Incidental Mutation 'R6318:Malrd1'
| ID |
510259 |
| 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 |
044473-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R6318 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
15531290-16260366 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 16047078 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 1735
(S1735A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000146205
AA Change: S1735A
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: S1735A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,270,474 (GRCm39) |
T13A |
possibly damaging |
Het |
| Abcg4 |
T |
C |
9: 44,186,645 (GRCm39) |
T500A |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,006,681 (GRCm39) |
I1051F |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,343,241 (GRCm39) |
N235K |
probably benign |
Het |
| Aldh3a2 |
A |
C |
11: 61,153,245 (GRCm39) |
Y160* |
probably null |
Het |
| Arhgef4 |
G |
A |
1: 34,762,558 (GRCm39) |
A605T |
unknown |
Het |
| Armt1 |
T |
C |
10: 4,400,859 (GRCm39) |
M202T |
probably benign |
Het |
| Brd2 |
C |
A |
17: 34,331,872 (GRCm39) |
V349F |
probably damaging |
Het |
| Btnl10 |
A |
T |
11: 58,817,691 (GRCm39) |
|
probably benign |
Het |
| Ccdc178 |
A |
G |
18: 22,253,591 (GRCm39) |
V216A |
possibly damaging |
Het |
| Ccdc85c |
A |
T |
12: 108,240,968 (GRCm39) |
L142Q |
unknown |
Het |
| Cdc27 |
A |
T |
11: 104,419,520 (GRCm39) |
S172T |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,548,237 (GRCm39) |
I109T |
probably damaging |
Het |
| Ces5a |
C |
T |
8: 94,261,211 (GRCm39) |
G72E |
probably damaging |
Het |
| Cfb |
A |
G |
17: 35,080,800 (GRCm39) |
Y66H |
possibly damaging |
Het |
| Clec14a |
G |
A |
12: 58,315,001 (GRCm39) |
P207L |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,448,652 (GRCm39) |
R599H |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,953,212 (GRCm39) |
I3423N |
probably damaging |
Het |
| Cyp4a29 |
C |
A |
4: 115,107,396 (GRCm39) |
N243K |
probably benign |
Het |
| Ddx59 |
T |
C |
1: 136,344,610 (GRCm39) |
F94L |
probably damaging |
Het |
| Dusp3 |
A |
C |
11: 101,877,697 (GRCm39) |
V19G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,828,280 (GRCm39) |
|
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,313,921 (GRCm39) |
V545E |
probably damaging |
Het |
| Fxn |
G |
T |
19: 24,257,790 (GRCm39) |
A47D |
probably damaging |
Het |
| Gdpgp1 |
A |
T |
7: 79,888,898 (GRCm39) |
I310F |
possibly damaging |
Het |
| Gm7210 |
A |
T |
7: 11,328,040 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
G |
T |
6: 111,335,836 (GRCm39) |
C749F |
probably damaging |
Het |
| Hps4 |
T |
G |
5: 112,494,495 (GRCm39) |
V26G |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,814,981 (GRCm39) |
D294G |
probably benign |
Het |
| Immp1l |
T |
C |
2: 105,761,172 (GRCm39) |
F27S |
probably benign |
Het |
| Kcnk3 |
T |
A |
5: 30,779,930 (GRCm39) |
C327S |
probably damaging |
Het |
| Kif13a |
T |
A |
13: 46,968,683 (GRCm39) |
|
probably null |
Het |
| Krtap5-4 |
T |
C |
7: 141,857,827 (GRCm39) |
S166P |
unknown |
Het |
| Lyst |
G |
A |
13: 13,917,896 (GRCm39) |
D3319N |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,134,268 (GRCm39) |
T308A |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,190,167 (GRCm39) |
Q1269L |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,781,657 (GRCm39) |
V1367I |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 105,250,269 (GRCm39) |
D208G |
probably benign |
Het |
| Nelfe |
T |
A |
17: 35,073,432 (GRCm39) |
V296D |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,518,761 (GRCm39) |
R284G |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,109,374 (GRCm39) |
V734E |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,299,390 (GRCm39) |
N752S |
probably damaging |
Het |
| Or11i1 |
T |
C |
3: 106,729,503 (GRCm39) |
D124G |
probably damaging |
Het |
| Or3a1b |
A |
T |
11: 74,012,547 (GRCm39) |
Q144L |
possibly damaging |
Het |
| Or5t9 |
A |
G |
2: 86,659,998 (GRCm39) |
I301V |
possibly damaging |
Het |
| Or8b1 |
T |
C |
9: 38,399,673 (GRCm39) |
M116T |
probably benign |
Het |
| Otof |
C |
A |
5: 30,571,888 (GRCm39) |
G171V |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 21,006,939 (GRCm39) |
V208D |
probably damaging |
Het |
| Pkn1 |
T |
A |
8: 84,410,220 (GRCm39) |
T340S |
probably damaging |
Het |
| Plcd4 |
C |
T |
1: 74,602,753 (GRCm39) |
L668F |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,688,811 (GRCm39) |
W131* |
probably null |
Het |
| Prss50 |
A |
T |
9: 110,690,367 (GRCm39) |
D170V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,237,118 (GRCm38) |
V604A |
probably damaging |
Het |
| Rab33b |
T |
C |
3: 51,400,826 (GRCm39) |
V100A |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,368,971 (GRCm39) |
D736V |
probably damaging |
Het |
| Rela |
C |
A |
19: 5,696,992 (GRCm39) |
P400T |
probably benign |
Het |
| Rpusd4 |
T |
C |
9: 35,179,334 (GRCm39) |
L50P |
probably damaging |
Het |
| Scn10a |
A |
C |
9: 119,456,181 (GRCm39) |
Y1214D |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,877,430 (GRCm39) |
E179G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,374,330 (GRCm39) |
D1253V |
unknown |
Het |
| Sp4 |
G |
T |
12: 118,201,913 (GRCm39) |
P771H |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,256,099 (GRCm39) |
Y263F |
probably damaging |
Het |
| Ssbp1 |
G |
A |
6: 40,453,687 (GRCm39) |
V78I |
probably benign |
Het |
| St3gal6 |
A |
G |
16: 58,306,769 (GRCm39) |
I87T |
probably benign |
Het |
| Tango6 |
T |
A |
8: 107,545,129 (GRCm39) |
D997E |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,321,639 (GRCm39) |
P2265S |
possibly damaging |
Het |
| Ttc7b |
A |
T |
12: 100,291,936 (GRCm39) |
F212Y |
probably damaging |
Het |
| Ubc |
A |
G |
5: 125,465,324 (GRCm39) |
M1T |
probably null |
Het |
| Vill |
G |
C |
9: 118,892,716 (GRCm39) |
Q376H |
probably benign |
Het |
| Yes1 |
T |
C |
5: 32,809,030 (GRCm39) |
I132T |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,993,444 (GRCm39) |
T830A |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,358,044 (GRCm39) |
F451I |
possibly damaging |
Het |
| Zfp995 |
C |
T |
17: 22,099,493 (GRCm39) |
C247Y |
probably benign |
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 |
|
R6438:Malrd1
|
UTSW |
2 |
15,619,017 (GRCm39) |
missense |
|
|
|
R6457:Malrd1
|
UTSW |
2 |
15,672,740 (GRCm39) |
missense |
probably benign |
0.41 |
|
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'- TATAGTGAGGCATAGAGTCTTGTAG -3'
(R):5'- AGAAATGTGATTCTGTCAGGAGC -3'
Sequencing Primer
(F):5'- AGACATTTTATGATGCTGGTGTGTAC -3'
(R):5'- GTGATTCTGTCAGGAGCTAATTAAAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation