Incidental Mutation 'R7087:Zfp354c'
ID |
549967 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zfp354c
|
Ensembl Gene |
ENSMUSG00000044807 |
Gene Name |
zinc finger protein 354C |
Synonyms |
5330421P20Rik, Kid3, AJ18 |
MMRRC Submission |
045181-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.073)
|
Stock # |
R7087 (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 50706040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 345
(L345P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000000632
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000632]
[ENSMUST00000109135]
|
AlphaFold |
Q571J5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000000632
AA Change: L345P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000000632 Gene: ENSMUSG00000044807 AA Change: L345P
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: L345P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000104763 Gene: ENSMUSG00000044807 AA Change: L345P
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 |
|
Meta Mutation Damage Score |
0.7658 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
98% (43/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm3 |
T |
A |
7: 119,373,870 (GRCm39) |
V252D |
probably damaging |
Het |
Adprhl1 |
A |
G |
8: 13,271,856 (GRCm39) |
L1634P |
probably damaging |
Het |
Arhgef4 |
A |
T |
1: 34,850,767 (GRCm39) |
R438W |
probably damaging |
Het |
Asb3 |
A |
C |
11: 30,948,321 (GRCm39) |
K38T |
probably benign |
Het |
Atp1a4 |
A |
T |
1: 172,074,269 (GRCm39) |
L328Q |
probably damaging |
Het |
BC030500 |
T |
A |
8: 59,365,388 (GRCm39) |
I13N |
unknown |
Het |
Cbarp |
A |
G |
10: 79,972,242 (GRCm39) |
S136P |
probably damaging |
Het |
Ccdc18 |
T |
A |
5: 108,343,988 (GRCm39) |
D910E |
probably benign |
Het |
Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
Cmya5 |
A |
G |
13: 93,227,483 (GRCm39) |
V2535A |
probably benign |
Het |
Ddx39b |
C |
T |
17: 35,472,025 (GRCm39) |
R355C |
probably damaging |
Het |
Dock10 |
T |
C |
1: 80,570,543 (GRCm39) |
T338A |
probably benign |
Het |
Dpysl3 |
T |
C |
18: 43,496,595 (GRCm39) |
D147G |
probably damaging |
Het |
Eif3i |
G |
T |
4: 129,486,104 (GRCm39) |
H284Q |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,779,650 (GRCm39) |
L42Q |
probably null |
Het |
Exoc3l2 |
A |
G |
7: 19,203,582 (GRCm39) |
E58G |
|
Het |
Fgf18 |
C |
T |
11: 33,074,677 (GRCm39) |
R98Q |
probably damaging |
Het |
Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
Gp2 |
T |
A |
7: 119,049,455 (GRCm39) |
T361S |
probably damaging |
Het |
Gtsf1 |
A |
T |
15: 103,333,876 (GRCm39) |
H33Q |
probably damaging |
Het |
Hoxa4 |
G |
A |
6: 52,168,271 (GRCm39) |
T133M |
probably damaging |
Het |
Hspb7 |
C |
A |
4: 141,149,866 (GRCm39) |
T84K |
possibly damaging |
Het |
Kcnq4 |
C |
T |
4: 120,561,596 (GRCm39) |
R491H |
probably damaging |
Het |
Kdm7a |
C |
T |
6: 39,152,315 (GRCm39) |
R127H |
probably benign |
Het |
Lsm10 |
C |
T |
4: 125,991,952 (GRCm39) |
R103C |
probably damaging |
Het |
Mgme1 |
T |
C |
2: 144,114,101 (GRCm39) |
S68P |
probably damaging |
Het |
Nes |
G |
T |
3: 87,887,065 (GRCm39) |
V1775L |
probably benign |
Het |
Nfrkb |
C |
T |
9: 31,331,228 (GRCm39) |
Q1250* |
probably null |
Het |
Or4s2 |
T |
C |
2: 88,473,197 (GRCm39) |
F29L |
probably damaging |
Het |
Phf21b |
A |
T |
15: 84,676,033 (GRCm39) |
L338H |
probably damaging |
Het |
Pira12 |
G |
A |
7: 3,900,218 (GRCm39) |
A128V |
probably benign |
Het |
Ppp2r5b |
A |
G |
19: 6,282,580 (GRCm39) |
V190A |
possibly damaging |
Het |
Prmt1 |
T |
C |
7: 44,631,007 (GRCm39) |
|
probably null |
Het |
Rusc1 |
A |
G |
3: 88,996,799 (GRCm39) |
V639A |
probably damaging |
Het |
Slc24a2 |
T |
A |
4: 86,909,456 (GRCm39) |
|
probably null |
Het |
Slc39a10 |
T |
C |
1: 46,874,880 (GRCm39) |
T141A |
probably damaging |
Het |
Spta1 |
A |
T |
1: 174,002,076 (GRCm39) |
M69L |
probably benign |
Het |
St8sia5 |
A |
C |
18: 77,342,238 (GRCm39) |
Q316P |
possibly damaging |
Het |
Svs3a |
T |
C |
2: 164,131,717 (GRCm39) |
I96T |
possibly damaging |
Het |
Syne1 |
T |
A |
10: 5,492,024 (GRCm39) |
|
probably benign |
Het |
Trappc3 |
T |
C |
4: 126,166,474 (GRCm39) |
S16P |
probably benign |
Het |
Vmn2r44 |
A |
T |
7: 8,381,366 (GRCm39) |
F176I |
probably benign |
Het |
Wnk1 |
C |
T |
6: 120,014,491 (GRCm39) |
E35K |
possibly damaging |
Het |
Zfp608 |
T |
A |
18: 55,032,469 (GRCm39) |
K490N |
probably damaging |
Het |
Zfp687 |
A |
C |
3: 94,917,524 (GRCm39) |
S709A |
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 |
|
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 |
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 |
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'- TCGATAAGGGTAGACACACGTG -3'
(R):5'- CACTTCAGAGAAAGATTTACCACAG -3'
Sequencing Primer
(F):5'- GTAGACACACGTGTAAAGGTTCTCC -3'
(R):5'- TCTTCTAGAGCACAAGAGGCTTC -3'
|
Posted On |
2019-05-15 |