Incidental Mutation 'R2166:Zmat4'
| ID |
235492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmat4
|
| Ensembl Gene |
ENSMUSG00000037492 |
| Gene Name |
zinc finger, matrin type 4 |
| Synonyms |
9630048M01Rik |
| MMRRC Submission |
040169-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.134)
|
| Stock # |
R2166 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
24137347-24553133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24392152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 36
(L36P)
|
| 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: L105P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000049430
Gene: ENSMUSG00000037492
AA Change: L105P
| 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: L105P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000121626
Gene: ENSMUSG00000037492
AA Change: L105P
| 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 benign
Transcript: ENSMUST00000131410
|
| SMART Domains |
Protein: ENSMUSP00000115719
Gene: ENSMUSG00000037492
| 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: L36P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.1196 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.7%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
T |
13: 81,716,762 (GRCm39) |
F779I |
probably damaging |
Het |
| Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
| Birc6 |
A |
T |
17: 74,942,790 (GRCm39) |
T2761S |
probably benign |
Het |
| Cav1 |
A |
T |
6: 17,339,430 (GRCm39) |
I141F |
possibly damaging |
Het |
| Cmklr2 |
A |
G |
1: 63,223,107 (GRCm39) |
F43L |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,565,898 (GRCm39) |
D39G |
possibly damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,579,513 (GRCm39) |
|
probably null |
Het |
| Il1b |
A |
T |
2: 129,206,968 (GRCm39) |
M264K |
probably damaging |
Het |
| Itpr1 |
A |
G |
6: 108,365,186 (GRCm39) |
Y38C |
probably damaging |
Het |
| Kcnb2 |
A |
C |
1: 15,781,540 (GRCm39) |
D804A |
possibly damaging |
Het |
| Kcnt1 |
T |
A |
2: 25,781,195 (GRCm39) |
|
probably benign |
Het |
| Krt6b |
T |
C |
15: 101,587,050 (GRCm39) |
|
probably null |
Het |
| Mef2a |
A |
G |
7: 66,915,870 (GRCm39) |
V144A |
probably damaging |
Het |
| Mroh3 |
A |
G |
1: 136,113,791 (GRCm39) |
M666T |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,607,363 (GRCm39) |
Y702F |
probably benign |
Het |
| Napepld |
T |
A |
5: 21,888,230 (GRCm39) |
K73I |
possibly damaging |
Het |
| Or5h23 |
T |
A |
16: 58,905,949 (GRCm39) |
K299I |
probably benign |
Het |
| Or8g21 |
G |
A |
9: 38,906,513 (GRCm39) |
Q73* |
probably null |
Het |
| Pappa |
A |
C |
4: 65,074,682 (GRCm39) |
D412A |
probably damaging |
Het |
| Plbd1 |
A |
G |
6: 136,590,788 (GRCm39) |
|
probably null |
Het |
| Ppp1r10 |
G |
T |
17: 36,241,481 (GRCm39) |
R752L |
unknown |
Het |
| Prep |
T |
C |
10: 44,968,751 (GRCm39) |
|
probably benign |
Het |
| Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
| Ptprz1 |
A |
G |
6: 23,045,632 (GRCm39) |
N2134S |
possibly damaging |
Het |
| Rhbdl3 |
A |
G |
11: 80,210,523 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rtkn2 |
T |
C |
10: 67,877,526 (GRCm39) |
S532P |
possibly damaging |
Het |
| Rtl1 |
T |
A |
12: 109,556,988 (GRCm39) |
H1617L |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,711,649 (GRCm39) |
N956I |
probably benign |
Het |
| Slc13a2 |
A |
G |
11: 78,293,901 (GRCm39) |
V287A |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,928 (GRCm39) |
K386E |
probably damaging |
Het |
| Spata20 |
G |
A |
11: 94,369,930 (GRCm39) |
H789Y |
probably benign |
Het |
| Stk19 |
A |
G |
17: 35,051,486 (GRCm39) |
I23T |
possibly damaging |
Het |
| Tonsl |
A |
G |
15: 76,521,513 (GRCm39) |
I293T |
probably benign |
Het |
| Topbp1 |
A |
G |
9: 103,190,128 (GRCm39) |
|
probably null |
Het |
| Trappc2l |
T |
A |
8: 123,339,901 (GRCm39) |
S44T |
probably benign |
Het |
| Tsr1 |
A |
G |
11: 74,798,280 (GRCm39) |
|
probably null |
Het |
| Ugdh |
A |
G |
5: 65,574,357 (GRCm39) |
|
probably benign |
Het |
| Unc119 |
A |
G |
11: 78,238,161 (GRCm39) |
|
probably null |
Het |
| Zkscan14 |
G |
A |
5: 145,132,944 (GRCm39) |
P196S |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGGACTTGAGTTCTTCTGTGAC -3'
(R):5'- GTGCACAAGCCCATGAACTC -3'
Sequencing Primer
(F):5'- GACTTGAGTTCTTCTGTGACACTGTC -3'
(R):5'- CTAAAGGTCCTGTTCGGCTCAG -3'
|
| Posted On |
2014-10-01 |
Incidental Mutation