Incidental Mutation 'R4682:Mad1l1'
| ID |
350075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mad1l1
|
| Ensembl Gene |
ENSMUSG00000029554 |
| Gene Name |
MAD1 mitotic arrest deficient 1-like 1 |
| Synonyms |
Mad1 |
| MMRRC Submission |
041934-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4682 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139994444-140307307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 140286007 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 296
(M296K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031534]
[ENSMUST00000110829]
|
| AlphaFold |
Q9WTX8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031534
AA Change: M296K
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: M296K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAD
|
54 |
715 |
1.6e-272 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110829
AA Change: M296K
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554
AA Change: M296K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAD
|
2 |
511 |
2.5e-198 |
PFAM |
|
| Meta Mutation Damage Score |
0.0645 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (45/48) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,505,925 (GRCm39) |
V637A |
probably benign |
Het |
| Aurkc |
G |
A |
7: 6,998,538 (GRCm39) |
V33M |
probably null |
Het |
| Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
T |
A |
13: 60,898,961 (GRCm39) |
S810R |
probably benign |
Het |
| Dpm2 |
C |
T |
2: 32,462,290 (GRCm39) |
|
probably benign |
Het |
| Fgb |
A |
T |
3: 82,950,572 (GRCm39) |
F394Y |
probably benign |
Het |
| Fry |
A |
G |
5: 150,346,219 (GRCm39) |
Y1576C |
probably damaging |
Het |
| Gabra4 |
T |
C |
5: 71,815,152 (GRCm39) |
M1V |
probably null |
Het |
| Grhl1 |
T |
G |
12: 24,658,432 (GRCm39) |
V359G |
probably benign |
Het |
| Hdac5 |
T |
C |
11: 102,097,456 (GRCm39) |
S158G |
probably null |
Het |
| Hdgfl1 |
T |
C |
13: 26,953,230 (GRCm39) |
E281G |
possibly damaging |
Het |
| Igfn1 |
T |
C |
1: 135,926,363 (GRCm39) |
E29G |
probably benign |
Het |
| Inpp1 |
T |
C |
1: 52,833,760 (GRCm39) |
N112S |
probably benign |
Het |
| Itih1 |
C |
A |
14: 30,659,800 (GRCm39) |
A279S |
probably damaging |
Het |
| Mark4 |
T |
C |
7: 19,179,097 (GRCm39) |
|
probably null |
Het |
| Mrpl48 |
T |
A |
7: 100,198,576 (GRCm39) |
D192V |
probably damaging |
Het |
| Myo1c |
C |
T |
11: 75,560,856 (GRCm39) |
R770* |
probably null |
Het |
| Nckap5 |
A |
T |
1: 126,030,279 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,108,879 (GRCm39) |
T731A |
noncoding transcript |
Het |
| Or4d6 |
T |
C |
19: 12,086,049 (GRCm39) |
Y287C |
probably damaging |
Het |
| Pcyt1b |
C |
A |
X: 92,789,970 (GRCm39) |
P318H |
probably damaging |
Het |
| Plekhm3 |
T |
C |
1: 64,977,086 (GRCm39) |
D128G |
possibly damaging |
Het |
| Ppp1r9a |
A |
G |
6: 4,905,477 (GRCm39) |
T11A |
possibly damaging |
Het |
| Rlig1 |
T |
C |
10: 100,414,243 (GRCm39) |
I139V |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,143,791 (GRCm39) |
Y112N |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,377,362 (GRCm39) |
V442E |
probably benign |
Het |
| Slc36a4 |
C |
A |
9: 15,638,144 (GRCm39) |
S190* |
probably null |
Het |
| Slc46a1 |
A |
G |
11: 78,359,502 (GRCm39) |
K378R |
possibly damaging |
Het |
| Snai2 |
T |
C |
16: 14,526,150 (GRCm39) |
V267A |
probably benign |
Het |
| Srrm2 |
T |
A |
17: 24,034,666 (GRCm39) |
S533T |
probably benign |
Het |
| St6galnac4 |
T |
A |
2: 32,484,111 (GRCm39) |
M103K |
probably damaging |
Het |
| Tap2 |
C |
A |
17: 34,433,006 (GRCm39) |
Y429* |
probably null |
Het |
| Traf7 |
T |
C |
17: 24,732,348 (GRCm39) |
K159E |
probably damaging |
Het |
| Zfp111 |
T |
G |
7: 23,898,563 (GRCm39) |
K349N |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,376 (GRCm39) |
Y1114C |
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 |
|
R4096:Mad1l1
|
UTSW |
5 |
140,293,428 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- GCTGACCAACTACAACGTGTAATG -3'
(R):5'- ACACTCATCTAAGGTGAGGGC -3'
Sequencing Primer
(F):5'- CTACAACGTGTAATGGAGAATCTC -3'
(R):5'- CACTCATCTAAGGTGAGGGCTCATG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation