Incidental Mutation 'R7619:Zfp354c'
| ID |
589064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp354c
|
| Ensembl Gene |
ENSMUSG00000044807 |
| Gene Name |
zinc finger protein 354C |
| Synonyms |
5330421P20Rik, Kid3, AJ18 |
| MMRRC Submission |
045686-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.073)
|
| Stock # |
R7619 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
50701913-50718551 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (1 bp from exon) |
| DNA Base Change (assembly) |
C to T
at 50708635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000000632
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000632]
[ENSMUST00000000632]
[ENSMUST00000109135]
[ENSMUST00000109135]
|
| AlphaFold |
Q571J5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000000632
|
| SMART Domains |
Protein: ENSMUSP00000000632
Gene: ENSMUSG00000044807
| 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 null
Transcript: ENSMUST00000000632
|
| SMART Domains |
Protein: ENSMUSP00000000632
Gene: ENSMUSG00000044807
| 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 null
Transcript: ENSMUST00000109135
|
| SMART Domains |
Protein: ENSMUSP00000104763
Gene: ENSMUSG00000044807
| 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 null
Transcript: ENSMUST00000109135
|
| SMART Domains |
Protein: ENSMUSP00000104763
Gene: ENSMUSG00000044807
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
96% (50/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
C |
G |
16: 14,263,283 (GRCm39) |
P748A |
probably damaging |
Het |
| Abcc12 |
A |
G |
8: 87,293,182 (GRCm39) |
V2A |
probably damaging |
Het |
| Anxa3 |
T |
C |
5: 96,978,263 (GRCm39) |
Y216H |
probably damaging |
Het |
| Arpc1a |
C |
A |
5: 145,041,668 (GRCm39) |
T317K |
probably benign |
Het |
| C330018D20Rik |
A |
G |
18: 57,095,483 (GRCm39) |
L34S |
probably damaging |
Het |
| C5ar1 |
A |
G |
7: 15,982,504 (GRCm39) |
F172S |
probably damaging |
Het |
| Ccl27a |
G |
A |
4: 41,774,166 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,752,342 (GRCm39) |
N480D |
|
Het |
| Cttnbp2nl |
A |
G |
3: 104,912,076 (GRCm39) |
S603P |
possibly damaging |
Het |
| Dmc1 |
A |
T |
15: 79,480,443 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,323,475 (GRCm39) |
I626V |
probably benign |
Het |
| Dnm2 |
A |
G |
9: 21,416,930 (GRCm39) |
N821S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,238,509 (GRCm39) |
L1723S |
probably benign |
Het |
| Ep300 |
T |
A |
15: 81,492,399 (GRCm39) |
M245K |
unknown |
Het |
| Fam227a |
T |
C |
15: 79,501,967 (GRCm39) |
T536A |
probably benign |
Het |
| Fbn2 |
G |
T |
18: 58,213,299 (GRCm39) |
R963S |
possibly damaging |
Het |
| Fbxo42 |
T |
G |
4: 140,927,673 (GRCm39) |
I651S |
possibly damaging |
Het |
| Ggnbp1 |
T |
A |
17: 27,237,105 (GRCm39) |
M1K |
probably null |
Het |
| Gm10800 |
AAAGAAAACTGAA |
ACAAGAAAACTGAA |
2: 98,497,378 (GRCm39) |
|
probably null |
Het |
| Grid2 |
T |
C |
6: 63,908,085 (GRCm39) |
F242L |
possibly damaging |
Het |
| Igf2r |
A |
G |
17: 12,917,160 (GRCm39) |
V1580A |
possibly damaging |
Het |
| Marchf4 |
A |
G |
1: 72,574,148 (GRCm39) |
V50A |
possibly damaging |
Het |
| Mettl15 |
T |
A |
2: 108,923,220 (GRCm39) |
R401* |
probably null |
Het |
| Mki67 |
A |
T |
7: 135,301,106 (GRCm39) |
H1309Q |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,547,252 (GRCm39) |
Y412H |
probably damaging |
Het |
| Myef2 |
C |
T |
2: 124,965,396 (GRCm39) |
G15S |
probably benign |
Het |
| Napepld |
A |
T |
5: 21,880,846 (GRCm39) |
I183N |
probably damaging |
Het |
| Nbeal2 |
T |
C |
9: 110,454,886 (GRCm39) |
E2644G |
probably benign |
Het |
| Neb |
C |
T |
2: 52,186,438 (GRCm39) |
R878Q |
possibly damaging |
Het |
| Or52l1 |
A |
G |
7: 104,829,956 (GRCm39) |
V203A |
probably damaging |
Het |
| Otol1 |
A |
T |
3: 69,935,202 (GRCm39) |
H398L |
probably damaging |
Het |
| Pcdhga9 |
A |
G |
18: 37,871,805 (GRCm39) |
S545G |
probably damaging |
Het |
| Pramel19 |
T |
G |
4: 101,798,497 (GRCm39) |
F156C |
probably benign |
Het |
| Rhbdl1 |
T |
C |
17: 26,055,991 (GRCm39) |
S4G |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,557,175 (GRCm39) |
E420G |
probably benign |
Het |
| Sap30l |
G |
A |
11: 57,698,887 (GRCm39) |
R120H |
probably damaging |
Het |
| Scn2a |
T |
C |
2: 65,546,247 (GRCm39) |
F937L |
probably damaging |
Het |
| Sdf2 |
G |
A |
11: 78,141,989 (GRCm39) |
G108D |
probably damaging |
Het |
| Skint5 |
T |
C |
4: 113,381,305 (GRCm39) |
S1263G |
unknown |
Het |
| Stab1 |
A |
G |
14: 30,867,194 (GRCm39) |
I1722T |
probably benign |
Het |
| Syn3 |
A |
G |
10: 85,893,428 (GRCm39) |
S472P |
unknown |
Het |
| Tcp11l2 |
T |
C |
10: 84,430,622 (GRCm39) |
F249S |
probably damaging |
Het |
| Thoc7 |
T |
A |
14: 13,961,819 (GRCm38) |
|
probably null |
Het |
| Tvp23a |
C |
A |
16: 10,246,602 (GRCm39) |
C61F |
probably damaging |
Het |
| Ubfd1 |
G |
A |
7: 121,666,606 (GRCm39) |
G34D |
probably benign |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,967 (GRCm39) |
T107S |
probably damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,692,457 (GRCm39) |
K133I |
probably benign |
Het |
| Vmn2r15 |
A |
T |
5: 109,436,190 (GRCm39) |
|
probably null |
Het |
| Wdr25 |
G |
A |
12: 108,958,819 (GRCm39) |
G344S |
possibly damaging |
Het |
| Zfp560 |
G |
T |
9: 20,260,206 (GRCm39) |
Q219K |
probably benign |
Het |
| Zfp691 |
C |
T |
4: 119,028,181 (GRCm39) |
G17E |
probably damaging |
Het |
| Zfp930 |
T |
A |
8: 69,661,810 (GRCm39) |
M1K |
probably null |
Het |
| Zkscan14 |
A |
G |
5: 145,132,169 (GRCm39) |
F454S |
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 |
|
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 |
|
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'- GTACACAGACTGACGGTAGG -3'
(R):5'- TACCCGTTGTCTGGGGTAAG -3'
Sequencing Primer
(F):5'- CTTGCAACTCCACAGAGATTTG -3'
(R):5'- GTAAGCAGGAATGGGTTTGC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation