Incidental Mutation 'R5163:Zfp936'
| ID |
397101 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp936
|
| Ensembl Gene |
ENSMUSG00000064194 |
| Gene Name |
zinc finger protein 936 |
| Synonyms |
EG435970, Gm9272, I1C0022H11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.670)
|
| Stock # |
R5163 (G1)
|
| Quality Score |
161 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
42763653-42841533 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42839664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 377
(Q377R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143800
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072829]
[ENSMUST00000200973]
[ENSMUST00000202535]
[ENSMUST00000205912]
|
| AlphaFold |
Q3ULA8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000072829
AA Change: Q376R
PolyPhen 2
Score 0.316 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000072608
Gene: ENSMUSG00000064194
AA Change: Q376R
| 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 |
probably damaging
Transcript: ENSMUST00000202535
AA Change: Q377R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000143800
Gene: ENSMUSG00000064194
AA Change: Q377R
| 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 |
probably benign
Transcript: ENSMUST00000205912
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Bcor |
C |
T |
X: 11,906,725 (GRCm39) |
R1551Q |
probably damaging |
Het |
| Btbd19 |
T |
G |
4: 116,978,628 (GRCm39) |
I152L |
probably damaging |
Het |
| Dnaaf11 |
T |
C |
15: 66,314,067 (GRCm39) |
D311G |
probably benign |
Het |
| Dync2i1 |
C |
T |
12: 116,219,486 (GRCm39) |
R152H |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 64,046,845 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
A |
G |
3: 39,034,946 (GRCm39) |
D2866G |
probably damaging |
Het |
| Fkbp10 |
C |
T |
11: 100,313,925 (GRCm39) |
A311V |
probably benign |
Het |
| Fnbp1l |
T |
C |
3: 122,338,312 (GRCm39) |
N511S |
probably benign |
Het |
| Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
| Gltp |
A |
G |
5: 114,812,122 (GRCm39) |
I147T |
probably benign |
Het |
| Gpr37 |
A |
T |
6: 25,669,614 (GRCm39) |
I410N |
possibly damaging |
Het |
| Hivep2 |
G |
A |
10: 14,015,169 (GRCm39) |
G1779R |
probably damaging |
Het |
| Ifna14 |
T |
C |
4: 88,489,599 (GRCm39) |
Y146C |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,449,432 (GRCm39) |
D662G |
possibly damaging |
Het |
| Lrrc9 |
A |
T |
12: 72,496,163 (GRCm39) |
I13F |
probably damaging |
Het |
| Map2k3 |
T |
A |
11: 60,834,317 (GRCm39) |
I95N |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,637,807 (GRCm39) |
I594T |
probably damaging |
Het |
| Mettl14 |
T |
C |
3: 123,168,474 (GRCm39) |
I189V |
possibly damaging |
Het |
| Msh2 |
C |
A |
17: 88,030,841 (GRCm39) |
A906E |
probably benign |
Het |
| Odf4 |
C |
A |
11: 68,813,672 (GRCm39) |
C133F |
probably damaging |
Het |
| Opa1 |
A |
T |
16: 29,416,438 (GRCm39) |
Q106L |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,868,216 (GRCm39) |
N5S |
probably damaging |
Het |
| Pax4 |
T |
G |
6: 28,446,269 (GRCm39) |
S75R |
probably damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,923,629 (GRCm39) |
|
probably null |
Het |
| Ptpn20 |
T |
C |
14: 33,353,068 (GRCm39) |
I269T |
probably benign |
Het |
| Ptprq |
T |
C |
10: 107,360,192 (GRCm39) |
Q2161R |
probably damaging |
Het |
| Rab22a |
A |
G |
2: 173,503,280 (GRCm39) |
D31G |
probably damaging |
Het |
| Rap1gds1 |
A |
T |
3: 138,664,817 (GRCm39) |
M296K |
probably damaging |
Het |
| Rfx1 |
A |
G |
8: 84,819,840 (GRCm39) |
T692A |
probably damaging |
Het |
| Sf3b2 |
A |
G |
19: 5,325,165 (GRCm39) |
V769A |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,652,762 (GRCm39) |
F621I |
unknown |
Het |
| Spink5 |
A |
C |
18: 44,132,924 (GRCm39) |
R513S |
possibly damaging |
Het |
| Srrm2 |
C |
T |
17: 24,038,524 (GRCm39) |
|
probably benign |
Het |
| Srrt |
A |
G |
5: 137,295,035 (GRCm39) |
|
probably null |
Het |
| Sun3 |
T |
C |
11: 8,973,295 (GRCm39) |
Q134R |
possibly damaging |
Het |
| Tpo |
A |
G |
12: 30,155,979 (GRCm39) |
V174A |
probably benign |
Het |
| Ucp1 |
A |
G |
8: 84,020,832 (GRCm39) |
R183G |
possibly damaging |
Het |
| Vmn2r66 |
A |
G |
7: 84,656,017 (GRCm39) |
V333A |
probably benign |
Het |
| Zfp108 |
G |
T |
7: 23,960,163 (GRCm39) |
K251N |
probably benign |
Het |
| Zkscan2 |
T |
C |
7: 123,099,090 (GRCm39) |
E34G |
probably benign |
Het |
| Zup1 |
T |
A |
10: 33,825,439 (GRCm39) |
E14D |
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 |
|
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 |
|
R8016:Zfp936
|
UTSW |
7 |
42,838,848 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
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'- AAAGCCTTTTCACACCAGAGTAAT -3'
(R):5'- TGAATAGGCTTCATCACATTGGT -3'
Sequencing Primer
(F):5'- GTGATAAAGCCTTTTCACACCAGAG -3'
(R):5'- GACTGCGTTGTGTAAAAGCCTTACC -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation