Incidental Mutation 'R8314:Malrd1'
| ID |
641544 |
| 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 |
067719-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R8314 (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 A
at 15757643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 972
(D972E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000146205
AA Change: D972E
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: D972E
| 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: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
A |
9: 122,777,993 (GRCm39) |
T84S |
probably benign |
Het |
| 4930533K18Rik |
A |
G |
10: 70,711,106 (GRCm39) |
T76A |
noncoding transcript |
Het |
| Adgrl1 |
C |
T |
8: 84,665,018 (GRCm39) |
T1235I |
probably damaging |
Het |
| Ak4 |
C |
T |
4: 101,320,782 (GRCm39) |
T197M |
possibly damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,206,998 (GRCm39) |
M603V |
possibly damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,559,373 (GRCm39) |
I267N |
possibly damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,528,600 (GRCm39) |
I12N |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,385,814 (GRCm39) |
M520K |
probably damaging |
Het |
| B3galt5 |
T |
C |
16: 96,116,649 (GRCm39) |
L94P |
probably damaging |
Het |
| Birc2 |
T |
C |
9: 7,872,942 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,450,013 (GRCm39) |
S541G |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 99,898,011 (GRCm39) |
D434G |
probably damaging |
Het |
| Cdkn3 |
A |
T |
14: 47,007,330 (GRCm39) |
|
silent |
Het |
| Ciita |
A |
T |
16: 10,328,852 (GRCm39) |
R379W |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,065,155 (GRCm39) |
M2153K |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,208,258 (GRCm39) |
D1232E |
probably benign |
Het |
| Cyp4a30b |
A |
C |
4: 115,315,535 (GRCm39) |
H252P |
probably benign |
Het |
| Dad1 |
G |
A |
14: 54,491,269 (GRCm39) |
R11W |
probably damaging |
Het |
| Ddit3 |
A |
G |
10: 127,131,590 (GRCm39) |
|
probably null |
Het |
| Dusp22 |
G |
A |
13: 30,892,914 (GRCm39) |
|
probably benign |
Het |
| Dzank1 |
A |
G |
2: 144,344,878 (GRCm39) |
L293P |
probably damaging |
Het |
| Edf1 |
A |
G |
2: 25,447,977 (GRCm39) |
D5G |
probably damaging |
Het |
| Entrep3 |
T |
C |
3: 89,095,453 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
A |
5: 110,903,619 (GRCm39) |
M327L |
unknown |
Het |
| Fam135a |
A |
T |
1: 24,061,002 (GRCm39) |
H1341Q |
possibly damaging |
Het |
| Fbxl3 |
C |
T |
14: 103,326,876 (GRCm39) |
V169I |
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,425,909 (GRCm39) |
L83P |
probably damaging |
Het |
| Habp4 |
A |
G |
13: 64,332,565 (GRCm39) |
E392G |
probably damaging |
Het |
| Hspg2 |
C |
A |
4: 137,266,986 (GRCm39) |
P1997Q |
probably benign |
Het |
| Ints9 |
T |
C |
14: 65,266,479 (GRCm39) |
S444P |
probably damaging |
Het |
| Kif18b |
G |
A |
11: 102,803,900 (GRCm39) |
S420L |
probably benign |
Het |
| Klhl17 |
T |
A |
4: 156,318,470 (GRCm39) |
M51L |
probably benign |
Het |
| Kmt2b |
C |
T |
7: 30,278,347 (GRCm39) |
E1555K |
probably damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,748 (GRCm39) |
S805R |
probably benign |
Het |
| Mmp13 |
G |
A |
9: 7,272,931 (GRCm39) |
C97Y |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,128,438 (GRCm39) |
N163K |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,916,672 (GRCm39) |
I863V |
probably damaging |
Het |
| Nectin4 |
A |
G |
1: 171,212,295 (GRCm39) |
T298A |
probably benign |
Het |
| Net1 |
T |
C |
13: 3,962,672 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
T |
C |
11: 68,276,450 (GRCm39) |
D166G |
probably damaging |
Het |
| Opa3 |
C |
A |
7: 18,978,940 (GRCm39) |
A135E |
possibly damaging |
Het |
| Or1e31 |
T |
G |
11: 73,690,568 (GRCm39) |
N5T |
noncoding transcript |
Het |
| Or4c3d |
T |
C |
2: 89,882,441 (GRCm39) |
T76A |
probably benign |
Het |
| Or51v14 |
T |
C |
7: 103,261,254 (GRCm39) |
Q102R |
probably damaging |
Het |
| Or5w14 |
A |
G |
2: 87,541,546 (GRCm39) |
F235L |
probably benign |
Het |
| Or8g30 |
A |
G |
9: 39,230,601 (GRCm39) |
F103S |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,248,833 (GRCm39) |
I608V |
probably benign |
Het |
| Phc1 |
A |
C |
6: 122,297,937 (GRCm39) |
S782R |
unknown |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pip5k1b |
T |
A |
19: 24,332,563 (GRCm39) |
T374S |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,208,354 (GRCm39) |
S541G |
probably damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,344,504 (GRCm39) |
N143D |
possibly damaging |
Het |
| Rabep1 |
A |
G |
11: 70,784,486 (GRCm39) |
D207G |
possibly damaging |
Het |
| Rbbp8 |
G |
A |
18: 11,853,682 (GRCm39) |
M296I |
probably benign |
Het |
| Recql4 |
C |
A |
15: 76,594,380 (GRCm39) |
R46L |
probably damaging |
Het |
| Scgb2b18 |
T |
C |
7: 32,872,582 (GRCm39) |
I74M |
probably benign |
Het |
| Shc4 |
A |
G |
2: 125,497,536 (GRCm39) |
I391T |
possibly damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,908,190 (GRCm39) |
F184L |
probably benign |
Het |
| Slc7a6 |
A |
G |
8: 106,895,590 (GRCm39) |
|
probably benign |
Het |
| Smim13 |
G |
T |
13: 41,426,110 (GRCm39) |
G49* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,054,389 (GRCm39) |
D459G |
probably damaging |
Het |
| Tnpo1 |
T |
C |
13: 99,021,133 (GRCm39) |
N82S |
possibly damaging |
Het |
| Tpp2 |
G |
A |
1: 43,973,387 (GRCm39) |
V47I |
probably benign |
Het |
| Umodl1 |
G |
T |
17: 31,203,806 (GRCm39) |
A540S |
probably damaging |
Het |
| Vmn2r83 |
G |
A |
10: 79,317,313 (GRCm39) |
V519I |
possibly damaging |
Het |
| Zfp641 |
T |
C |
15: 98,188,464 (GRCm39) |
I139V |
probably damaging |
Het |
| Zfyve21 |
A |
T |
12: 111,789,715 (GRCm39) |
I60F |
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 |
|
R6318:Malrd1
|
UTSW |
2 |
16,047,078 (GRCm39) |
missense |
unknown |
|
|
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 |
|
|
|
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'- GTGTCACAAACCCCTTTTATCAAAC -3'
(R):5'- GTCTCACAAAGATCATGATACTGC -3'
Sequencing Primer
(F):5'- AGAGGTATTCAACATGCTTCCC -3'
(R):5'- CTGCATTATAACTTCAGATATGAC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation