: 112,415,981 (GRCm39) |
V71A |
possibly damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,242,242 (GRCm39) |
Y211C |
probably benign |
Het |
| Fbxl20 |
T |
C |
11: 98,000,336 (GRCm39) |
T128A |
probably benign |
Het |
| Fdps |
A |
G |
3: 89,002,659 (GRCm39) |
|
probably null |
Het |
| Gm4302 |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
TGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCA |
10: 100,177,361 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
T |
A |
19: 11,489,200 (GRCm39) |
|
probably benign |
Het |
| Grm6 |
T |
C |
11: 50,750,601 (GRCm39) |
V588A |
possibly damaging |
Het |
| Heatr6 |
T |
C |
11: 83,649,167 (GRCm39) |
L174S |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,993,859 (GRCm39) |
P364S |
probably damaging |
Het |
| Klk7 |
A |
G |
7: 43,462,684 (GRCm39) |
D163G |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Lamb3 |
T |
C |
1: 193,017,169 (GRCm39) |
S787P |
possibly damaging |
Het |
| Lrp5 |
C |
T |
19: 3,650,753 (GRCm39) |
C1227Y |
probably damaging |
Het |
| Mgst1 |
G |
A |
6: 138,118,805 (GRCm39) |
|
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,571,428 (GRCm39) |
S1022P |
probably damaging |
Het |
| Mtmr2 |
T |
C |
9: 13,716,678 (GRCm39) |
I521T |
probably benign |
Het |
| Naalad2 |
T |
C |
9: 18,296,426 (GRCm39) |
T75A |
possibly damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,372,845 (GRCm39) |
I83N |
probably damaging |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Neurl4 |
T |
A |
11: 69,799,336 (GRCm39) |
L904Q |
probably damaging |
Het |
| Ngp |
A |
C |
9: 110,249,017 (GRCm39) |
I30L |
probably benign |
Het |
| Or5af1 |
T |
C |
11: 58,722,903 (GRCm39) |
Y308H |
probably benign |
Het |
| Or6c5c |
G |
A |
10: 129,299,023 (GRCm39) |
M159I |
probably benign |
Het |
| Orm2 |
A |
T |
4: 63,282,196 (GRCm39) |
M125L |
probably benign |
Het |
| Pax2 |
A |
T |
19: 44,777,260 (GRCm39) |
D151V |
possibly damaging |
Het |
| Polg |
A |
G |
7: 79,109,857 (GRCm39) |
V382A |
probably benign |
Het |
| Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,622,252 (GRCm39) |
I368F |
probably benign |
Het |
| Prss16 |
A |
T |
13: 22,190,237 (GRCm39) |
V307E |
probably damaging |
Het |
| Prss54 |
T |
G |
8: 96,291,283 (GRCm39) |
|
probably null |
Het |
| Rspo1 |
A |
G |
4: 124,900,976 (GRCm39) |
H108R |
probably benign |
Het |
| Sh3bp5l |
C |
A |
11: 58,237,098 (GRCm39) |
H352N |
probably damaging |
Het |
| Skor1 |
T |
C |
9: 63,047,636 (GRCm39) |
|
probably null |
Het |
| Smad6 |
A |
G |
9: 63,919,509 (GRCm39) |
Y289H |
probably benign |
Het |
| Spart |
G |
A |
3: 55,034,982 (GRCm39) |
G456D |
probably damaging |
Het |
| Spg11 |
T |
C |
2: 121,923,924 (GRCm39) |
E799G |
probably damaging |
Het |
| Tbc1d4 |
T |
G |
14: 101,845,695 (GRCm39) |
K68Q |
probably damaging |
Het |
| Treml2 |
A |
G |
17: 48,616,247 (GRCm39) |
M296V |
probably benign |
Het |
| Ugt2b1 |
C |
A |
5: 87,067,116 (GRCm39) |
D436Y |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,325,042 (GRCm39) |
|
probably null |
Homo |
| Vmn2r6 |
T |
C |
3: 64,445,580 (GRCm39) |
Y626C |
probably damaging |
Het |
| Xpc |
G |
A |
6: 91,483,839 (GRCm39) |
A169V |
probably benign |
Het |
| Zfp131 |
A |
G |
13: 120,228,129 (GRCm39) |
V506A |
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 |
|
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 |
|
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'- AGTCCTCACATTCACCGTGG -3'
(R):5'- GTGCTCACTACTCAACTTACACATG -3'
Sequencing Primer
(F):5'- TCACGGCGTCTCTAGTGAG -3'
(R):5'- TTACACATGAGAAGCCACACAGGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation