Incidental Mutation 'R4096:Mad1l1'
| ID |
317130 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mad1l1
|
| Ensembl Gene |
ENSMUSG00000029554 |
| Gene Name |
MAD1 mitotic arrest deficient 1-like 1 |
| Synonyms |
Mad1 |
| MMRRC Submission |
041629-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4096 (G1)
|
| Quality Score |
185 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139994444-140307307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 140293428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 130
(R130H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031534]
[ENSMUST00000110829]
|
| AlphaFold |
Q9WTX8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031534
AA Change: R130H
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: R130H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAD
|
54 |
715 |
1.6e-272 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110829
AA Change: R130H
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554
AA Change: R130H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAD
|
2 |
511 |
2.5e-198 |
PFAM |
|
| Meta Mutation Damage Score |
0.0617 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
97% (31/32) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MAD1L1 is a component of the mitotic spindle-assembly checkpoint that prevents the onset of anaphase until all chromosome are properly aligned at the metaphase plate. MAD1L1 functions as a homodimer and interacts with MAD2L1. MAD1L1 may play a role in cell cycle control and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a null allele die in utero. Aging heterozygous null mice show increased tumor incidence while heterozygous MEFs are more prone to aneuploidy, induce fibrosarcomas in athymic nude mice, and show a weaker spindle assembly checkpoint-mediated arrest n response to nocodazole. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
G |
5: 88,120,008 (GRCm39) |
D255G |
possibly damaging |
Het |
| 4930407I10Rik |
G |
A |
15: 81,946,406 (GRCm39) |
G101D |
probably benign |
Het |
| Angpt2 |
G |
A |
8: 18,748,111 (GRCm39) |
A383V |
probably damaging |
Het |
| Cemip2 |
G |
T |
19: 21,770,016 (GRCm39) |
M1I |
probably null |
Het |
| Ctns |
A |
G |
11: 73,077,212 (GRCm39) |
M252T |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,094,264 (GRCm39) |
H2913Q |
probably damaging |
Het |
| Enox1 |
C |
T |
14: 77,815,160 (GRCm39) |
T106M |
probably damaging |
Het |
| Ext1 |
A |
T |
15: 52,936,753 (GRCm39) |
V664E |
probably damaging |
Het |
| Fat4 |
A |
T |
3: 38,942,024 (GRCm39) |
T306S |
possibly damaging |
Het |
| Fbxl5 |
T |
C |
5: 43,915,583 (GRCm39) |
I610V |
probably benign |
Het |
| Glb1l |
T |
A |
1: 75,186,084 (GRCm39) |
M1L |
probably benign |
Het |
| Hmcn1 |
T |
C |
1: 150,534,259 (GRCm39) |
K3005R |
probably benign |
Het |
| Homer2 |
A |
G |
7: 81,261,052 (GRCm39) |
|
probably null |
Het |
| Il36b |
C |
T |
2: 24,048,826 (GRCm39) |
T77M |
possibly damaging |
Het |
| Kcnq3 |
C |
A |
15: 66,157,664 (GRCm39) |
|
probably null |
Het |
| Man2b1 |
A |
G |
8: 85,811,366 (GRCm39) |
E120G |
probably damaging |
Het |
| Mtus1 |
T |
C |
8: 41,537,284 (GRCm39) |
D144G |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,673,034 (GRCm39) |
|
probably benign |
Het |
| Or5m10 |
T |
C |
2: 85,717,767 (GRCm39) |
S208P |
probably damaging |
Het |
| Or7g17 |
T |
C |
9: 18,767,933 (GRCm39) |
I4T |
probably benign |
Het |
| Or9g3 |
T |
C |
2: 85,590,040 (GRCm39) |
I227V |
possibly damaging |
Het |
| Rrp12 |
A |
G |
19: 41,875,587 (GRCm39) |
I252T |
probably benign |
Het |
| Sbno1 |
A |
T |
5: 124,529,983 (GRCm39) |
|
probably null |
Het |
| Secisbp2l |
C |
T |
2: 125,582,657 (GRCm39) |
G933D |
possibly damaging |
Het |
| Slc10a4-ps |
A |
G |
5: 72,743,709 (GRCm39) |
L3P |
probably damaging |
Het |
| Slc28a2b |
A |
G |
2: 122,353,209 (GRCm39) |
Y463C |
probably damaging |
Het |
| Srpk2 |
A |
T |
5: 23,745,500 (GRCm39) |
|
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,531,147 (GRCm39) |
T214A |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,295,937 (GRCm39) |
E1111G |
unknown |
Het |
| Zpld1 |
C |
G |
16: 55,053,881 (GRCm39) |
D304H |
probably damaging |
Het |
|
| Other mutations in Mad1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01570:Mad1l1
|
APN |
5 |
140,103,032 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02098:Mad1l1
|
APN |
5 |
140,296,344 (GRCm39) |
splice site |
probably benign |
|
|
IGL02100:Mad1l1
|
APN |
5 |
140,129,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03131:Mad1l1
|
APN |
5 |
140,293,458 (GRCm39) |
missense |
probably benign |
0.18 |
|
R0738:Mad1l1
|
UTSW |
5 |
140,286,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1902:Mad1l1
|
UTSW |
5 |
140,289,443 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R1989:Mad1l1
|
UTSW |
5 |
140,289,425 (GRCm39) |
missense |
probably benign |
0.27 |
|
R2090:Mad1l1
|
UTSW |
5 |
139,995,011 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2471:Mad1l1
|
UTSW |
5 |
140,247,307 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4049:Mad1l1
|
UTSW |
5 |
140,118,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4050:Mad1l1
|
UTSW |
5 |
140,118,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4682:Mad1l1
|
UTSW |
5 |
140,286,007 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4729:Mad1l1
|
UTSW |
5 |
140,247,266 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4838:Mad1l1
|
UTSW |
5 |
140,286,017 (GRCm39) |
nonsense |
probably null |
|
|
R5946:Mad1l1
|
UTSW |
5 |
140,247,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6088:Mad1l1
|
UTSW |
5 |
140,179,718 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6362:Mad1l1
|
UTSW |
5 |
140,300,810 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R6845:Mad1l1
|
UTSW |
5 |
139,994,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6957:Mad1l1
|
UTSW |
5 |
140,051,572 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6983:Mad1l1
|
UTSW |
5 |
140,179,739 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7347:Mad1l1
|
UTSW |
5 |
140,129,799 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7807:Mad1l1
|
UTSW |
5 |
140,074,541 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8147:Mad1l1
|
UTSW |
5 |
140,129,734 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8165:Mad1l1
|
UTSW |
5 |
140,300,813 (GRCm39) |
missense |
probably benign |
|
|
R8545:Mad1l1
|
UTSW |
5 |
140,286,249 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8694:Mad1l1
|
UTSW |
5 |
140,074,438 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8750:Mad1l1
|
UTSW |
5 |
140,300,822 (GRCm39) |
missense |
probably benign |
|
|
R8981:Mad1l1
|
UTSW |
5 |
140,300,813 (GRCm39) |
missense |
probably benign |
|
|
R9095:Mad1l1
|
UTSW |
5 |
140,288,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9232:Mad1l1
|
UTSW |
5 |
140,091,296 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9338:Mad1l1
|
UTSW |
5 |
140,074,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
U24488:Mad1l1
|
UTSW |
5 |
140,300,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0026:Mad1l1
|
UTSW |
5 |
139,994,960 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Mad1l1
|
UTSW |
5 |
140,091,337 (GRCm39) |
missense |
probably benign |
0.23 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACGGGTACATGCACTCTTC -3'
(R):5'- CAAATCCCTCAGAGTGGGAG -3'
Sequencing Primer
(F):5'- GGGTACATGCACTCTTCTTAGAAAAC -3'
(R):5'- TGGTATCCGGGTCTCCTGC -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation