Incidental Mutation 'R2471:Mad1l1'
| ID |
253078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mad1l1
|
| Ensembl Gene |
ENSMUSG00000029554 |
| Gene Name |
MAD1 mitotic arrest deficient 1-like 1 |
| Synonyms |
Mad1 |
| MMRRC Submission |
040403-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2471 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
139994444-140307307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 140247307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 340
(E340G)
|
| 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: E340G
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: E340G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAD
|
54 |
715 |
1.6e-272 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110829
AA Change: E340G
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554
AA Change: E340G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAD
|
2 |
511 |
2.5e-198 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132832
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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 |
|---|
| 4930563M21Rik |
A |
T |
9: 55,888,147 (GRCm39) |
M390K |
probably benign |
Het |
| Bicra |
A |
G |
7: 15,706,257 (GRCm39) |
S1395P |
probably benign |
Het |
| Cacnb2 |
G |
A |
2: 14,989,125 (GRCm39) |
D402N |
probably damaging |
Het |
| Csmd1 |
T |
A |
8: 16,261,776 (GRCm39) |
D907V |
probably damaging |
Het |
| Cstl1 |
T |
A |
2: 148,593,041 (GRCm39) |
Y65* |
probably null |
Het |
| Dnajc1 |
T |
C |
2: 18,224,627 (GRCm39) |
I213V |
possibly damaging |
Het |
| Emcn |
C |
T |
3: 137,109,772 (GRCm39) |
T138M |
probably damaging |
Het |
| F3 |
G |
T |
3: 121,518,689 (GRCm39) |
W51L |
probably damaging |
Het |
| Far2 |
A |
G |
6: 148,040,192 (GRCm39) |
Y41C |
probably damaging |
Het |
| Flrt1 |
A |
T |
19: 7,073,856 (GRCm39) |
D230E |
probably damaging |
Het |
| Gimap7 |
G |
A |
6: 48,700,986 (GRCm39) |
V191M |
probably damaging |
Het |
| Gm19402 |
A |
T |
10: 77,526,354 (GRCm39) |
|
probably benign |
Het |
| Ipo5 |
A |
C |
14: 121,159,574 (GRCm39) |
K134T |
probably benign |
Het |
| Kcnf1 |
T |
C |
12: 17,225,531 (GRCm39) |
E230G |
probably damaging |
Het |
| Map4k5 |
T |
C |
12: 69,903,620 (GRCm39) |
I62V |
probably benign |
Het |
| Marchf7 |
A |
G |
2: 60,067,244 (GRCm39) |
K588R |
possibly damaging |
Het |
| Mctp2 |
T |
A |
7: 71,810,909 (GRCm39) |
K52* |
probably null |
Het |
| Nr1h4 |
A |
T |
10: 89,309,756 (GRCm39) |
F310L |
probably damaging |
Het |
| Ofcc1 |
G |
A |
13: 40,250,501 (GRCm39) |
S605F |
probably damaging |
Het |
| Or2w1b |
A |
T |
13: 21,300,599 (GRCm39) |
T246S |
probably damaging |
Het |
| Or5ac25 |
A |
T |
16: 59,181,944 (GRCm39) |
S212R |
possibly damaging |
Het |
| Or5b97 |
G |
A |
19: 12,878,679 (GRCm39) |
T155I |
probably benign |
Het |
| Pcdh20 |
T |
G |
14: 88,704,672 (GRCm39) |
E876A |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,768,370 (GRCm39) |
A2215V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,210,327 (GRCm38) |
Y128H |
probably damaging |
Het |
| Sigirr |
A |
G |
7: 140,672,510 (GRCm39) |
L204S |
probably damaging |
Het |
| Slc2a12 |
A |
T |
10: 22,540,706 (GRCm39) |
Y187F |
probably damaging |
Het |
| Slc31a2 |
A |
T |
4: 62,214,312 (GRCm39) |
R86W |
probably null |
Het |
| Smc1b |
T |
C |
15: 84,976,218 (GRCm39) |
K830E |
probably damaging |
Het |
| Ssrp1 |
A |
G |
2: 84,872,642 (GRCm39) |
N427D |
possibly damaging |
Het |
| Taar9 |
A |
T |
10: 23,985,289 (GRCm39) |
F48L |
probably benign |
Het |
| Taok2 |
T |
C |
7: 126,474,272 (GRCm39) |
E319G |
probably damaging |
Het |
| Try10 |
T |
C |
6: 41,333,680 (GRCm39) |
S142P |
probably damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,655,644 (GRCm39) |
T626A |
probably benign |
Het |
| Zfp101 |
T |
C |
17: 33,599,950 (GRCm39) |
E602G |
possibly 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 |
|
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 |
|
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'- TAGCAGAGCTACACCCGAATAATG -3'
(R):5'- TGGGCTGCAGAGTGAACTTC -3'
Sequencing Primer
(F):5'- GTTCTTGAAAAGTATCCAGCCC -3'
(R):5'- GTGAACTTCCACAGACCTCTGAATTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation