Incidental Mutation 'R8960:Malrd1'
| ID |
682252 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R8960 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
15531290-16260366 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 15570241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 158
(K158*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000146205
AA Change: K158*
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: K158*
| 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: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
| Validation Efficiency |
100% (78/78) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg4 |
G |
A |
9: 44,186,063 (GRCm39) |
Q603* |
probably null |
Het |
| Adar |
A |
G |
3: 89,647,516 (GRCm39) |
Y165C |
probably damaging |
Het |
| Afp |
A |
G |
5: 90,651,500 (GRCm39) |
T372A |
probably benign |
Het |
| Asah1 |
T |
A |
8: 41,800,061 (GRCm39) |
L184F |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,067,132 (GRCm39) |
E3548G |
probably damaging |
Het |
| Bpifb2 |
A |
T |
2: 153,731,046 (GRCm39) |
I206F |
possibly damaging |
Het |
| Btn1a1 |
C |
A |
13: 23,648,741 (GRCm39) |
D31Y |
possibly damaging |
Het |
| C4b |
T |
A |
17: 34,952,892 (GRCm39) |
D1110V |
probably damaging |
Het |
| Ccdc162 |
T |
A |
10: 41,429,178 (GRCm39) |
D1901V |
probably damaging |
Het |
| Cd101 |
A |
G |
3: 100,910,817 (GRCm39) |
V947A |
probably benign |
Het |
| Cd55b |
A |
T |
1: 130,338,375 (GRCm39) |
S238T |
possibly damaging |
Het |
| Cdc25c |
T |
C |
18: 34,866,329 (GRCm39) |
I437V |
possibly damaging |
Het |
| Cfap97 |
T |
C |
8: 46,623,605 (GRCm39) |
S332P |
probably damaging |
Het |
| Chpf |
A |
G |
1: 75,452,398 (GRCm39) |
L352P |
probably damaging |
Het |
| Cntln |
T |
A |
4: 85,018,961 (GRCm39) |
M1217K |
possibly damaging |
Het |
| Cntrl |
A |
G |
2: 35,052,053 (GRCm39) |
E1629G |
possibly damaging |
Het |
| Csnk1g2 |
T |
C |
10: 80,474,396 (GRCm39) |
Y206H |
probably damaging |
Het |
| Cyp2c55 |
T |
A |
19: 38,995,547 (GRCm39) |
W20R |
probably null |
Het |
| Dhx35 |
A |
T |
2: 158,657,393 (GRCm39) |
H130L |
possibly damaging |
Het |
| Dnm1 |
A |
G |
2: 32,202,741 (GRCm39) |
V54A |
probably damaging |
Het |
| Eea1 |
T |
A |
10: 95,864,381 (GRCm39) |
S967T |
probably benign |
Het |
| Efcab3 |
A |
G |
11: 104,820,772 (GRCm39) |
|
probably benign |
Het |
| Elf3 |
A |
T |
1: 135,182,813 (GRCm39) |
I304N |
probably damaging |
Het |
| Eps8l1 |
G |
T |
7: 4,481,214 (GRCm39) |
R672L |
probably damaging |
Het |
| Fam163a |
A |
T |
1: 155,954,862 (GRCm39) |
C96* |
probably null |
Het |
| Fancd2 |
T |
C |
6: 113,540,129 (GRCm39) |
|
probably null |
Het |
| Fbxo3 |
C |
T |
2: 103,858,274 (GRCm39) |
L23F |
possibly damaging |
Het |
| Fbxw14 |
A |
G |
9: 109,114,367 (GRCm39) |
V121A |
possibly damaging |
Het |
| Fgd6 |
T |
A |
10: 93,880,868 (GRCm39) |
V574D |
probably benign |
Het |
| Gask1b |
T |
C |
3: 79,794,293 (GRCm39) |
S254P |
probably benign |
Het |
| Gbp11 |
A |
G |
5: 105,479,251 (GRCm39) |
F124S |
probably damaging |
Het |
| Grin1 |
A |
T |
2: 25,195,428 (GRCm39) |
|
probably benign |
Het |
| Grm2 |
T |
G |
9: 106,531,345 (GRCm39) |
E48A |
probably benign |
Het |
| H2-M10.5 |
T |
A |
17: 37,084,770 (GRCm39) |
Y165N |
probably benign |
Het |
| Hoxa13 |
A |
C |
6: 52,236,976 (GRCm39) |
S172A |
probably benign |
Het |
| Ifih1 |
T |
A |
2: 62,442,235 (GRCm39) |
K376N |
possibly damaging |
Het |
| Insrr |
C |
A |
3: 87,720,386 (GRCm39) |
T1008K |
probably damaging |
Het |
| Itih1 |
A |
G |
14: 30,655,414 (GRCm39) |
S594P |
probably damaging |
Het |
| Kidins220 |
T |
C |
12: 25,106,914 (GRCm39) |
S1365P |
probably benign |
Het |
| Man2c1 |
G |
A |
9: 57,045,279 (GRCm39) |
G504R |
probably damaging |
Het |
| Mbd1 |
T |
C |
18: 74,406,890 (GRCm39) |
|
probably null |
Het |
| Micall2 |
G |
A |
5: 139,702,025 (GRCm39) |
A323V |
probably benign |
Het |
| Mroh9 |
A |
C |
1: 162,883,196 (GRCm39) |
F428V |
probably benign |
Het |
| Myo7b |
T |
A |
18: 32,127,299 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,591,463 (GRCm39) |
H535L |
possibly damaging |
Het |
| Obscn |
A |
T |
11: 58,922,438 (GRCm39) |
V6567E |
probably damaging |
Het |
| Or1e28-ps1 |
A |
C |
11: 73,615,230 (GRCm39) |
S207A |
unknown |
Het |
| Or1e33 |
A |
T |
11: 73,738,167 (GRCm39) |
C261* |
probably null |
Het |
| Or2g25 |
T |
A |
17: 37,970,760 (GRCm39) |
T155S |
probably benign |
Het |
| Or2y1d |
A |
T |
11: 49,321,543 (GRCm39) |
Q80L |
probably benign |
Het |
| Or5h25 |
T |
A |
16: 58,930,555 (GRCm39) |
R139S |
probably benign |
Het |
| Or8b53 |
A |
T |
9: 38,667,385 (GRCm39) |
I134F |
possibly damaging |
Het |
| Pde4dip |
T |
C |
3: 97,700,464 (GRCm39) |
D238G |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pgbd5 |
T |
A |
8: 125,111,175 (GRCm39) |
Y172F |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,795,176 (GRCm39) |
T2288A |
probably damaging |
Het |
| Ppp6r2 |
T |
A |
15: 89,137,239 (GRCm39) |
M1K |
probably null |
Het |
| Rc3h1 |
A |
G |
1: 160,774,164 (GRCm39) |
T344A |
probably damaging |
Het |
| Rgs5 |
T |
C |
1: 169,504,461 (GRCm39) |
V37A |
possibly damaging |
Het |
| Rgs9 |
A |
G |
11: 109,139,815 (GRCm39) |
S17P |
possibly damaging |
Het |
| Rusc1 |
T |
A |
3: 88,991,865 (GRCm39) |
D407V |
probably damaging |
Het |
| Rwdd1 |
T |
A |
10: 33,895,383 (GRCm39) |
I18F |
possibly damaging |
Het |
| Satb2 |
C |
T |
1: 56,910,470 (GRCm39) |
|
probably null |
Het |
| Sds |
A |
G |
5: 120,621,659 (GRCm39) |
E267G |
probably damaging |
Het |
| Sema4b |
T |
A |
7: 79,875,076 (GRCm39) |
V822E |
probably damaging |
Het |
| Sfxn5 |
A |
T |
6: 85,266,176 (GRCm39) |
M107K |
probably damaging |
Het |
| Slc5a8 |
C |
T |
10: 88,722,035 (GRCm39) |
|
probably benign |
Het |
| Sorbs1 |
T |
C |
19: 40,387,048 (GRCm39) |
D6G |
probably damaging |
Het |
| Syt14 |
A |
C |
1: 192,666,515 (GRCm39) |
|
probably benign |
Het |
| Vmn2r124 |
T |
G |
17: 18,283,291 (GRCm39) |
Y328* |
probably null |
Het |
| Vmn2r86 |
T |
A |
10: 130,289,672 (GRCm39) |
E74D |
probably benign |
Het |
| Vmo1 |
A |
C |
11: 70,404,476 (GRCm39) |
L175W |
probably damaging |
Het |
| Vps13a |
G |
T |
19: 16,683,247 (GRCm39) |
L982I |
possibly damaging |
Het |
| Wdr19 |
T |
C |
5: 65,398,211 (GRCm39) |
V812A |
probably benign |
Het |
| Wdr27 |
T |
C |
17: 15,103,908 (GRCm39) |
I733V |
probably benign |
Het |
| Wdr54 |
A |
T |
6: 83,132,739 (GRCm39) |
H38Q |
probably damaging |
Het |
| Wdr76 |
G |
A |
2: 121,341,104 (GRCm39) |
V50I |
probably damaging |
Het |
| Zfp930 |
T |
A |
8: 69,680,541 (GRCm39) |
N59K |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,501,558 (GRCm39) |
N1218S |
possibly 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 |
15,672,740 (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 |
|
|
|
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'- AGCCCATTTTCTTGCACTGG -3'
(R):5'- TCTGAAATCTGGGTTCTCATGG -3'
Sequencing Primer
(F):5'- AGGGTCGATTCCATCTCCTCAAAC -3'
(R):5'- CATGGGTTTTCCTCTAATGACATAG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation