Incidental Mutation 'R0738:Mad1l1'
| ID |
70566 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mad1l1
|
| Ensembl Gene |
ENSMUSG00000029554 |
| Gene Name |
MAD1 mitotic arrest deficient 1-like 1 |
| Synonyms |
Mad1 |
| MMRRC Submission |
038919-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0738 (G1)
|
| Quality Score |
93 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
139994444-140307307 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 140286315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 228
(L228P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106453
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031534]
[ENSMUST00000110829]
|
| AlphaFold |
Q9WTX8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031534
AA Change: L228P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031534
Gene: ENSMUSG00000029554
AA Change: L228P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAD
|
54 |
715 |
1.6e-272 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110829
AA Change: L228P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106453
Gene: ENSMUSG00000029554
AA Change: L228P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAD
|
2 |
511 |
2.5e-198 |
PFAM |
|
| Meta Mutation Damage Score |
0.5163 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.3%
|
| Validation Efficiency |
98% (46/47) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
A |
T |
5: 99,388,812 (GRCm39) |
M189K |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,604,130 (GRCm39) |
E964D |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,778,302 (GRCm39) |
|
probably benign |
Het |
| Cd9 |
G |
T |
6: 125,439,103 (GRCm39) |
Q169K |
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,827,027 (GRCm39) |
|
probably benign |
Het |
| Ch25h |
T |
C |
19: 34,451,787 (GRCm39) |
N247S |
possibly damaging |
Het |
| Dctn1 |
T |
C |
6: 83,167,089 (GRCm39) |
|
probably null |
Het |
| Defa22 |
C |
T |
8: 21,652,391 (GRCm39) |
T19I |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,620,981 (GRCm39) |
N576D |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,415,975 (GRCm39) |
M675V |
probably damaging |
Het |
| Fam241a |
C |
A |
3: 127,664,442 (GRCm39) |
A120S |
possibly damaging |
Het |
| Fkbp8 |
T |
A |
8: 70,982,320 (GRCm39) |
I86N |
probably damaging |
Het |
| Herc4 |
C |
T |
10: 63,124,928 (GRCm39) |
P514L |
possibly damaging |
Het |
| Ide |
A |
T |
19: 37,255,364 (GRCm39) |
L813* |
probably null |
Het |
| Igkv12-41 |
G |
A |
6: 69,835,675 (GRCm39) |
Q26* |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,685,681 (GRCm39) |
V483A |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,490,438 (GRCm39) |
I1002N |
probably benign |
Het |
| Lrfn5 |
G |
T |
12: 61,887,378 (GRCm39) |
E389* |
probably null |
Het |
| Lrp6 |
G |
T |
6: 134,519,008 (GRCm39) |
A19E |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,464,348 (GRCm39) |
|
probably benign |
Het |
| Med13l |
T |
A |
5: 118,889,698 (GRCm39) |
Y1820N |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,731,869 (GRCm39) |
N735S |
probably benign |
Het |
| Mid2 |
A |
G |
X: 139,664,425 (GRCm39) |
Y618C |
probably damaging |
Het |
| Mllt11 |
G |
A |
3: 95,127,597 (GRCm39) |
Q58* |
probably null |
Het |
| Mttp |
A |
G |
3: 137,809,074 (GRCm39) |
V678A |
probably damaging |
Het |
| Nfatc1 |
A |
G |
18: 80,741,125 (GRCm39) |
S278P |
probably damaging |
Het |
| Ninj2 |
A |
G |
6: 120,175,098 (GRCm39) |
|
probably benign |
Het |
| Nsd3 |
T |
A |
8: 26,168,725 (GRCm39) |
|
probably null |
Het |
| Or5b102 |
A |
T |
19: 13,041,102 (GRCm39) |
E109V |
probably damaging |
Het |
| Or8c17 |
T |
C |
9: 38,180,421 (GRCm39) |
V204A |
possibly damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,764 (GRCm39) |
N358S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,609,974 (GRCm39) |
|
probably benign |
Het |
| Popdc3 |
T |
C |
10: 45,191,354 (GRCm39) |
L155P |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm26 |
A |
T |
14: 105,414,218 (GRCm39) |
I24N |
unknown |
Het |
| Rc3h2 |
T |
A |
2: 37,295,386 (GRCm39) |
D210V |
probably damaging |
Het |
| Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
| Spopl |
T |
C |
2: 23,427,533 (GRCm39) |
T200A |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,165,540 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
T |
A |
2: 21,218,173 (GRCm39) |
H121Q |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,554,984 (GRCm39) |
D233G |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,200,661 (GRCm39) |
V432E |
possibly damaging |
Het |
| Wdr5 |
T |
C |
2: 27,409,424 (GRCm39) |
S49P |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,342,308 (GRCm39) |
I46N |
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 |
|
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 |
|
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'- CCTTTTCCAACTCCAGGTCAACCAG -3'
(R):5'- AGCAGGTTCCCTAGCTTCTGACAC -3'
Sequencing Primer
(F):5'- TCTGTGAGCAGCCCATTG -3'
(R):5'- tagcttcTGACACCTCCATTTTTTTG -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation