Incidental Mutation 'R8016:Zfp936'
| ID |
617179 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp936
|
| Ensembl Gene |
ENSMUSG00000064194 |
| Gene Name |
zinc finger protein 936 |
| Synonyms |
EG435970, Gm9272, I1C0022H11Rik |
| MMRRC Submission |
067456-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.686)
|
| Stock # |
R8016 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
42763653-42841533 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42838848 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 105
(V105D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072829]
[ENSMUST00000200973]
[ENSMUST00000202535]
[ENSMUST00000205912]
|
| AlphaFold |
Q3ULA8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000072829
AA Change: V104D
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000072608
Gene: ENSMUSG00000064194
AA Change: V104D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
3 |
65 |
5.32e-19 |
SMART |
|
ZnF_C2H2
|
148 |
170 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
176 |
198 |
5.9e-3 |
SMART |
|
ZnF_C2H2
|
204 |
226 |
1.4e-4 |
SMART |
|
ZnF_C2H2
|
232 |
254 |
1.2e-3 |
SMART |
|
ZnF_C2H2
|
260 |
282 |
7.37e-4 |
SMART |
|
ZnF_C2H2
|
288 |
310 |
2.27e-4 |
SMART |
|
ZnF_C2H2
|
316 |
338 |
2.09e-3 |
SMART |
|
ZnF_C2H2
|
344 |
366 |
1.45e-2 |
SMART |
|
ZnF_C2H2
|
372 |
394 |
1.82e-3 |
SMART |
|
ZnF_C2H2
|
400 |
422 |
2.53e-2 |
SMART |
|
ZnF_C2H2
|
428 |
450 |
4.54e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200973
|
| SMART Domains |
Protein: ENSMUSP00000144191
Gene: ENSMUSG00000064194
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.4e-21 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202535
AA Change: V105D
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143800
Gene: ENSMUSG00000064194
AA Change: V105D
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
2.3e-21 |
SMART |
|
ZnF_C2H2
|
149 |
171 |
2.6e-5 |
SMART |
|
ZnF_C2H2
|
177 |
199 |
2.5e-5 |
SMART |
|
ZnF_C2H2
|
205 |
227 |
5.9e-7 |
SMART |
|
ZnF_C2H2
|
233 |
255 |
5.1e-6 |
SMART |
|
ZnF_C2H2
|
261 |
283 |
3.1e-6 |
SMART |
|
ZnF_C2H2
|
289 |
311 |
9.4e-7 |
SMART |
|
ZnF_C2H2
|
317 |
339 |
8.7e-6 |
SMART |
|
ZnF_C2H2
|
345 |
367 |
6.3e-5 |
SMART |
|
ZnF_C2H2
|
373 |
395 |
7.7e-6 |
SMART |
|
ZnF_C2H2
|
401 |
423 |
1.1e-4 |
SMART |
|
ZnF_C2H2
|
429 |
451 |
2e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000205912
AA Change: V105D
PolyPhen 2
Score 0.607 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (41/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca3 |
T |
A |
17: 24,583,926 (GRCm39) |
M105K |
probably benign |
Het |
| Acer2 |
T |
C |
4: 86,804,443 (GRCm39) |
F53L |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,252,668 (GRCm39) |
V307A |
probably benign |
Het |
| Afmid |
A |
G |
11: 117,726,370 (GRCm39) |
I193V |
probably benign |
Het |
| Ahdc1 |
C |
T |
4: 132,790,226 (GRCm39) |
T489M |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Bag6 |
T |
A |
17: 35,357,733 (GRCm39) |
V133D |
unknown |
Het |
| Btla |
T |
C |
16: 45,070,950 (GRCm39) |
V304A |
probably damaging |
Het |
| Cacna1g |
A |
T |
11: 94,334,007 (GRCm39) |
I878N |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,450,784 (GRCm39) |
I398N |
possibly damaging |
Het |
| Clcnka |
A |
T |
4: 141,117,463 (GRCm39) |
S445T |
possibly damaging |
Het |
| Col6a6 |
A |
G |
9: 105,644,727 (GRCm39) |
V1187A |
possibly damaging |
Het |
| Col7a1 |
T |
C |
9: 108,787,712 (GRCm39) |
V664A |
unknown |
Het |
| Crb2 |
C |
A |
2: 37,676,568 (GRCm39) |
A183E |
possibly damaging |
Het |
| Cyp2j5 |
C |
T |
4: 96,546,951 (GRCm39) |
V188I |
probably damaging |
Het |
| D430041D05Rik |
A |
T |
2: 104,022,864 (GRCm39) |
N1043K |
probably damaging |
Het |
| Dnah14 |
G |
A |
1: 181,475,876 (GRCm39) |
R1376H |
probably benign |
Het |
| Foxj1 |
A |
G |
11: 116,222,675 (GRCm39) |
F376S |
probably damaging |
Het |
| Hsd17b11 |
A |
T |
5: 104,169,526 (GRCm39) |
I27N |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,657,251 (GRCm39) |
V528A |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,139,329 (GRCm39) |
V283A |
probably benign |
Het |
| Nup54 |
G |
A |
5: 92,582,176 (GRCm39) |
T45I |
unknown |
Het |
| Or4c100 |
G |
A |
2: 88,356,517 (GRCm39) |
V197I |
probably damaging |
Het |
| Or7g16 |
T |
C |
9: 18,727,588 (GRCm39) |
M1V |
probably null |
Het |
| Pbld2 |
T |
C |
10: 62,883,744 (GRCm39) |
F70L |
probably damaging |
Het |
| Pdzph1 |
A |
G |
17: 59,239,476 (GRCm39) |
S951P |
probably damaging |
Het |
| Peg10 |
T |
TCCA |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Prss1l |
A |
T |
6: 41,374,100 (GRCm39) |
Y234F |
probably damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,118,314 (GRCm39) |
C558* |
probably null |
Het |
| Slc12a6 |
A |
T |
2: 112,186,899 (GRCm39) |
H966L |
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,297,740 (GRCm39) |
V176D |
probably damaging |
Het |
| St6galnac3 |
G |
T |
3: 152,911,129 (GRCm39) |
H277Q |
probably damaging |
Het |
| Syde2 |
T |
A |
3: 145,707,727 (GRCm39) |
D822E |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 75,989,681 (GRCm39) |
E1853D |
probably benign |
Het |
| Tigd4 |
T |
C |
3: 84,501,971 (GRCm39) |
V296A |
possibly damaging |
Het |
| Tmed4 |
A |
T |
11: 6,224,242 (GRCm39) |
|
probably benign |
Het |
| Trmt6 |
A |
T |
2: 132,651,826 (GRCm39) |
I198N |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,195,201 (GRCm39) |
S1117P |
possibly damaging |
Het |
| Wasl |
A |
T |
6: 24,634,594 (GRCm39) |
Y103N |
probably damaging |
Het |
| Zfp628 |
A |
G |
7: 4,922,228 (GRCm39) |
D150G |
probably damaging |
Het |
|
| Other mutations in Zfp936 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02231:Zfp936
|
APN |
7 |
42,836,909 (GRCm39) |
splice site |
probably null |
|
|
IGL02245:Zfp936
|
APN |
7 |
42,836,722 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02335:Zfp936
|
APN |
7 |
42,836,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4340:Zfp936
|
UTSW |
7 |
42,838,913 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0437:Zfp936
|
UTSW |
7 |
42,838,734 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3899:Zfp936
|
UTSW |
7 |
42,839,158 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4120:Zfp936
|
UTSW |
7 |
42,839,630 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4406:Zfp936
|
UTSW |
7 |
42,839,748 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4959:Zfp936
|
UTSW |
7 |
42,839,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5023:Zfp936
|
UTSW |
7 |
42,836,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5163:Zfp936
|
UTSW |
7 |
42,839,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5182:Zfp936
|
UTSW |
7 |
42,839,331 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5292:Zfp936
|
UTSW |
7 |
42,838,759 (GRCm39) |
nonsense |
probably null |
|
|
R5668:Zfp936
|
UTSW |
7 |
42,839,858 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6057:Zfp936
|
UTSW |
7 |
42,839,787 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6901:Zfp936
|
UTSW |
7 |
42,839,467 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Zfp936
|
UTSW |
7 |
42,839,715 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R7258:Zfp936
|
UTSW |
7 |
42,839,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7440:Zfp936
|
UTSW |
7 |
42,836,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7537:Zfp936
|
UTSW |
7 |
42,839,239 (GRCm39) |
nonsense |
probably null |
|
|
R7561:Zfp936
|
UTSW |
7 |
42,839,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7662:Zfp936
|
UTSW |
7 |
42,839,336 (GRCm39) |
nonsense |
probably null |
|
|
R7775:Zfp936
|
UTSW |
7 |
42,839,720 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R7778:Zfp936
|
UTSW |
7 |
42,839,720 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8121:Zfp936
|
UTSW |
7 |
42,839,547 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9012:Zfp936
|
UTSW |
7 |
42,839,416 (GRCm39) |
nonsense |
probably null |
|
|
R9058:Zfp936
|
UTSW |
7 |
42,839,196 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9188:Zfp936
|
UTSW |
7 |
42,839,768 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9236:Zfp936
|
UTSW |
7 |
42,836,922 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9596:Zfp936
|
UTSW |
7 |
42,839,834 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCTCTCTAGTCCCTTGATAAAAC -3'
(R):5'- TGTGTAAAGGCTTTACCACATTG -3'
Sequencing Primer
(F):5'- TCTAGTCCCTTGATAAAACCCTAAG -3'
(R):5'- ACATTGGTAAGGTTTCTCTCCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation