Incidental Mutation 'IGL01678:Zmat4'
| ID |
103701 |
| 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: 0.104)
|
| Stock # |
IGL01678
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
24137347-24553133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24392064 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 7
(C7S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146734
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042352]
[ENSMUST00000123412]
[ENSMUST00000131410]
[ENSMUST00000207301]
|
| AlphaFold |
Q8BZ94 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042352
AA Change: C76S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049430
Gene: ENSMUSG00000037492
AA Change: C76S
| 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: C76S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121626
Gene: ENSMUSG00000037492
AA Change: C76S
| 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 |
probably damaging
Transcript: ENSMUST00000131410
AA Change: C76S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115719
Gene: ENSMUSG00000037492
AA Change: C76S
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_U1
|
11 |
45 |
8.34e-6 |
SMART |
|
ZnF_U1
|
72 |
96 |
1.09e1 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000207301
AA Change: C7S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,443 (GRCm39) |
M236K |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,222,883 (GRCm39) |
M186K |
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,855,715 (GRCm39) |
N385S |
probably damaging |
Het |
| Adamts6 |
T |
C |
13: 104,450,196 (GRCm39) |
V299A |
probably damaging |
Het |
| Angel1 |
T |
C |
12: 86,763,800 (GRCm39) |
E500G |
probably benign |
Het |
| Car9 |
T |
C |
4: 43,512,941 (GRCm39) |
|
probably benign |
Het |
| Colec11 |
A |
G |
12: 28,644,867 (GRCm39) |
F209S |
probably damaging |
Het |
| Dnaaf10 |
T |
C |
11: 17,182,790 (GRCm39) |
V317A |
probably benign |
Het |
| Dock10 |
A |
G |
1: 80,521,069 (GRCm39) |
Y1179H |
probably damaging |
Het |
| Ece1 |
T |
A |
4: 137,690,044 (GRCm39) |
W697R |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
| Flii |
G |
T |
11: 60,607,672 (GRCm39) |
|
probably benign |
Het |
| Frmpd1 |
T |
A |
4: 45,243,717 (GRCm39) |
D63E |
probably damaging |
Het |
| Ftmt |
A |
T |
18: 52,465,206 (GRCm39) |
H174L |
probably damaging |
Het |
| Gpr37l1 |
A |
G |
1: 135,094,791 (GRCm39) |
V151A |
probably damaging |
Het |
| Inppl1 |
T |
C |
7: 101,481,803 (GRCm39) |
T180A |
probably benign |
Het |
| Klhdc4 |
T |
C |
8: 122,523,677 (GRCm39) |
D513G |
possibly damaging |
Het |
| Klrb1a |
A |
G |
6: 128,595,411 (GRCm39) |
|
probably benign |
Het |
| Nit1 |
A |
G |
1: 171,170,262 (GRCm39) |
V270A |
probably damaging |
Het |
| Or6c5 |
A |
C |
10: 129,074,537 (GRCm39) |
D173A |
possibly damaging |
Het |
| Phox2b |
T |
A |
5: 67,256,262 (GRCm39) |
Y8F |
probably damaging |
Het |
| Psg20 |
T |
A |
7: 18,414,795 (GRCm39) |
S364C |
probably damaging |
Het |
| Rab38 |
T |
A |
7: 88,079,740 (GRCm39) |
V44E |
probably damaging |
Het |
| Rapgef4 |
T |
C |
2: 72,072,569 (GRCm39) |
|
probably benign |
Het |
| Ror1 |
C |
T |
4: 100,283,165 (GRCm39) |
P410L |
possibly damaging |
Het |
| Rptn |
A |
G |
3: 93,304,118 (GRCm39) |
N484D |
probably benign |
Het |
| Sirpb1a |
G |
T |
3: 15,476,370 (GRCm39) |
S142R |
probably damaging |
Het |
| Smox |
G |
A |
2: 131,353,979 (GRCm39) |
R17H |
possibly damaging |
Het |
| Top6bl |
T |
A |
19: 4,722,193 (GRCm39) |
I76L |
possibly damaging |
Het |
| Trpm7 |
A |
T |
2: 126,658,719 (GRCm39) |
C1146S |
probably damaging |
Het |
| Upf3a |
C |
T |
8: 13,841,930 (GRCm39) |
A155V |
probably benign |
Het |
| Vmn1r212 |
A |
T |
13: 23,068,081 (GRCm39) |
V84D |
probably damaging |
Het |
| Vmn2r40 |
T |
C |
7: 8,923,105 (GRCm39) |
N419D |
probably damaging |
Het |
| Zfp143 |
C |
A |
7: 109,679,558 (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 |
|
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 |
|
IGL03203:Zmat4
|
APN |
8 |
24,505,200 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2014-01-21 |
Incidental Mutation