Incidental Mutation 'IGL03203:Zmat4'
| ID |
413059 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Zmat4
|
| Ensembl Gene |
ENSMUSG00000037492 |
| Gene Name |
zinc finger, matrin type 4 |
| Synonyms |
9630048M01Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
IGL03203
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
24137347-24553133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 24505200 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 147
(H147Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042352]
[ENSMUST00000123412]
[ENSMUST00000207301]
|
| AlphaFold |
Q8BZ94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042352
AA Change: H216Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000049430
Gene: ENSMUSG00000037492
AA Change: H216Y
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_U1
|
11 |
45 |
8.34e-6 |
SMART |
|
ZnF_C2H2
|
14 |
38 |
4.99e1 |
SMART |
|
ZnF_U1
|
72 |
106 |
8.6e-8 |
SMART |
|
ZnF_C2H2
|
75 |
99 |
1.33e1 |
SMART |
|
ZnF_U1
|
142 |
176 |
4.37e-9 |
SMART |
|
ZnF_C2H2
|
145 |
169 |
4.38e1 |
SMART |
|
ZnF_U1
|
195 |
229 |
3.08e-2 |
SMART |
|
ZnF_C2H2
|
198 |
222 |
1.62e0 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000123412
AA Change: H216Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000121626
Gene: ENSMUSG00000037492
AA Change: H216Y
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_U1
|
11 |
45 |
8.34e-6 |
SMART |
|
ZnF_C2H2
|
14 |
38 |
4.99e1 |
SMART |
|
ZnF_U1
|
72 |
106 |
8.6e-8 |
SMART |
|
ZnF_C2H2
|
75 |
99 |
1.33e1 |
SMART |
|
ZnF_U1
|
142 |
176 |
4.37e-9 |
SMART |
|
ZnF_C2H2
|
145 |
169 |
4.38e1 |
SMART |
|
ZnF_U1
|
195 |
225 |
5.76e0 |
SMART |
|
ZnF_C2H2
|
198 |
222 |
1.62e0 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146774
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207301
AA Change: H147Y
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
T |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
T |
G |
7: 66,711,856 (GRCm39) |
I725S |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,116,073 (GRCm39) |
Y292H |
probably damaging |
Het |
| Cdh19 |
C |
T |
1: 110,817,828 (GRCm39) |
C638Y |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,851,216 (GRCm39) |
M136K |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 114,005,733 (GRCm39) |
I482V |
possibly damaging |
Het |
| Col4a3 |
A |
T |
1: 82,650,360 (GRCm39) |
K539* |
probably null |
Het |
| D630045J12Rik |
A |
G |
6: 38,145,156 (GRCm39) |
V1290A |
probably damaging |
Het |
| Ear6 |
T |
G |
14: 52,091,703 (GRCm39) |
S83R |
probably benign |
Het |
| Gdf10 |
T |
C |
14: 33,656,430 (GRCm39) |
V464A |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,296,182 (GRCm39) |
|
probably null |
Het |
| Katnal2 |
G |
T |
18: 77,095,220 (GRCm39) |
A194E |
probably damaging |
Het |
| Lpxn |
A |
T |
19: 12,796,770 (GRCm39) |
M97L |
probably benign |
Het |
| Mn1 |
T |
C |
5: 111,569,269 (GRCm39) |
S1080P |
probably benign |
Het |
| Nadk |
T |
C |
4: 155,669,708 (GRCm39) |
F89L |
probably damaging |
Het |
| Nek5 |
G |
A |
8: 22,608,784 (GRCm39) |
R92W |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nipal4 |
C |
A |
11: 46,041,123 (GRCm39) |
L357F |
probably damaging |
Het |
| Or12d12 |
A |
G |
17: 37,611,317 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,585 (GRCm39) |
N169D |
possibly damaging |
Het |
| Plppr4 |
A |
G |
3: 117,119,540 (GRCm39) |
C290R |
possibly damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,987,145 (GRCm39) |
D332G |
probably benign |
Het |
| Slc9b2 |
G |
A |
3: 135,031,973 (GRCm39) |
D278N |
probably damaging |
Het |
| Taok1 |
A |
G |
11: 77,430,911 (GRCm39) |
V838A |
probably damaging |
Het |
| Thoc1 |
T |
A |
18: 9,960,483 (GRCm39) |
|
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,176,636 (GRCm39) |
V61I |
probably benign |
Het |
| Uxs1 |
A |
G |
1: 43,846,504 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Zmat4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01317:Zmat4
|
APN |
8 |
24,392,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01678:Zmat4
|
APN |
8 |
24,392,064 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02528:Zmat4
|
APN |
8 |
24,505,212 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02638:Zmat4
|
APN |
8 |
24,287,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0208:Zmat4
|
UTSW |
8 |
24,392,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0884:Zmat4
|
UTSW |
8 |
24,505,143 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1856:Zmat4
|
UTSW |
8 |
24,419,151 (GRCm39) |
missense |
probably benign |
0.41 |
|
R1888:Zmat4
|
UTSW |
8 |
24,505,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1888:Zmat4
|
UTSW |
8 |
24,505,177 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2166:Zmat4
|
UTSW |
8 |
24,392,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3704:Zmat4
|
UTSW |
8 |
24,287,430 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4966:Zmat4
|
UTSW |
8 |
24,392,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5063:Zmat4
|
UTSW |
8 |
24,238,457 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5536:Zmat4
|
UTSW |
8 |
24,238,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5990:Zmat4
|
UTSW |
8 |
24,419,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6191:Zmat4
|
UTSW |
8 |
24,392,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6645:Zmat4
|
UTSW |
8 |
24,287,417 (GRCm39) |
splice site |
probably null |
|
|
R6962:Zmat4
|
UTSW |
8 |
24,392,181 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7944:Zmat4
|
UTSW |
8 |
24,238,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7945:Zmat4
|
UTSW |
8 |
24,238,436 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8536:Zmat4
|
UTSW |
8 |
24,238,523 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9182:Zmat4
|
UTSW |
8 |
24,419,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9718:Zmat4
|
UTSW |
8 |
24,238,507 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2016-08-02 |
Incidental Mutation