Incidental Mutation 'R6457:Malrd1'
| ID |
516504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Malrd1
|
| Ensembl Gene |
ENSMUSG00000075520 |
| Gene Name |
MAM and LDL receptor class A domain containing 1 |
| Synonyms |
Gm13364, Gm13318, Diet1 |
| MMRRC Submission |
044592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6457 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
15531290-16260366 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 15672740 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 599
(H599L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146205
AA Change: H599L
PolyPhen 2
Score 0.408 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: H599L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:MAM
|
8 |
171 |
1.6e-36 |
PFAM |
|
LDLa
|
181 |
219 |
6.89e-8 |
SMART |
|
LDLa
|
225 |
262 |
4.37e-10 |
SMART |
|
LDLa
|
264 |
303 |
9.55e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 137,772,383 (GRCm39) |
V524E |
probably damaging |
Het |
| Acer2 |
T |
A |
4: 86,818,808 (GRCm39) |
M152K |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,921,876 (GRCm39) |
D130G |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,577,983 (GRCm39) |
F211Y |
probably damaging |
Het |
| Ankfn1 |
C |
T |
11: 89,282,670 (GRCm39) |
A326T |
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 123,635,503 (GRCm39) |
R44C |
probably damaging |
Het |
| Ankrd46 |
A |
G |
15: 36,484,217 (GRCm39) |
|
probably benign |
Het |
| Aurkb |
G |
A |
11: 68,939,172 (GRCm39) |
E132K |
possibly damaging |
Het |
| Bsdc1 |
C |
T |
4: 129,359,069 (GRCm39) |
T9I |
possibly damaging |
Het |
| Card14 |
C |
T |
11: 119,230,428 (GRCm39) |
R767* |
probably null |
Het |
| Ccdc82 |
T |
A |
9: 13,272,745 (GRCm39) |
F411L |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,552,973 (GRCm39) |
G2106D |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,237,701 (GRCm39) |
|
probably benign |
Het |
| Cox10 |
A |
G |
11: 63,855,198 (GRCm39) |
L361P |
probably damaging |
Het |
| Cox18 |
A |
G |
5: 90,371,548 (GRCm39) |
I84T |
probably benign |
Het |
| Dhrs3 |
T |
C |
4: 144,646,522 (GRCm39) |
S125P |
probably damaging |
Het |
| Fbxl15 |
A |
G |
19: 46,317,765 (GRCm39) |
H149R |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,127,789 (GRCm39) |
S2234T |
unknown |
Het |
| Gtf2e1 |
A |
C |
16: 37,356,698 (GRCm39) |
|
probably null |
Het |
| H2-Q7 |
A |
T |
17: 35,658,655 (GRCm39) |
S98C |
probably damaging |
Het |
| Hcn2 |
G |
T |
10: 79,569,607 (GRCm39) |
E536* |
probably null |
Het |
| Kat6b |
A |
T |
14: 21,720,748 (GRCm39) |
H1700L |
probably damaging |
Het |
| Klhl3 |
C |
T |
13: 58,248,192 (GRCm39) |
V35I |
probably benign |
Het |
| Krt34 |
A |
T |
11: 99,930,916 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,416,663 (GRCm39) |
S644P |
probably damaging |
Het |
| Magi1 |
A |
T |
6: 93,676,620 (GRCm39) |
V685E |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,426,380 (GRCm39) |
C631S |
probably damaging |
Het |
| Megf8 |
A |
T |
7: 25,049,120 (GRCm39) |
D1739V |
probably damaging |
Het |
| Mlf1 |
G |
A |
3: 67,300,277 (GRCm39) |
R98Q |
probably benign |
Het |
| Mprip |
T |
A |
11: 59,649,815 (GRCm39) |
I1173K |
possibly damaging |
Het |
| Mrc1 |
A |
G |
2: 14,275,016 (GRCm39) |
D439G |
probably damaging |
Het |
| Mroh5 |
A |
T |
15: 73,662,691 (GRCm39) |
W208R |
probably damaging |
Het |
| Ms4a5 |
T |
G |
19: 11,256,646 (GRCm39) |
I84L |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,405,218 (GRCm39) |
|
probably null |
Het |
| Nbea |
T |
A |
3: 55,907,990 (GRCm39) |
H1374L |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,292,633 (GRCm39) |
I1095K |
probably benign |
Het |
| Nolc1 |
A |
G |
19: 46,071,509 (GRCm39) |
|
probably benign |
Het |
| Nr5a2 |
A |
G |
1: 136,887,976 (GRCm39) |
L18P |
probably benign |
Het |
| Nup188 |
G |
T |
2: 30,212,199 (GRCm39) |
C562F |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,971,597 (GRCm39) |
V2415A |
probably damaging |
Het |
| Pacsin2 |
A |
T |
15: 83,263,879 (GRCm39) |
|
probably null |
Het |
| Pias3 |
A |
G |
3: 96,606,839 (GRCm39) |
H34R |
possibly damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,729,361 (GRCm39) |
V903A |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,123,275 (GRCm39) |
L84Q |
probably damaging |
Het |
| Pramel6 |
G |
A |
2: 87,339,782 (GRCm39) |
C182Y |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,743,896 (GRCm39) |
Y120H |
probably damaging |
Het |
| Prss28 |
A |
G |
17: 25,530,331 (GRCm39) |
M212V |
probably benign |
Het |
| Rbp3 |
G |
T |
14: 33,677,224 (GRCm39) |
G391* |
probably null |
Het |
| Rc3h2 |
C |
T |
2: 37,301,151 (GRCm39) |
|
probably null |
Het |
| Ret |
A |
G |
6: 118,150,582 (GRCm39) |
F645L |
probably benign |
Het |
| Saxo5 |
T |
C |
8: 3,529,268 (GRCm39) |
L251P |
probably damaging |
Het |
| Sgsm2 |
A |
G |
11: 74,755,995 (GRCm39) |
S402P |
possibly damaging |
Het |
| Shc3 |
T |
A |
13: 51,636,915 (GRCm39) |
|
probably null |
Het |
| Slc25a16 |
A |
G |
10: 62,776,938 (GRCm39) |
N246S |
probably benign |
Het |
| Snrpd1 |
T |
A |
18: 10,623,694 (GRCm39) |
H26Q |
probably benign |
Het |
| Thsd1 |
A |
G |
8: 22,733,363 (GRCm39) |
T137A |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,593,597 (GRCm39) |
H151L |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,957,209 (GRCm39) |
K1725N |
probably damaging |
Het |
| Tomm40l |
T |
A |
1: 171,048,161 (GRCm39) |
T147S |
probably damaging |
Het |
| Tomm6 |
G |
T |
17: 47,998,932 (GRCm39) |
|
probably benign |
Het |
| Trp53 |
G |
A |
11: 69,480,440 (GRCm39) |
C272Y |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,649,214 (GRCm39) |
V1492E |
probably benign |
Het |
| Tsen2 |
G |
A |
6: 115,536,592 (GRCm39) |
R116H |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,555,726 (GRCm39) |
F456S |
probably damaging |
Het |
| Vmn1r86 |
A |
T |
7: 12,836,279 (GRCm39) |
M199K |
possibly damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,317,378 (GRCm39) |
C120Y |
probably damaging |
Het |
|
| Other mutations in Malrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Malrd1
|
APN |
2 |
16,146,997 (GRCm39) |
splice site |
probably benign |
|
|
IGL01295:Malrd1
|
APN |
2 |
16,106,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01296:Malrd1
|
APN |
2 |
16,106,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01399:Malrd1
|
APN |
2 |
16,106,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01400:Malrd1
|
APN |
2 |
16,106,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01401:Malrd1
|
APN |
2 |
16,106,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01402:Malrd1
|
APN |
2 |
16,106,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01405:Malrd1
|
APN |
2 |
16,106,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01406:Malrd1
|
APN |
2 |
16,106,768 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02105:Malrd1
|
APN |
2 |
16,132,674 (GRCm39) |
missense |
unknown |
|
|
IGL02581:Malrd1
|
APN |
2 |
16,147,123 (GRCm39) |
nonsense |
probably null |
|
|
IGL03015:Malrd1
|
APN |
2 |
16,047,082 (GRCm39) |
missense |
unknown |
|
|
IGL03038:Malrd1
|
APN |
2 |
16,132,778 (GRCm39) |
missense |
unknown |
|
|
R1353:Malrd1
|
UTSW |
2 |
16,132,779 (GRCm39) |
missense |
unknown |
|
|
R1385:Malrd1
|
UTSW |
2 |
16,047,039 (GRCm39) |
missense |
unknown |
|
|
R2242:Malrd1
|
UTSW |
2 |
16,106,755 (GRCm39) |
missense |
unknown |
|
|
R2888:Malrd1
|
UTSW |
2 |
16,079,568 (GRCm39) |
missense |
unknown |
|
|
R4398:Malrd1
|
UTSW |
2 |
16,155,594 (GRCm39) |
missense |
unknown |
|
|
R4982:Malrd1
|
UTSW |
2 |
16,046,940 (GRCm39) |
missense |
probably benign |
0.29 |
|
R5148:Malrd1
|
UTSW |
2 |
16,147,037 (GRCm39) |
missense |
unknown |
|
|
R5195:Malrd1
|
UTSW |
2 |
16,155,621 (GRCm39) |
missense |
unknown |
|
|
R5828:Malrd1
|
UTSW |
2 |
15,531,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5892:Malrd1
|
UTSW |
2 |
15,619,078 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6034:Malrd1
|
UTSW |
2 |
15,850,137 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6034:Malrd1
|
UTSW |
2 |
15,850,137 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R6195:Malrd1
|
UTSW |
2 |
15,700,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6318:Malrd1
|
UTSW |
2 |
16,047,078 (GRCm39) |
missense |
unknown |
|
|
R6438:Malrd1
|
UTSW |
2 |
15,619,017 (GRCm39) |
missense |
|
|
|
R6457:Malrd1
|
UTSW |
2 |
15,531,408 (GRCm39) |
start gained |
probably benign |
|
|
R6499:Malrd1
|
UTSW |
2 |
15,936,500 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6575:Malrd1
|
UTSW |
2 |
15,847,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6792:Malrd1
|
UTSW |
2 |
16,155,567 (GRCm39) |
missense |
unknown |
|
|
R6796:Malrd1
|
UTSW |
2 |
15,874,595 (GRCm39) |
missense |
unknown |
|
|
R6930:Malrd1
|
UTSW |
2 |
15,802,478 (GRCm39) |
missense |
unknown |
|
|
R6959:Malrd1
|
UTSW |
2 |
16,222,820 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6993:Malrd1
|
UTSW |
2 |
16,155,602 (GRCm39) |
missense |
unknown |
|
|
R7102:Malrd1
|
UTSW |
2 |
16,147,114 (GRCm39) |
missense |
unknown |
|
|
R7112:Malrd1
|
UTSW |
2 |
15,929,987 (GRCm39) |
missense |
unknown |
|
|
R7248:Malrd1
|
UTSW |
2 |
16,106,722 (GRCm39) |
missense |
unknown |
|
|
R7249:Malrd1
|
UTSW |
2 |
15,628,151 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7334:Malrd1
|
UTSW |
2 |
16,011,529 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7394:Malrd1
|
UTSW |
2 |
15,700,010 (GRCm39) |
missense |
unknown |
|
|
R7399:Malrd1
|
UTSW |
2 |
15,614,901 (GRCm39) |
missense |
|
|
|
R7476:Malrd1
|
UTSW |
2 |
16,147,115 (GRCm39) |
missense |
unknown |
|
|
R7582:Malrd1
|
UTSW |
2 |
15,700,081 (GRCm39) |
missense |
unknown |
|
|
R7604:Malrd1
|
UTSW |
2 |
15,930,003 (GRCm39) |
missense |
unknown |
|
|
R7662:Malrd1
|
UTSW |
2 |
15,876,265 (GRCm39) |
missense |
unknown |
|
|
R7681:Malrd1
|
UTSW |
2 |
16,222,913 (GRCm39) |
missense |
unknown |
|
|
R7740:Malrd1
|
UTSW |
2 |
15,619,026 (GRCm39) |
missense |
not run |
|
|
R7747:Malrd1
|
UTSW |
2 |
16,079,646 (GRCm39) |
missense |
unknown |
|
|
R7754:Malrd1
|
UTSW |
2 |
15,802,610 (GRCm39) |
splice site |
probably null |
|
|
R7950:Malrd1
|
UTSW |
2 |
16,132,879 (GRCm39) |
missense |
unknown |
|
|
R8194:Malrd1
|
UTSW |
2 |
15,929,931 (GRCm39) |
missense |
unknown |
|
|
R8260:Malrd1
|
UTSW |
2 |
15,619,017 (GRCm39) |
missense |
|
|
|
R8314:Malrd1
|
UTSW |
2 |
15,757,643 (GRCm39) |
missense |
unknown |
|
|
R8342:Malrd1
|
UTSW |
2 |
15,638,035 (GRCm39) |
missense |
unknown |
|
|
R8386:Malrd1
|
UTSW |
2 |
15,701,655 (GRCm39) |
missense |
unknown |
|
|
R8492:Malrd1
|
UTSW |
2 |
15,614,934 (GRCm39) |
missense |
|
|
|
R8728:Malrd1
|
UTSW |
2 |
15,701,753 (GRCm39) |
nonsense |
probably null |
|
|
R8756:Malrd1
|
UTSW |
2 |
15,757,706 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8869:Malrd1
|
UTSW |
2 |
15,570,368 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8888:Malrd1
|
UTSW |
2 |
15,850,038 (GRCm39) |
missense |
unknown |
|
|
R8895:Malrd1
|
UTSW |
2 |
15,850,038 (GRCm39) |
missense |
unknown |
|
|
R8902:Malrd1
|
UTSW |
2 |
16,260,145 (GRCm39) |
nonsense |
probably null |
|
|
R8954:Malrd1
|
UTSW |
2 |
15,556,178 (GRCm39) |
missense |
|
|
|
R8960:Malrd1
|
UTSW |
2 |
15,570,241 (GRCm39) |
nonsense |
probably null |
|
|
R9005:Malrd1
|
UTSW |
2 |
15,850,140 (GRCm39) |
missense |
unknown |
|
|
R9135:Malrd1
|
UTSW |
2 |
15,802,516 (GRCm39) |
missense |
unknown |
|
|
R9267:Malrd1
|
UTSW |
2 |
16,260,077 (GRCm39) |
missense |
unknown |
|
|
R9330:Malrd1
|
UTSW |
2 |
16,260,089 (GRCm39) |
missense |
unknown |
|
|
R9359:Malrd1
|
UTSW |
2 |
15,618,988 (GRCm39) |
missense |
|
|
|
R9383:Malrd1
|
UTSW |
2 |
15,700,012 (GRCm39) |
missense |
unknown |
|
|
R9389:Malrd1
|
UTSW |
2 |
15,707,967 (GRCm39) |
missense |
unknown |
|
|
R9403:Malrd1
|
UTSW |
2 |
15,618,988 (GRCm39) |
missense |
|
|
|
R9454:Malrd1
|
UTSW |
2 |
15,802,537 (GRCm39) |
nonsense |
probably null |
|
|
R9454:Malrd1
|
UTSW |
2 |
15,757,660 (GRCm39) |
missense |
unknown |
|
|
R9520:Malrd1
|
UTSW |
2 |
16,079,631 (GRCm39) |
missense |
unknown |
|
|
R9544:Malrd1
|
UTSW |
2 |
15,640,809 (GRCm39) |
missense |
unknown |
|
|
R9609:Malrd1
|
UTSW |
2 |
15,700,081 (GRCm39) |
missense |
unknown |
|
|
R9667:Malrd1
|
UTSW |
2 |
15,570,026 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9721:Malrd1
|
UTSW |
2 |
15,701,638 (GRCm39) |
missense |
unknown |
|
|
R9787:Malrd1
|
UTSW |
2 |
15,625,401 (GRCm39) |
missense |
unknown |
|
|
R9800:Malrd1
|
UTSW |
2 |
15,847,405 (GRCm39) |
missense |
unknown |
|
|
Z1176:Malrd1
|
UTSW |
2 |
16,222,656 (GRCm39) |
missense |
unknown |
|
|
Z1191:Malrd1
|
UTSW |
2 |
16,047,037 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTCAGGTCATAACAGTTTTC -3'
(R):5'- ACTGAGAAGTGTGCTAGTGAC -3'
Sequencing Primer
(F):5'- GAACAGGTGTAAAAGAGTTTCT -3'
(R):5'- GTGTGCTAGTGACAAAAATCAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation