Incidental Mutation 'R2277:Mamld1'
| ID |
242879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mamld1
|
| Ensembl Gene |
ENSMUSG00000059401 |
| Gene Name |
mastermind-like domain containing 1 |
| Synonyms |
G630014P10Rik |
| MMRRC Submission |
040276-MU
|
| Accession Numbers |
|
| Essential gene? |
Not available
|
| Stock # |
R2277 (G1)
|
| Quality Score |
107 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
70093846-70199662 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (1 aa in frame mutation) |
| DNA Base Change (assembly) |
ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA to ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA
at 70162421 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000082088]
[ENSMUST00000114629]
|
| AlphaFold |
P0C6A2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000082088
|
| SMART Domains |
Protein: ENSMUSP00000080737
Gene: ENSMUSG00000059401
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
363 |
414 |
3.74e-7 |
PROSPERO |
|
internal_repeat_1
|
418 |
466 |
3.74e-7 |
PROSPERO |
|
low complexity region
|
571 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
658 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114629
|
| SMART Domains |
Protein: ENSMUSP00000110276
Gene: ENSMUSG00000059401
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
153 |
163 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
257 |
N/A |
INTRINSIC |
|
low complexity region
|
310 |
341 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
362 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
363 |
414 |
2.31e-7 |
PROSPERO |
|
internal_repeat_1
|
418 |
466 |
2.31e-7 |
PROSPERO |
|
low complexity region
|
571 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
592 |
637 |
N/A |
INTRINSIC |
|
low complexity region
|
643 |
658 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Male mice exhibit normal male genitalia and fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd13d |
T |
C |
19: 4,331,012 (GRCm39) |
H165R |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,868,037 (GRCm39) |
I829V |
possibly damaging |
Het |
| Atxn1 |
T |
C |
13: 45,710,544 (GRCm39) |
N796S |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,197,838 (GRCm39) |
S849I |
probably benign |
Het |
| Bdp1 |
T |
A |
13: 100,197,847 (GRCm39) |
E846V |
probably damaging |
Het |
| Cdh4 |
C |
A |
2: 179,439,317 (GRCm39) |
H155N |
possibly damaging |
Het |
| Cela3a |
T |
C |
4: 137,133,187 (GRCm39) |
I62V |
possibly damaging |
Het |
| Cr2 |
T |
C |
1: 194,839,676 (GRCm39) |
R960G |
possibly damaging |
Het |
| Ddx42 |
T |
A |
11: 106,133,765 (GRCm39) |
D580E |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,987,387 (GRCm39) |
K1308E |
possibly damaging |
Het |
| Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
| Gh |
T |
C |
11: 106,191,613 (GRCm39) |
E143G |
probably damaging |
Het |
| Hcn3 |
C |
A |
3: 89,055,168 (GRCm39) |
R693L |
probably benign |
Het |
| Hdlbp |
G |
A |
1: 93,335,900 (GRCm39) |
R1199* |
probably null |
Het |
| Hook2 |
C |
T |
8: 85,729,560 (GRCm39) |
Q667* |
probably null |
Het |
| Ibtk |
T |
C |
9: 85,585,204 (GRCm39) |
I1147V |
probably benign |
Het |
| Itpk1 |
T |
C |
12: 102,536,519 (GRCm39) |
T376A |
probably benign |
Het |
| Lars1 |
C |
T |
18: 42,368,567 (GRCm39) |
V425I |
probably benign |
Het |
| Lgi4 |
T |
G |
7: 30,760,037 (GRCm39) |
L78V |
probably damaging |
Het |
| Madd |
A |
T |
2: 90,974,028 (GRCm39) |
C1419S |
possibly damaging |
Het |
| Mpp2 |
T |
C |
11: 101,955,127 (GRCm39) |
E166G |
probably damaging |
Het |
| Mrgprb5 |
A |
G |
7: 47,818,579 (GRCm39) |
L52P |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,331,128 (GRCm39) |
T423A |
probably benign |
Het |
| Nphs1 |
T |
A |
7: 30,166,989 (GRCm39) |
L732* |
probably null |
Het |
| Pcdhb10 |
T |
C |
18: 37,545,677 (GRCm39) |
I251T |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,597,725 (GRCm39) |
M789K |
possibly damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,168,417 (GRCm39) |
I896T |
probably benign |
Het |
| Ptpn4 |
T |
C |
1: 119,612,321 (GRCm39) |
D24G |
probably damaging |
Het |
| Rbm28 |
T |
C |
6: 29,135,513 (GRCm39) |
|
probably null |
Het |
| Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
| Rhebl1 |
A |
T |
15: 98,776,167 (GRCm39) |
D162E |
probably benign |
Het |
| Runx1t1 |
T |
C |
4: 13,771,501 (GRCm39) |
V15A |
probably benign |
Het |
| Serpina10 |
T |
A |
12: 103,593,002 (GRCm39) |
I291F |
probably benign |
Het |
| Slc23a2 |
A |
G |
2: 131,933,179 (GRCm39) |
I93T |
possibly damaging |
Het |
| Slc25a29 |
T |
C |
12: 108,792,852 (GRCm39) |
E242G |
probably benign |
Het |
| Sulf1 |
A |
C |
1: 12,867,018 (GRCm39) |
R67S |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,974,240 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Tmem45a |
A |
T |
16: 56,643,882 (GRCm39) |
L89Q |
probably damaging |
Het |
| Top3a |
A |
C |
11: 60,636,700 (GRCm39) |
V655G |
possibly damaging |
Het |
| Ttc23l |
A |
G |
15: 10,523,678 (GRCm39) |
I347T |
possibly damaging |
Het |
|
| Other mutations in Mamld1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02484:Mamld1
|
APN |
X |
70,162,258 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
FR4340:Mamld1
|
UTSW |
X |
70,162,452 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Mamld1
|
UTSW |
X |
70,162,445 (GRCm39) |
small insertion |
probably benign |
|
|
FR4737:Mamld1
|
UTSW |
X |
70,162,441 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Mamld1
|
UTSW |
X |
70,162,424 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Mamld1
|
UTSW |
X |
70,162,418 (GRCm39) |
small insertion |
probably benign |
|
|
R2133:Mamld1
|
UTSW |
X |
70,162,998 (GRCm39) |
missense |
probably benign |
0.00 |
|
RF003:Mamld1
|
UTSW |
X |
70,162,426 (GRCm39) |
small insertion |
probably benign |
|
|
RF004:Mamld1
|
UTSW |
X |
70,162,437 (GRCm39) |
nonsense |
probably null |
|
|
RF014:Mamld1
|
UTSW |
X |
70,162,451 (GRCm39) |
small insertion |
probably benign |
|
|
RF015:Mamld1
|
UTSW |
X |
70,162,447 (GRCm39) |
small insertion |
probably benign |
|
|
RF015:Mamld1
|
UTSW |
X |
70,162,426 (GRCm39) |
small insertion |
probably benign |
|
|
RF018:Mamld1
|
UTSW |
X |
70,162,455 (GRCm39) |
small insertion |
probably benign |
|
|
RF022:Mamld1
|
UTSW |
X |
70,162,426 (GRCm39) |
small insertion |
probably benign |
|
|
RF025:Mamld1
|
UTSW |
X |
70,162,432 (GRCm39) |
small insertion |
probably benign |
|
|
RF030:Mamld1
|
UTSW |
X |
70,162,434 (GRCm39) |
nonsense |
probably null |
|
|
RF033:Mamld1
|
UTSW |
X |
70,162,439 (GRCm39) |
small insertion |
probably benign |
|
|
RF034:Mamld1
|
UTSW |
X |
70,162,441 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Mamld1
|
UTSW |
X |
70,162,456 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Mamld1
|
UTSW |
X |
70,162,418 (GRCm39) |
small insertion |
probably benign |
|
|
RF035:Mamld1
|
UTSW |
X |
70,162,444 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Mamld1
|
UTSW |
X |
70,162,434 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Mamld1
|
UTSW |
X |
70,162,441 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Mamld1
|
UTSW |
X |
70,162,446 (GRCm39) |
small insertion |
probably benign |
|
|
RF038:Mamld1
|
UTSW |
X |
70,162,452 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Mamld1
|
UTSW |
X |
70,162,446 (GRCm39) |
small insertion |
probably benign |
|
|
RF039:Mamld1
|
UTSW |
X |
70,162,432 (GRCm39) |
small insertion |
probably benign |
|
|
RF040:Mamld1
|
UTSW |
X |
70,162,420 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Mamld1
|
UTSW |
X |
70,162,435 (GRCm39) |
small insertion |
probably benign |
|
|
RF041:Mamld1
|
UTSW |
X |
70,162,432 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Mamld1
|
UTSW |
X |
70,162,459 (GRCm39) |
small insertion |
probably benign |
|
|
RF042:Mamld1
|
UTSW |
X |
70,162,418 (GRCm39) |
small insertion |
probably benign |
|
|
RF043:Mamld1
|
UTSW |
X |
70,162,441 (GRCm39) |
small insertion |
probably benign |
|
|
RF047:Mamld1
|
UTSW |
X |
70,162,445 (GRCm39) |
small insertion |
probably benign |
|
|
RF048:Mamld1
|
UTSW |
X |
70,162,458 (GRCm39) |
nonsense |
probably null |
|
|
RF049:Mamld1
|
UTSW |
X |
70,162,451 (GRCm39) |
small insertion |
probably benign |
|
|
RF049:Mamld1
|
UTSW |
X |
70,162,439 (GRCm39) |
small insertion |
probably benign |
|
|
RF053:Mamld1
|
UTSW |
X |
70,162,458 (GRCm39) |
small insertion |
probably benign |
|
|
RF055:Mamld1
|
UTSW |
X |
70,162,443 (GRCm39) |
small insertion |
probably benign |
|
|
RF059:Mamld1
|
UTSW |
X |
70,162,438 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Mamld1
|
UTSW |
X |
70,162,438 (GRCm39) |
small insertion |
probably benign |
|
|
RF060:Mamld1
|
UTSW |
X |
70,162,437 (GRCm39) |
nonsense |
probably null |
|
|
RF061:Mamld1
|
UTSW |
X |
70,162,456 (GRCm39) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCTCCATTCTTGCCAATC -3'
(R):5'- GTTGCTGAAGGTAAAGGGCTC -3'
Sequencing Primer
(F):5'- GGTGTCCTCTAGTGTCAAAAGCC -3'
(R):5'- AAAGGGCTCAGGTGCTTC -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation