Incidental Mutation 'R8536:Zmat4'
ID |
659241 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Zmat4
|
Ensembl Gene |
ENSMUSG00000037492 |
Gene Name |
zinc finger, matrin type 4 |
Synonyms |
9630048M01Rik |
MMRRC Submission |
067890-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.134)
|
Stock # |
R8536 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
24137347-24553133 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 24238523 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146734
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042352]
[ENSMUST00000123412]
[ENSMUST00000131410]
[ENSMUST00000135747]
[ENSMUST00000207301]
|
AlphaFold |
Q8BZ94 |
Predicted Effect |
probably null
Transcript: ENSMUST00000042352
|
SMART Domains |
Protein: ENSMUSP00000049430 Gene: ENSMUSG00000037492
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 benign
Transcript: ENSMUST00000123412
|
SMART Domains |
Protein: ENSMUSP00000121626 Gene: ENSMUSG00000037492
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 null
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 null
Transcript: ENSMUST00000135747
|
SMART Domains |
Protein: ENSMUSP00000121337 Gene: ENSMUSG00000037492
Domain | Start | End | E-Value | Type |
ZnF_U1
|
25 |
59 |
8.34e-6 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000207301
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930505A04Rik |
C |
T |
11: 30,376,217 (GRCm39) |
V217M |
probably benign |
Het |
Abca4 |
A |
G |
3: 121,973,394 (GRCm39) |
Q1074R |
probably benign |
Het |
Ablim1 |
T |
C |
19: 57,170,718 (GRCm39) |
|
probably benign |
Het |
Acox2 |
A |
T |
14: 8,256,081 (GRCm38) |
D79E |
probably benign |
Het |
Bpifb9b |
A |
G |
2: 154,158,197 (GRCm39) |
I440V |
probably benign |
Het |
Ccdc7a |
T |
A |
8: 129,516,601 (GRCm39) |
T118S |
possibly damaging |
Het |
Cntln |
T |
C |
4: 84,875,286 (GRCm39) |
I240T |
probably damaging |
Het |
Col15a1 |
T |
C |
4: 47,208,536 (GRCm39) |
|
probably null |
Het |
Cox18 |
A |
G |
5: 90,362,877 (GRCm39) |
F326S |
probably damaging |
Het |
Dnm1l |
C |
A |
16: 16,176,639 (GRCm39) |
V31L |
probably benign |
Het |
Dst |
C |
A |
1: 34,236,327 (GRCm39) |
L3578M |
possibly damaging |
Het |
Fbxw24 |
G |
A |
9: 109,452,599 (GRCm39) |
T132I |
probably damaging |
Het |
Fchsd1 |
A |
G |
18: 38,100,823 (GRCm39) |
V120A |
probably benign |
Het |
Fibcd1 |
T |
C |
2: 31,706,643 (GRCm39) |
E396G |
probably damaging |
Het |
Fryl |
G |
T |
5: 73,257,696 (GRCm39) |
T702K |
probably damaging |
Het |
Gatb |
A |
T |
3: 85,511,868 (GRCm39) |
I208F |
probably damaging |
Het |
Gzmd |
T |
C |
14: 56,367,158 (GRCm39) |
I245V |
probably damaging |
Het |
Lats2 |
G |
A |
14: 57,940,495 (GRCm39) |
A119V |
probably damaging |
Het |
Lztfl1 |
A |
T |
9: 123,540,119 (GRCm39) |
F129L |
probably benign |
Het |
Meak7 |
T |
C |
8: 120,490,787 (GRCm39) |
N320S |
probably benign |
Het |
Mmp2 |
A |
T |
8: 93,557,253 (GRCm39) |
Y53F |
probably damaging |
Het |
Mttp |
G |
A |
3: 137,810,704 (GRCm39) |
R637C |
probably damaging |
Het |
Ndufa8 |
A |
C |
2: 35,939,312 (GRCm39) |
|
probably benign |
Het |
Nek11 |
A |
T |
9: 105,175,538 (GRCm39) |
M302K |
probably benign |
Het |
Nek6 |
A |
G |
2: 38,404,797 (GRCm39) |
|
probably null |
Het |
Numa1 |
C |
T |
7: 101,650,787 (GRCm39) |
A1506V |
probably damaging |
Het |
Plxdc1 |
A |
T |
11: 97,869,522 (GRCm39) |
|
probably null |
Het |
Poteg |
C |
A |
8: 27,938,048 (GRCm39) |
T6K |
probably benign |
Het |
Rbm26 |
A |
T |
14: 105,380,274 (GRCm39) |
N514K |
possibly damaging |
Het |
Rnf145 |
T |
C |
11: 44,450,942 (GRCm39) |
L422P |
probably damaging |
Het |
Scn5a |
G |
T |
9: 119,368,811 (GRCm39) |
T238K |
probably damaging |
Het |
Shd |
G |
A |
17: 56,283,315 (GRCm39) |
A315T |
probably damaging |
Het |
Sirpd |
A |
G |
3: 15,361,614 (GRCm39) |
*179R |
probably null |
Het |
Slco5a1 |
T |
G |
1: 12,951,525 (GRCm39) |
T593P |
possibly damaging |
Het |
Stard9 |
G |
A |
2: 120,545,140 (GRCm39) |
R4560H |
possibly damaging |
Het |
Traf3ip3 |
C |
T |
1: 192,876,823 (GRCm39) |
|
probably null |
Het |
Trpm1 |
G |
C |
7: 63,897,155 (GRCm39) |
K252N |
probably damaging |
Het |
Ttc7b |
A |
T |
12: 100,339,803 (GRCm39) |
I584K |
possibly damaging |
Het |
Vmn1r218 |
T |
C |
13: 23,321,535 (GRCm39) |
V214A |
probably benign |
Het |
Wdfy3 |
G |
T |
5: 102,033,064 (GRCm39) |
H2215Q |
probably benign |
Het |
Wls |
G |
A |
3: 159,578,748 (GRCm39) |
M103I |
probably damaging |
Het |
Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
probably damaging |
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 |
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 |
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'- TTGGGACCCTGGCTTTTCAC -3'
(R):5'- TTTATTTACCCAGGGCTGCAG -3'
Sequencing Primer
(F):5'- GTTCCTCATTATCATCAGAGTAACCG -3'
(R):5'- TTACCCAGGGCTGCAGAATAAATTC -3'
|
Posted On |
2021-01-18 |