Incidental Mutation 'R4406:Zfp936'
| ID |
327655 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zfp936
|
| Ensembl Gene |
ENSMUSG00000064194 |
| Gene Name |
zinc finger protein 936 |
| Synonyms |
EG435970, Gm9272, I1C0022H11Rik |
| MMRRC Submission |
041688-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.686)
|
| Stock # |
R4406 (G1)
|
| Quality Score |
222 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
42763653-42841533 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 42839748 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 405
(Q405R)
|
| 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: Q404R
PolyPhen 2
Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000072608
Gene: ENSMUSG00000064194
AA Change: Q404R
| 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: Q405R
PolyPhen 2
Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143800
Gene: ENSMUSG00000064194
AA Change: Q405R
| 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
|
| Meta Mutation Damage Score |
0.2965 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
C |
T |
11: 84,171,275 (GRCm39) |
L1170F |
probably benign |
Het |
| Acss3 |
A |
T |
10: 106,889,198 (GRCm39) |
D207E |
probably damaging |
Het |
| Adgrl1 |
T |
C |
8: 84,656,671 (GRCm39) |
S325P |
probably damaging |
Het |
| Ankrd37 |
A |
G |
8: 46,450,131 (GRCm39) |
|
probably benign |
Het |
| Atp13a2 |
C |
T |
4: 140,733,787 (GRCm39) |
P1059S |
probably damaging |
Het |
| Camkv |
T |
C |
9: 107,823,418 (GRCm39) |
|
probably null |
Het |
| Ces1f |
T |
C |
8: 93,989,950 (GRCm39) |
T387A |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,022,620 (GRCm39) |
L1653I |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fat2 |
G |
A |
11: 55,153,094 (GRCm39) |
A3706V |
probably benign |
Het |
| Fbln1 |
T |
A |
15: 85,115,757 (GRCm39) |
|
probably null |
Het |
| Gm1527 |
G |
A |
3: 28,949,874 (GRCm39) |
V45M |
possibly damaging |
Het |
| Gm5084 |
A |
G |
13: 60,360,380 (GRCm39) |
|
noncoding transcript |
Het |
| Itpr1 |
T |
A |
6: 108,331,624 (GRCm39) |
H194Q |
probably damaging |
Het |
| Kif24 |
A |
T |
4: 41,393,954 (GRCm39) |
L973Q |
probably damaging |
Het |
| Lrfn4 |
T |
C |
19: 4,663,299 (GRCm39) |
T412A |
probably benign |
Het |
| Ly75 |
T |
C |
2: 60,184,894 (GRCm39) |
E420G |
probably damaging |
Het |
| Map3k12 |
T |
C |
15: 102,413,837 (GRCm39) |
T45A |
probably damaging |
Het |
| Mib1 |
A |
C |
18: 10,763,289 (GRCm39) |
K446N |
probably damaging |
Het |
| Mrpl4 |
T |
C |
9: 20,918,231 (GRCm39) |
W146R |
probably damaging |
Het |
| Myof |
A |
G |
19: 37,911,426 (GRCm39) |
S1502P |
probably damaging |
Het |
| Nomo1 |
A |
G |
7: 45,706,092 (GRCm39) |
N482S |
probably benign |
Het |
| Or2y1 |
G |
A |
11: 49,385,744 (GRCm39) |
R128H |
probably benign |
Het |
| Or5b105 |
A |
G |
19: 13,079,958 (GRCm39) |
S237P |
possibly damaging |
Het |
| Or5b96 |
A |
T |
19: 12,867,598 (GRCm39) |
Y114* |
probably null |
Het |
| Or8g21 |
T |
C |
9: 38,905,865 (GRCm39) |
I289V |
possibly damaging |
Het |
| Or9s15 |
T |
A |
1: 92,525,036 (GRCm39) |
M265K |
possibly damaging |
Het |
| Osbpl10 |
C |
T |
9: 114,938,549 (GRCm39) |
H70Y |
probably damaging |
Het |
| Pdilt |
A |
C |
7: 119,094,232 (GRCm39) |
S340A |
probably damaging |
Het |
| Ppan |
C |
A |
9: 20,802,288 (GRCm39) |
D226E |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sema3g |
G |
A |
14: 30,950,116 (GRCm39) |
V766M |
probably benign |
Het |
| Skint6 |
T |
A |
4: 113,013,683 (GRCm39) |
N356I |
probably benign |
Het |
| Slco2b1 |
A |
T |
7: 99,314,096 (GRCm39) |
S496T |
probably benign |
Het |
| Trak1 |
T |
C |
9: 121,260,602 (GRCm39) |
V11A |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Umod |
G |
A |
7: 119,065,287 (GRCm39) |
P581S |
probably damaging |
Het |
| Zfat |
A |
G |
15: 68,052,040 (GRCm39) |
S585P |
probably benign |
Het |
| Zfp472 |
C |
A |
17: 33,197,134 (GRCm39) |
T403N |
probably benign |
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 |
|
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 |
|
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'- AGCCTTTTCACACCAGAGTAAT -3'
(R):5'- TGTGAATAGGCTTCATCACATTGGT -3'
Sequencing Primer
(F):5'- GTGTGATAAAGCCTTTGCACACC -3'
(R):5'- GTTACATATTTAGAGTCTCCCTCCAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation