Incidental Mutation 'R6591:Zfp354c'
| ID |
524594 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp354c
|
| Ensembl Gene |
ENSMUSG00000044807 |
| Gene Name |
zinc finger protein 354C |
| Synonyms |
5330421P20Rik, Kid3, AJ18 |
| MMRRC Submission |
044715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R6591 (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 50705602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 491
(I491T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104763
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000632]
[ENSMUST00000109135]
|
| AlphaFold |
Q571J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000000632
AA Change: I491T
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000000632
Gene: ENSMUSG00000044807
AA Change: I491T
| 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 benign
Transcript: ENSMUST00000109135
AA Change: I491T
PolyPhen 2
Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000104763
Gene: ENSMUSG00000044807
AA Change: I491T
| 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 |
0.2680 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Rbm33 |
A |
T |
5: 28,557,544 (GRCm39) |
E252D |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
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 |
|
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'- ATTAAAGTTCTCAGGCTTGTCTCC -3'
(R):5'- ACACGTGTGTCTACCCTTATCG -3'
Sequencing Primer
(F):5'- AGGCTTGTCTCCTTTCAGAAATTTC -3'
(R):5'- GTGGGAAGACTTTCAACCAGTATTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation