Incidental Mutation 'R4010:Zfp354c'
| ID |
311652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp354c
|
| Ensembl Gene |
ENSMUSG00000044807 |
| Gene Name |
zinc finger protein 354C |
| Synonyms |
5330421P20Rik, Kid3, AJ18 |
| MMRRC Submission |
040947-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R4010 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
50701913-50718551 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 50705771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 435
(I435F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000632]
[ENSMUST00000109135]
|
| AlphaFold |
Q571J5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000000632
AA Change: I435F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000000632
Gene: ENSMUSG00000044807
AA Change: I435F
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.98e-33 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
3.74e-5 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
3.39e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109135
AA Change: I435F
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000104763
Gene: ENSMUSG00000044807
AA Change: I435F
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
14 |
74 |
9.98e-33 |
SMART |
|
ZnF_C2H2
|
218 |
240 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
246 |
268 |
3.74e-5 |
SMART |
|
ZnF_C2H2
|
274 |
296 |
1.72e-4 |
SMART |
|
ZnF_C2H2
|
302 |
324 |
7.78e-3 |
SMART |
|
ZnF_C2H2
|
330 |
352 |
1.92e-2 |
SMART |
|
ZnF_C2H2
|
358 |
380 |
4.79e-3 |
SMART |
|
ZnF_C2H2
|
386 |
408 |
1.1e-2 |
SMART |
|
ZnF_C2H2
|
414 |
436 |
5.67e-5 |
SMART |
|
ZnF_C2H2
|
442 |
464 |
9.08e-4 |
SMART |
|
ZnF_C2H2
|
470 |
492 |
5.59e-4 |
SMART |
|
ZnF_C2H2
|
498 |
520 |
3.39e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139465
|
| Meta Mutation Damage Score |
0.1005 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.6%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
T |
C |
5: 88,120,136 (GRCm39) |
S298P |
probably damaging |
Het |
| Abca13 |
G |
A |
11: 9,572,013 (GRCm39) |
|
probably benign |
Het |
| Abcc2 |
A |
G |
19: 43,818,303 (GRCm39) |
N1263S |
possibly damaging |
Het |
| Acss2 |
T |
A |
2: 155,399,548 (GRCm39) |
L529Q |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,286,169 (GRCm39) |
T793A |
possibly damaging |
Het |
| Adsl |
T |
C |
15: 80,850,357 (GRCm39) |
S359P |
probably benign |
Het |
| Ddx60 |
A |
T |
8: 62,407,569 (GRCm39) |
D360V |
possibly damaging |
Het |
| Ddx60 |
A |
T |
8: 62,409,178 (GRCm39) |
M405L |
probably benign |
Het |
| Frmd6 |
A |
G |
12: 70,946,327 (GRCm39) |
N585S |
probably benign |
Het |
| Fxr1 |
G |
T |
3: 34,119,171 (GRCm39) |
R580L |
probably benign |
Het |
| Ggt7 |
G |
A |
2: 155,342,652 (GRCm39) |
T358M |
probably benign |
Het |
| Gm5435 |
G |
A |
12: 82,543,089 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5592 |
C |
T |
7: 40,936,052 (GRCm39) |
H185Y |
probably benign |
Het |
| Ifit2 |
G |
T |
19: 34,551,445 (GRCm39) |
M328I |
probably benign |
Het |
| Itgae |
T |
A |
11: 73,002,165 (GRCm39) |
C90S |
probably benign |
Het |
| Kif1a |
G |
A |
1: 92,950,131 (GRCm39) |
S1424F |
probably benign |
Het |
| Map2k2 |
T |
C |
10: 80,944,769 (GRCm39) |
S94P |
probably damaging |
Het |
| Marveld2 |
C |
A |
13: 100,747,936 (GRCm39) |
|
probably null |
Het |
| Or10a3m |
A |
T |
7: 108,313,366 (GRCm39) |
I269L |
probably benign |
Het |
| Pdcl |
T |
C |
2: 37,242,123 (GRCm39) |
Y209C |
probably damaging |
Het |
| Pde6c |
A |
G |
19: 38,157,884 (GRCm39) |
E636G |
probably damaging |
Het |
| Pggt1b |
A |
G |
18: 46,382,003 (GRCm39) |
Y260H |
possibly damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,392,496 (GRCm39) |
S1610R |
possibly damaging |
Het |
| Rel |
C |
T |
11: 23,711,138 (GRCm39) |
V10I |
probably benign |
Het |
| Rpa2 |
T |
A |
4: 132,497,960 (GRCm39) |
|
probably null |
Het |
| Rpain |
T |
G |
11: 70,863,833 (GRCm39) |
|
probably benign |
Het |
| Rpl35rt |
T |
C |
1: 156,193,724 (GRCm39) |
V26A |
probably benign |
Het |
| Ryr1 |
T |
C |
7: 28,794,549 (GRCm39) |
T1237A |
probably benign |
Het |
| Safb |
T |
C |
17: 56,910,765 (GRCm39) |
|
probably benign |
Het |
| Serpina3a |
A |
T |
12: 104,084,902 (GRCm39) |
D99V |
probably benign |
Het |
| Setd2 |
A |
G |
9: 110,428,263 (GRCm39) |
Q2320R |
probably null |
Het |
| Sh2d4a |
C |
T |
8: 68,787,799 (GRCm39) |
R302C |
probably damaging |
Het |
| Slc19a2 |
T |
G |
1: 164,088,451 (GRCm39) |
S300A |
probably damaging |
Het |
| Slc30a5 |
G |
A |
13: 100,945,741 (GRCm39) |
A537V |
probably damaging |
Het |
| Strip2 |
A |
G |
6: 29,955,584 (GRCm39) |
I717V |
possibly damaging |
Het |
| Supt16 |
A |
C |
14: 52,401,898 (GRCm39) |
F924C |
probably damaging |
Het |
| Tekt4 |
T |
G |
17: 25,695,460 (GRCm39) |
M431R |
probably damaging |
Het |
| Trim23 |
A |
G |
13: 104,317,526 (GRCm39) |
|
probably benign |
Het |
| Tspear |
T |
C |
10: 77,672,310 (GRCm39) |
|
probably benign |
Het |
| Usp39 |
C |
A |
6: 72,313,468 (GRCm39) |
A241S |
probably benign |
Het |
| Vmn1r185 |
T |
A |
7: 26,311,450 (GRCm39) |
L18F |
possibly damaging |
Het |
| Zfp213 |
T |
C |
17: 23,777,064 (GRCm39) |
H326R |
possibly damaging |
Het |
| Zfp618 |
G |
A |
4: 63,051,801 (GRCm39) |
A861T |
probably benign |
Het |
|
| Other mutations in Zfp354c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00923:Zfp354c
|
APN |
11 |
50,706,440 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01615:Zfp354c
|
APN |
11 |
50,708,732 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03019:Zfp354c
|
APN |
11 |
50,708,021 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0546:Zfp354c
|
UTSW |
11 |
50,706,457 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1370:Zfp354c
|
UTSW |
11 |
50,706,667 (GRCm39) |
missense |
probably benign |
|
|
R2109:Zfp354c
|
UTSW |
11 |
50,707,969 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2850:Zfp354c
|
UTSW |
11 |
50,706,158 (GRCm39) |
nonsense |
probably null |
|
|
R5034:Zfp354c
|
UTSW |
11 |
50,705,866 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5430:Zfp354c
|
UTSW |
11 |
50,706,022 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5439:Zfp354c
|
UTSW |
11 |
50,706,597 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5905:Zfp354c
|
UTSW |
11 |
50,706,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Zfp354c
|
UTSW |
11 |
50,705,798 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6264:Zfp354c
|
UTSW |
11 |
50,706,274 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6591:Zfp354c
|
UTSW |
11 |
50,705,602 (GRCm39) |
missense |
probably benign |
0.41 |
|
R6650:Zfp354c
|
UTSW |
11 |
50,705,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6691:Zfp354c
|
UTSW |
11 |
50,705,602 (GRCm39) |
missense |
probably benign |
0.41 |
|
R7087:Zfp354c
|
UTSW |
11 |
50,706,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7313:Zfp354c
|
UTSW |
11 |
50,705,483 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7467:Zfp354c
|
UTSW |
11 |
50,706,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7619:Zfp354c
|
UTSW |
11 |
50,708,635 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7699:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7710:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7712:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7747:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7748:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7784:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7816:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7817:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7853:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7855:Zfp354c
|
UTSW |
11 |
50,706,067 (GRCm39) |
small deletion |
probably benign |
|
|
R7870:Zfp354c
|
UTSW |
11 |
50,706,065 (GRCm39) |
small deletion |
probably benign |
|
|
R8852:Zfp354c
|
UTSW |
11 |
50,706,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8860:Zfp354c
|
UTSW |
11 |
50,706,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8862:Zfp354c
|
UTSW |
11 |
50,708,718 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9169:Zfp354c
|
UTSW |
11 |
50,706,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9215:Zfp354c
|
UTSW |
11 |
50,706,666 (GRCm39) |
missense |
probably benign |
0.31 |
|
R9273:Zfp354c
|
UTSW |
11 |
50,706,059 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9762:Zfp354c
|
UTSW |
11 |
50,706,239 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCCATAGATAAAGGGTGTC -3'
(R):5'- GCCTTCAGCCAGTGTTCCAC -3'
Sequencing Primer
(F):5'- ACTTGTAGAGCTTCTCTCCAGTATGG -3'
(R):5'- GTGACAAGGCCTTTAACTGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation