Incidental Mutation 'R6650:Zfp354c'
| ID |
527748 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp354c
|
| Ensembl Gene |
ENSMUSG00000044807 |
| Gene Name |
zinc finger protein 354C |
| Synonyms |
5330421P20Rik, Kid3, AJ18 |
| MMRRC Submission |
044771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R6650 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
50701913-50718551 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 50705518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 519
(V519A)
|
| 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: V519A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000000632
Gene: ENSMUSG00000044807
AA Change: V519A
| 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: V519A
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000104763
Gene: ENSMUSG00000044807
AA Change: V519A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157580
|
| Meta Mutation Damage Score |
0.3049 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (44/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl3 |
A |
G |
1: 78,659,639 (GRCm39) |
N97S |
probably benign |
Het |
| Aph1a |
T |
C |
3: 95,803,598 (GRCm39) |
V220A |
probably benign |
Het |
| Bin2 |
T |
A |
15: 100,567,301 (GRCm39) |
Q25L |
probably damaging |
Het |
| Ccdc102a |
T |
C |
8: 95,639,892 (GRCm39) |
E134G |
probably benign |
Het |
| Cdh6 |
A |
G |
15: 13,051,487 (GRCm39) |
V382A |
probably benign |
Het |
| Cep135 |
T |
A |
5: 76,781,548 (GRCm39) |
V845E |
possibly damaging |
Het |
| Cngb3 |
T |
C |
4: 19,364,168 (GRCm39) |
L124P |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,233,975 (GRCm39) |
N725S |
probably damaging |
Het |
| Dcn |
C |
A |
10: 97,343,605 (GRCm39) |
N188K |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Ercc3 |
C |
T |
18: 32,394,389 (GRCm39) |
R590C |
probably damaging |
Het |
| Fchsd1 |
A |
T |
18: 38,099,555 (GRCm39) |
L213* |
probably null |
Het |
| Fmod |
A |
G |
1: 133,968,745 (GRCm39) |
S262G |
probably benign |
Het |
| Gm45861 |
T |
C |
8: 27,995,043 (GRCm39) |
S530P |
unknown |
Het |
| Ifih1 |
T |
C |
2: 62,436,791 (GRCm39) |
D544G |
possibly damaging |
Het |
| Itpr1 |
A |
G |
6: 108,371,034 (GRCm39) |
|
probably null |
Het |
| Larp1 |
CA |
CAA |
11: 57,949,422 (GRCm39) |
|
probably null |
Het |
| Lbp |
T |
A |
2: 158,151,587 (GRCm39) |
S102R |
probably benign |
Het |
| Lepr |
C |
A |
4: 101,672,398 (GRCm39) |
Q1141K |
probably damaging |
Het |
| Mcm8 |
C |
A |
2: 132,663,327 (GRCm39) |
N148K |
probably benign |
Het |
| Mcpt4 |
T |
G |
14: 56,298,090 (GRCm39) |
T154P |
possibly damaging |
Het |
| Mrpl22 |
A |
G |
11: 58,066,134 (GRCm39) |
Y76C |
probably damaging |
Het |
| Msln |
T |
C |
17: 25,969,144 (GRCm39) |
I414V |
probably benign |
Het |
| Ncor1 |
G |
A |
11: 62,225,367 (GRCm39) |
T1798I |
probably damaging |
Het |
| Nlrp4c |
T |
A |
7: 6,068,948 (GRCm39) |
F283Y |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,935,953 (GRCm39) |
|
probably null |
Het |
| Pira12 |
T |
A |
7: 3,898,632 (GRCm39) |
Q272L |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,819,898 (GRCm39) |
H555L |
possibly damaging |
Het |
| Pja2 |
T |
C |
17: 64,599,936 (GRCm39) |
E516G |
probably damaging |
Het |
| Pofut1 |
T |
A |
2: 153,101,270 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
G |
T |
13: 27,569,249 (GRCm39) |
H116Q |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,230,422 (GRCm39) |
K1048E |
probably damaging |
Het |
| Scnn1b |
G |
A |
7: 121,502,043 (GRCm39) |
V234M |
probably damaging |
Het |
| Sfxn3 |
G |
A |
19: 45,038,354 (GRCm39) |
|
probably null |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,663 (GRCm39) |
G685D |
probably benign |
Het |
| Six4 |
C |
A |
12: 73,150,299 (GRCm39) |
G749C |
probably benign |
Het |
| Tnn |
G |
A |
1: 159,942,153 (GRCm39) |
T1115I |
probably damaging |
Het |
| Tpcn1 |
T |
A |
5: 120,675,627 (GRCm39) |
Q779L |
probably null |
Het |
| Ugt2a2 |
A |
G |
5: 87,622,459 (GRCm39) |
Y380H |
probably damaging |
Het |
| Xkr8 |
T |
C |
4: 132,455,249 (GRCm39) |
T375A |
probably benign |
Het |
| Zdhhc20 |
T |
A |
14: 58,096,032 (GRCm39) |
K135N |
probably damaging |
Het |
| Zfp235 |
T |
A |
7: 23,836,463 (GRCm39) |
|
probably null |
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 |
|
|
R4010:Zfp354c
|
UTSW |
11 |
50,705,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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'- CCACTGTCCATGACTAGTGG -3'
(R):5'- ACACGTGTGTCTACCCTTATCG -3'
Sequencing Primer
(F):5'- GTCCATGACTAGTGGTAACTATTTGC -3'
(R):5'- ACCTTTATCGGCATCAGAGG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation