Incidental Mutation 'R3704:Zmat4'
| ID |
258652 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zmat4
|
| Ensembl Gene |
ENSMUSG00000037492 |
| Gene Name |
zinc finger, matrin type 4 |
| Synonyms |
9630048M01Rik |
| MMRRC Submission |
040697-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R3704 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
24137347-24553133 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24287430 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 59
(R59G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115719
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042352]
[ENSMUST00000123412]
[ENSMUST00000131410]
[ENSMUST00000135747]
[ENSMUST00000207301]
|
| AlphaFold |
Q8BZ94 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042352
AA Change: R59G
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000049430
Gene: ENSMUSG00000037492
AA Change: R59G
| 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
AA Change: R59G
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000121626
Gene: ENSMUSG00000037492
AA Change: R59G
| 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
AA Change: R59G
PolyPhen 2
Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000115719
Gene: ENSMUSG00000037492
AA Change: R59G
| Domain | Start | End | E-Value | Type |
|---|
|
ZnF_U1
|
11 |
45 |
8.34e-6 |
SMART |
|
ZnF_U1
|
72 |
96 |
1.09e1 |
SMART |
|
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000207301
|
| Meta Mutation Damage Score |
0.1033 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 91.8%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,803 (GRCm39) |
T595A |
possibly damaging |
Het |
| Akap13 |
T |
C |
7: 75,316,298 (GRCm39) |
C585R |
probably damaging |
Het |
| Akr1b10 |
G |
T |
6: 34,371,689 (GRCm39) |
D285Y |
probably damaging |
Het |
| Akr1b10 |
A |
G |
6: 34,371,690 (GRCm39) |
D257G |
probably benign |
Het |
| Ankrd17 |
A |
T |
5: 90,391,828 (GRCm39) |
N1838K |
possibly damaging |
Het |
| Asap3 |
TGAGGAGGAGGAGGAGGA |
TGAGGAGGAGGAGGAGGAGGA |
4: 135,968,552 (GRCm39) |
|
probably benign |
Het |
| Bcap29 |
T |
C |
12: 31,667,151 (GRCm39) |
H170R |
probably benign |
Het |
| Brwd3 |
A |
G |
X: 107,804,021 (GRCm39) |
|
probably benign |
Het |
| Capn1 |
T |
C |
19: 6,057,401 (GRCm39) |
E349G |
probably damaging |
Het |
| Cd27 |
C |
T |
6: 125,210,361 (GRCm39) |
C222Y |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,583,912 (GRCm39) |
T584K |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,703,608 (GRCm39) |
|
probably null |
Het |
| Col22a1 |
T |
C |
15: 71,842,156 (GRCm39) |
T443A |
probably damaging |
Het |
| Crisp3 |
A |
G |
17: 40,546,848 (GRCm39) |
|
probably benign |
Het |
| Cubn |
T |
A |
2: 13,355,754 (GRCm39) |
H1826L |
probably damaging |
Het |
| Eci2 |
A |
G |
13: 35,177,216 (GRCm39) |
|
probably benign |
Het |
| Fat2 |
A |
C |
11: 55,200,476 (GRCm39) |
F866C |
probably damaging |
Het |
| Fbxl7 |
C |
A |
15: 26,543,841 (GRCm39) |
G269C |
probably damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Ifi35 |
G |
A |
11: 101,339,430 (GRCm39) |
M1I |
probably null |
Het |
| Jarid2 |
A |
G |
13: 45,055,831 (GRCm39) |
T308A |
probably benign |
Het |
| Kcnq3 |
A |
G |
15: 65,893,588 (GRCm39) |
|
probably null |
Het |
| Kcnt2 |
C |
T |
1: 140,461,706 (GRCm39) |
T819M |
probably damaging |
Het |
| Kifc3 |
G |
A |
8: 95,830,656 (GRCm39) |
|
probably benign |
Het |
| Mill1 |
A |
G |
7: 17,996,978 (GRCm39) |
T190A |
possibly damaging |
Het |
| Mosmo |
A |
G |
7: 120,329,828 (GRCm39) |
I150V |
probably damaging |
Het |
| Nemf |
C |
A |
12: 69,377,904 (GRCm39) |
D566Y |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,898,702 (GRCm39) |
|
probably benign |
Het |
| Or8b101 |
T |
A |
9: 38,020,299 (GRCm39) |
F106I |
possibly damaging |
Het |
| Paip2 |
A |
G |
18: 35,743,974 (GRCm39) |
T9A |
probably benign |
Het |
| Pde5a |
T |
C |
3: 122,572,668 (GRCm39) |
S318P |
probably benign |
Het |
| Plcd1 |
T |
C |
9: 118,905,277 (GRCm39) |
I145V |
possibly damaging |
Het |
| Prl2c2 |
C |
T |
13: 13,176,810 (GRCm39) |
R37H |
probably damaging |
Het |
| Raet1e |
A |
G |
10: 22,056,744 (GRCm39) |
T107A |
probably benign |
Het |
| Reps1 |
T |
G |
10: 17,983,428 (GRCm39) |
F424V |
probably damaging |
Het |
| Skint6 |
A |
T |
4: 112,993,669 (GRCm39) |
V401D |
possibly damaging |
Het |
| Srgn |
T |
C |
10: 62,333,609 (GRCm39) |
D56G |
probably damaging |
Het |
| Tmem63a |
G |
A |
1: 180,790,679 (GRCm39) |
D446N |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,662,124 (GRCm39) |
|
probably benign |
Het |
| Ugt2b37 |
A |
T |
5: 87,390,846 (GRCm39) |
F340L |
possibly damaging |
Het |
| Xirp1 |
T |
A |
9: 120,016,907 (GRCm38) |
Q970L |
probably benign |
Het |
| Zfr2 |
T |
G |
10: 81,081,913 (GRCm39) |
V493G |
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 |
|
R2166:Zmat4
|
UTSW |
8 |
24,392,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- CCATGGAATTTTCAGGAGCAC -3'
(R):5'- AGCAGGTTCCCGTAGAAAGG -3'
Sequencing Primer
(F):5'- TCAGGAGCACAAGAAAGTATTTTC -3'
(R):5'- TCCCGTAGAAAGGAAAAGGCCATC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation