Incidental Mutation 'R5450:Maml2'
| ID |
429284 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Maml2
|
| Ensembl Gene |
ENSMUSG00000031925 |
| Gene Name |
mastermind like transcriptional coactivator 2 |
| Synonyms |
|
| MMRRC Submission |
043015-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5450 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
13297957-13709388 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 13706467 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 370
(S370R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136866
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034401]
[ENSMUST00000159294]
[ENSMUST00000177755]
|
| AlphaFold |
F6U238 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034401
AA Change: S370R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000034401
Gene: ENSMUSG00000031925
AA Change: S370R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
163 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000159294
AA Change: S1126R
|
| SMART Domains |
Protein: ENSMUSP00000124083
Gene: ENSMUSG00000031925
AA Change: S1126R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
227 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
331 |
N/A |
INTRINSIC |
|
SCOP:d1lsha3
|
385 |
459 |
5e-3 |
SMART |
|
low complexity region
|
523 |
547 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
589 |
N/A |
INTRINSIC |
|
low complexity region
|
616 |
627 |
N/A |
INTRINSIC |
|
low complexity region
|
734 |
753 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161245
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177755
AA Change: S370R
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136866
Gene: ENSMUSG00000031925
AA Change: S370R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
144 |
163 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0644 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,426,349 (GRCm38) |
V173M |
probably damaging |
Het |
| AF067063 |
A |
T |
13: 119,828,363 (GRCm38) |
V99E |
probably damaging |
Het |
| Arhgef4 |
T |
G |
1: 34,807,324 (GRCm38) |
|
probably benign |
Het |
| Atg14 |
T |
C |
14: 47,551,464 (GRCm38) |
N144S |
probably benign |
Het |
| Cacna1h |
A |
T |
17: 25,383,186 (GRCm38) |
M1454K |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,446,068 (GRCm38) |
H138L |
possibly damaging |
Het |
| Ccdc129 |
T |
A |
6: 55,968,811 (GRCm38) |
|
probably null |
Het |
| Cd200r2 |
T |
A |
16: 44,909,571 (GRCm38) |
D159E |
probably benign |
Het |
| Cd79a |
G |
T |
7: 24,899,262 (GRCm38) |
G79C |
probably damaging |
Het |
| Ceacam20 |
A |
G |
7: 19,978,208 (GRCm38) |
H38R |
possibly damaging |
Het |
| Cers1 |
T |
C |
8: 70,318,297 (GRCm38) |
L119P |
probably damaging |
Het |
| Ces1f |
C |
A |
8: 93,265,795 (GRCm38) |
V343L |
probably benign |
Het |
| Ces3a |
G |
A |
8: 105,057,918 (GRCm38) |
G511S |
possibly damaging |
Het |
| Cyfip2 |
A |
G |
11: 46,284,252 (GRCm38) |
C98R |
probably benign |
Het |
| Cyp2j11 |
C |
A |
4: 96,339,876 (GRCm38) |
V169L |
probably benign |
Het |
| Cyp4f17 |
A |
G |
17: 32,528,886 (GRCm38) |
T523A |
probably benign |
Het |
| Ddx31 |
T |
C |
2: 28,886,969 (GRCm38) |
S567P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Het |
| Dsg1b |
A |
C |
18: 20,409,064 (GRCm38) |
H876P |
probably damaging |
Het |
| Edrf1 |
G |
T |
7: 133,658,610 (GRCm38) |
M83I |
probably damaging |
Het |
| Eno4 |
T |
C |
19: 58,960,247 (GRCm38) |
F393S |
possibly damaging |
Het |
| Eral1 |
C |
T |
11: 78,078,357 (GRCm38) |
D106N |
probably benign |
Het |
| Esp18 |
G |
T |
17: 39,408,179 (GRCm38) |
R23M |
probably benign |
Het |
| Fam184b |
C |
T |
5: 45,539,801 (GRCm38) |
V674I |
probably benign |
Het |
| Fbxw13 |
A |
C |
9: 109,184,157 (GRCm38) |
N154K |
probably benign |
Het |
| Gtpbp6 |
A |
G |
5: 110,107,125 (GRCm38) |
V130A |
probably damaging |
Het |
| Hc |
T |
C |
2: 35,013,038 (GRCm38) |
D1067G |
possibly damaging |
Het |
| Ighg1 |
A |
T |
12: 113,330,506 (GRCm38) |
S6T |
unknown |
Het |
| Ikzf3 |
C |
T |
11: 98,467,086 (GRCm38) |
R475H |
probably damaging |
Het |
| Kcmf1 |
A |
T |
6: 72,842,930 (GRCm38) |
L311* |
probably null |
Het |
| Kmt2d |
C |
A |
15: 98,855,086 (GRCm38) |
E184D |
probably damaging |
Het |
| Lrguk |
A |
T |
6: 34,071,061 (GRCm38) |
I314F |
probably damaging |
Het |
| Mroh1 |
C |
A |
15: 76,432,347 (GRCm38) |
|
probably benign |
Het |
| Mx1 |
A |
T |
16: 97,454,147 (GRCm38) |
Y235* |
probably null |
Het |
| Olfr1269 |
A |
G |
2: 90,118,669 (GRCm38) |
*310Q |
probably null |
Het |
| Pamr1 |
T |
G |
2: 102,639,317 (GRCm38) |
Y403D |
probably damaging |
Het |
| Panx2 |
A |
G |
15: 89,068,959 (GRCm38) |
E551G |
possibly damaging |
Het |
| Patl2 |
A |
G |
2: 122,125,281 (GRCm38) |
V258A |
probably benign |
Het |
| Ppm1m |
A |
G |
9: 106,196,842 (GRCm38) |
F255L |
probably benign |
Het |
| Prpf40a |
G |
T |
2: 53,156,926 (GRCm38) |
T266N |
possibly damaging |
Het |
| Psg18 |
T |
A |
7: 18,353,425 (GRCm38) |
I103F |
probably benign |
Het |
| Rpl39-ps |
A |
G |
15: 102,635,148 (GRCm38) |
|
noncoding transcript |
Het |
| Rps6kb1 |
A |
T |
11: 86,532,837 (GRCm38) |
F106I |
probably damaging |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,579,908 (GRCm38) |
|
probably benign |
Het |
| Sardh |
G |
T |
2: 27,239,698 (GRCm38) |
T245K |
possibly damaging |
Het |
| Shprh |
T |
G |
10: 11,212,330 (GRCm38) |
I1619S |
possibly damaging |
Het |
| Skint1 |
G |
A |
4: 112,025,532 (GRCm38) |
V258I |
probably benign |
Het |
| Slc27a5 |
T |
C |
7: 12,994,942 (GRCm38) |
D331G |
probably benign |
Het |
| Slc29a2 |
A |
G |
19: 5,029,275 (GRCm38) |
I309V |
probably benign |
Het |
| Slc30a5 |
C |
T |
13: 100,821,172 (GRCm38) |
V130I |
possibly damaging |
Het |
| Slc4a3 |
C |
A |
1: 75,552,656 (GRCm38) |
A531D |
probably damaging |
Het |
| Slc6a16 |
C |
T |
7: 45,261,248 (GRCm38) |
T399I |
probably benign |
Het |
| Slitrk6 |
T |
A |
14: 110,750,097 (GRCm38) |
H726L |
probably benign |
Het |
| Snx2 |
A |
G |
18: 53,210,712 (GRCm38) |
K309R |
probably damaging |
Het |
| Speer4f2 |
T |
A |
5: 17,373,219 (GRCm38) |
C4S |
possibly damaging |
Het |
| Sulf1 |
T |
C |
1: 12,796,907 (GRCm38) |
V105A |
probably benign |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm38) |
V208I |
probably benign |
Het |
| Vmn1r47 |
T |
C |
6: 90,022,213 (GRCm38) |
L109P |
probably damaging |
Het |
| Vmn1r73 |
C |
A |
7: 11,756,449 (GRCm38) |
Q65K |
possibly damaging |
Het |
| Vmn1r76 |
T |
C |
7: 11,930,684 (GRCm38) |
Y166C |
probably damaging |
Het |
| Vmn2r2 |
T |
C |
3: 64,126,590 (GRCm38) |
T504A |
probably benign |
Het |
| Wdr75 |
C |
A |
1: 45,812,164 (GRCm38) |
A300E |
probably benign |
Het |
| Yars |
A |
G |
4: 129,197,246 (GRCm38) |
E149G |
possibly damaging |
Het |
| Zbtb18 |
T |
C |
1: 177,447,205 (GRCm38) |
F35L |
probably damaging |
Het |
| Zfp366 |
A |
G |
13: 99,229,585 (GRCm38) |
Y418C |
probably damaging |
Het |
|
| Other mutations in Maml2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Maml2
|
APN |
9 |
13,621,604 (GRCm38) |
unclassified |
probably benign |
|
|
IGL00424:Maml2
|
APN |
9 |
13,620,912 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02711:Maml2
|
APN |
9 |
13,620,063 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL03079:Maml2
|
APN |
9 |
13,621,616 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03217:Maml2
|
APN |
9 |
13,619,999 (GRCm38) |
missense |
probably damaging |
1.00 |
|
FR4304:Maml2
|
UTSW |
9 |
13,621,459 (GRCm38) |
small deletion |
probably benign |
|
|
FR4449:Maml2
|
UTSW |
9 |
13,621,456 (GRCm38) |
small deletion |
probably benign |
|
|
PIT4810001:Maml2
|
UTSW |
9 |
13,620,024 (GRCm38) |
missense |
|
|
|
R0102:Maml2
|
UTSW |
9 |
13,705,932 (GRCm38) |
synonymous |
silent |
|
|
R0318:Maml2
|
UTSW |
9 |
13,620,594 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0380:Maml2
|
UTSW |
9 |
13,621,100 (GRCm38) |
nonsense |
probably null |
|
|
R1433:Maml2
|
UTSW |
9 |
13,706,501 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1449:Maml2
|
UTSW |
9 |
13,620,684 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R1789:Maml2
|
UTSW |
9 |
13,697,345 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2173:Maml2
|
UTSW |
9 |
13,621,616 (GRCm38) |
unclassified |
probably benign |
|
|
R2363:Maml2
|
UTSW |
9 |
13,621,245 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2426:Maml2
|
UTSW |
9 |
13,706,498 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2880:Maml2
|
UTSW |
9 |
13,620,597 (GRCm38) |
splice site |
probably null |
|
|
R3981:Maml2
|
UTSW |
9 |
13,621,068 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R4094:Maml2
|
UTSW |
9 |
13,620,153 (GRCm38) |
missense |
probably benign |
0.22 |
|
R4117:Maml2
|
UTSW |
9 |
13,705,934 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4282:Maml2
|
UTSW |
9 |
13,620,110 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R4618:Maml2
|
UTSW |
9 |
13,620,075 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4921:Maml2
|
UTSW |
9 |
13,621,175 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4957:Maml2
|
UTSW |
9 |
13,620,276 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5195:Maml2
|
UTSW |
9 |
13,621,114 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5428:Maml2
|
UTSW |
9 |
13,705,895 (GRCm38) |
missense |
probably benign |
0.30 |
|
R5448:Maml2
|
UTSW |
9 |
13,706,467 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5455:Maml2
|
UTSW |
9 |
13,705,743 (GRCm38) |
nonsense |
probably null |
|
|
R5620:Maml2
|
UTSW |
9 |
13,697,320 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5973:Maml2
|
UTSW |
9 |
13,621,619 (GRCm38) |
unclassified |
probably benign |
|
|
R6009:Maml2
|
UTSW |
9 |
13,620,998 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6054:Maml2
|
UTSW |
9 |
13,621,399 (GRCm38) |
small deletion |
probably benign |
|
|
R6257:Maml2
|
UTSW |
9 |
13,620,426 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6727:Maml2
|
UTSW |
9 |
13,621,551 (GRCm38) |
unclassified |
probably benign |
|
|
R6824:Maml2
|
UTSW |
9 |
13,697,217 (GRCm38) |
missense |
possibly damaging |
0.67 |
|
R6854:Maml2
|
UTSW |
9 |
13,705,835 (GRCm38) |
missense |
possibly damaging |
0.59 |
|
R6998:Maml2
|
UTSW |
9 |
13,621,185 (GRCm38) |
unclassified |
probably benign |
|
|
R7047:Maml2
|
UTSW |
9 |
13,620,881 (GRCm38) |
unclassified |
probably benign |
|
|
R7233:Maml2
|
UTSW |
9 |
13,620,771 (GRCm38) |
missense |
|
|
|
R7326:Maml2
|
UTSW |
9 |
13,621,607 (GRCm38) |
missense |
|
|
|
R7612:Maml2
|
UTSW |
9 |
13,706,485 (GRCm38) |
missense |
probably benign |
0.04 |
|
R7652:Maml2
|
UTSW |
9 |
13,621,649 (GRCm38) |
missense |
|
|
|
R7699:Maml2
|
UTSW |
9 |
13,621,089 (GRCm38) |
missense |
|
|
|
R7700:Maml2
|
UTSW |
9 |
13,621,089 (GRCm38) |
missense |
|
|
|
R7803:Maml2
|
UTSW |
9 |
13,621,276 (GRCm38) |
small insertion |
probably benign |
|
|
R7803:Maml2
|
UTSW |
9 |
13,621,275 (GRCm38) |
small insertion |
probably benign |
|
|
R7803:Maml2
|
UTSW |
9 |
13,621,254 (GRCm38) |
small insertion |
probably benign |
|
|
R8425:Maml2
|
UTSW |
9 |
13,620,117 (GRCm38) |
missense |
|
|
|
R8810:Maml2
|
UTSW |
9 |
13,621,622 (GRCm38) |
missense |
|
|
|
R9277:Maml2
|
UTSW |
9 |
13,620,576 (GRCm38) |
missense |
|
|
|
R9359:Maml2
|
UTSW |
9 |
13,621,673 (GRCm38) |
nonsense |
probably null |
|
|
R9403:Maml2
|
UTSW |
9 |
13,621,673 (GRCm38) |
nonsense |
probably null |
|
|
RF015:Maml2
|
UTSW |
9 |
13,621,456 (GRCm38) |
small deletion |
probably benign |
|
|
RF044:Maml2
|
UTSW |
9 |
13,621,456 (GRCm38) |
small deletion |
probably benign |
|
|
X0063:Maml2
|
UTSW |
9 |
13,620,341 (GRCm38) |
missense |
probably benign |
0.09 |
|
Z1177:Maml2
|
UTSW |
9 |
13,706,590 (GRCm38) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAAACCCTGGGTTCACTCAG -3'
(R):5'- TTGAAAAGCCCTGCTCAGAGC -3'
Sequencing Primer
(F):5'- TTCACTCAGGGGGTTGAACCTC -3'
(R):5'- AGAGCCTGCGGATCATCTTC -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation