Incidental Mutation 'IGL02335:Zfp936'
| ID |
289707 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zfp936
|
| Ensembl Gene |
ENSMUSG00000064194 |
| Gene Name |
zinc finger protein 936 |
| Synonyms |
EG435970, Gm9272, I1C0022H11Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.686)
|
| Stock # |
IGL02335
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
42763653-42841533 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 42836691 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 34
(L34Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000072829]
[ENSMUST00000200973]
[ENSMUST00000202535]
[ENSMUST00000205912]
|
| AlphaFold |
Q3ULA8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072829
AA Change: L33Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000072608
Gene: ENSMUSG00000064194
AA Change: L33Q
| 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 damaging
Transcript: ENSMUST00000200973
AA Change: L34Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144191
Gene: ENSMUSG00000064194
AA Change: L34Q
| Domain | Start | End | E-Value | Type |
|---|
|
KRAB
|
4 |
66 |
1.4e-21 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000202535
AA Change: L34Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143800
Gene: ENSMUSG00000064194
AA Change: L34Q
| 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 damaging
Transcript: ENSMUST00000205912
AA Change: L34Q
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
C |
T |
9: 99,502,266 (GRCm39) |
T142I |
probably benign |
Het |
| Aadacl2fm2 |
G |
A |
3: 59,651,026 (GRCm39) |
M49I |
probably benign |
Het |
| Acaca |
A |
G |
11: 84,105,084 (GRCm39) |
T147A |
possibly damaging |
Het |
| Agbl3 |
A |
G |
6: 34,776,685 (GRCm39) |
D397G |
probably damaging |
Het |
| Ank1 |
C |
T |
8: 23,625,654 (GRCm39) |
T1597M |
possibly damaging |
Het |
| Arl4d |
A |
G |
11: 101,557,755 (GRCm39) |
T94A |
possibly damaging |
Het |
| Cd22 |
A |
G |
7: 30,575,559 (GRCm39) |
I161T |
probably damaging |
Het |
| Clcn7 |
C |
T |
17: 25,365,821 (GRCm39) |
L166F |
probably benign |
Het |
| Cnbd1 |
G |
T |
4: 19,055,095 (GRCm39) |
N110K |
possibly damaging |
Het |
| Col14a1 |
A |
T |
15: 55,327,165 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,661,300 (GRCm39) |
V270M |
probably damaging |
Het |
| Cox8b |
C |
A |
7: 140,478,990 (GRCm39) |
G42W |
probably damaging |
Het |
| Csn1s1 |
A |
T |
5: 87,828,704 (GRCm39) |
D275V |
probably benign |
Het |
| Cubn |
T |
A |
2: 13,432,645 (GRCm39) |
|
probably null |
Het |
| Dctn2 |
T |
C |
10: 127,111,690 (GRCm39) |
|
probably benign |
Het |
| Dnm1l |
A |
G |
16: 16,160,604 (GRCm39) |
|
probably benign |
Het |
| Dpp4 |
T |
C |
2: 62,164,988 (GRCm39) |
E687G |
probably benign |
Het |
| Fbxw20 |
T |
C |
9: 109,052,377 (GRCm39) |
K249E |
possibly damaging |
Het |
| Fhl2 |
C |
T |
1: 43,167,550 (GRCm39) |
W181* |
probably null |
Het |
| G2e3 |
T |
A |
12: 51,415,941 (GRCm39) |
M559K |
probably benign |
Het |
| Gdap1l1 |
A |
T |
2: 163,289,515 (GRCm39) |
Y160F |
possibly damaging |
Het |
| Gm1110 |
T |
C |
9: 26,793,059 (GRCm39) |
I572M |
probably benign |
Het |
| Gpatch2l |
T |
A |
12: 86,303,711 (GRCm39) |
|
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,573,051 (GRCm39) |
L250P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,041,962 (GRCm39) |
N57K |
probably benign |
Het |
| Lingo1 |
A |
G |
9: 56,527,365 (GRCm39) |
L408P |
probably damaging |
Het |
| Mmrn1 |
A |
T |
6: 60,954,131 (GRCm39) |
N804I |
possibly damaging |
Het |
| Mroh7 |
A |
G |
4: 106,564,979 (GRCm39) |
L545S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,213,648 (GRCm39) |
|
probably null |
Het |
| Or10q1 |
A |
G |
19: 13,727,298 (GRCm39) |
D276G |
probably benign |
Het |
| Or11a4 |
A |
G |
17: 37,536,217 (GRCm39) |
N67S |
probably damaging |
Het |
| Or5b94 |
T |
C |
19: 12,651,602 (GRCm39) |
I11T |
probably damaging |
Het |
| Pls1 |
A |
T |
9: 95,666,236 (GRCm39) |
N138K |
probably benign |
Het |
| Prkch |
C |
A |
12: 73,749,286 (GRCm39) |
N345K |
probably benign |
Het |
| Reps1 |
T |
C |
10: 17,931,865 (GRCm39) |
|
probably null |
Het |
| Rrp7a |
T |
C |
15: 83,006,892 (GRCm39) |
E15G |
probably benign |
Het |
| Scart2 |
A |
T |
7: 139,876,453 (GRCm39) |
N526Y |
probably damaging |
Het |
| Scn1a |
T |
A |
2: 66,108,005 (GRCm39) |
T1557S |
possibly damaging |
Het |
| Smtn |
T |
C |
11: 3,476,215 (GRCm39) |
E602G |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,100,123 (GRCm39) |
|
probably null |
Het |
| Tbxas1 |
A |
G |
6: 39,000,014 (GRCm39) |
D267G |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,205,722 (GRCm39) |
N787D |
probably damaging |
Het |
| Vmn2r22 |
T |
G |
6: 123,615,051 (GRCm39) |
S180R |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,316,463 (GRCm39) |
E48D |
possibly damaging |
Het |
| Zfp608 |
G |
A |
18: 55,030,509 (GRCm39) |
Q1144* |
probably null |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation