Incidental Mutation 'R9721:Malrd1'
ID |
730768 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R9721 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
15531290-16260366 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 15701638 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 751
(T751I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
AlphaFold |
A2AJX4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000146205
AA Change: T751I
|
SMART Domains |
Protein: ENSMUSP00000116869 Gene: ENSMUSG00000075520 AA Change: T751I
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: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
A |
T |
3: 124,212,932 (GRCm39) |
Y120N |
probably benign |
Het |
AAdacl4fm3 |
A |
T |
4: 144,429,942 (GRCm39) |
V349D |
possibly damaging |
Het |
Alox8 |
T |
A |
11: 69,087,911 (GRCm39) |
H131L |
probably benign |
Het |
Atp13a1 |
A |
G |
8: 70,252,087 (GRCm39) |
E588G |
probably damaging |
Het |
AU040320 |
G |
A |
4: 126,733,441 (GRCm39) |
V654M |
probably damaging |
Het |
Bicra |
A |
G |
7: 15,713,101 (GRCm39) |
L982P |
probably damaging |
Het |
Cdh11 |
A |
T |
8: 103,406,257 (GRCm39) |
V72E |
probably damaging |
Het |
Cfap65 |
T |
C |
1: 74,958,501 (GRCm39) |
T869A |
probably benign |
Het |
Cplane1 |
A |
G |
15: 8,254,893 (GRCm39) |
T27A |
unknown |
Het |
Ddx19a |
A |
G |
8: 111,705,107 (GRCm39) |
F338S |
probably damaging |
Het |
Dhrs7c |
T |
A |
11: 67,705,904 (GRCm39) |
V219E |
probably damaging |
Het |
Dhx33 |
A |
G |
11: 70,892,424 (GRCm39) |
V115A |
probably damaging |
Het |
Dst |
A |
G |
1: 34,231,866 (GRCm39) |
D3153G |
probably benign |
Het |
Ecpas |
A |
T |
4: 58,850,938 (GRCm39) |
S412T |
probably benign |
Het |
Eif5b |
T |
C |
1: 38,076,740 (GRCm39) |
|
probably null |
Het |
Ep300 |
A |
G |
15: 81,492,516 (GRCm39) |
N284S |
unknown |
Het |
Fam83a |
A |
G |
15: 57,849,513 (GRCm39) |
N19S |
probably benign |
Het |
Fgd5 |
A |
T |
6: 91,965,278 (GRCm39) |
T504S |
probably benign |
Het |
Flt4 |
G |
A |
11: 49,535,260 (GRCm39) |
|
probably null |
Het |
Ggta1 |
G |
T |
2: 35,303,418 (GRCm39) |
D91E |
probably benign |
Het |
Gls |
A |
G |
1: 52,251,427 (GRCm39) |
V310A |
probably damaging |
Het |
Gm5414 |
A |
T |
15: 101,536,582 (GRCm39) |
C14* |
probably null |
Het |
Gm9887 |
C |
G |
12: 69,418,629 (GRCm39) |
A202P |
unknown |
Het |
Ifi214 |
T |
C |
1: 173,355,479 (GRCm39) |
T110A |
possibly damaging |
Het |
Il4i1 |
A |
G |
7: 44,489,113 (GRCm39) |
R293G |
probably benign |
Het |
Itpr1 |
A |
T |
6: 108,383,063 (GRCm39) |
T1464S |
probably damaging |
Het |
Kif18a |
T |
C |
2: 109,123,400 (GRCm39) |
S225P |
probably damaging |
Het |
Kif21a |
A |
T |
15: 90,855,330 (GRCm39) |
I678N |
probably damaging |
Het |
Klf11 |
T |
A |
12: 24,710,240 (GRCm39) |
D429E |
probably damaging |
Het |
Kntc1 |
A |
G |
5: 123,939,948 (GRCm39) |
T1581A |
probably benign |
Het |
Lama2 |
T |
C |
10: 27,343,338 (GRCm39) |
N45D |
possibly damaging |
Het |
Lrrk1 |
T |
C |
7: 65,924,623 (GRCm39) |
I1319V |
probably damaging |
Het |
Ltbr |
G |
A |
6: 125,284,348 (GRCm39) |
R365W |
probably damaging |
Het |
Matcap1 |
A |
T |
8: 106,009,820 (GRCm39) |
D376E |
probably benign |
Het |
Mgat5b |
T |
C |
11: 116,857,595 (GRCm39) |
L363P |
probably damaging |
Het |
Mphosph9 |
A |
T |
5: 124,436,738 (GRCm39) |
S535R |
possibly damaging |
Het |
Nckap5 |
C |
T |
1: 125,955,017 (GRCm39) |
D512N |
probably damaging |
Het |
Ngef |
T |
A |
1: 87,406,857 (GRCm39) |
D637V |
probably damaging |
Het |
Nup93 |
T |
C |
8: 95,030,313 (GRCm39) |
Y391H |
probably damaging |
Het |
Or10j7 |
C |
A |
1: 173,011,915 (GRCm39) |
V29F |
probably benign |
Het |
Or4c110 |
T |
C |
2: 88,832,060 (GRCm39) |
T191A |
|
Het |
Or5b3 |
A |
T |
19: 13,388,334 (GRCm39) |
T134S |
probably benign |
Het |
Pcdhb4 |
C |
A |
18: 37,442,905 (GRCm39) |
D738E |
possibly damaging |
Het |
Pfpl |
G |
C |
19: 12,406,297 (GRCm39) |
E183Q |
probably damaging |
Het |
Phactr3 |
G |
A |
2: 177,898,043 (GRCm39) |
E86K |
probably damaging |
Het |
Psd |
C |
T |
19: 46,311,628 (GRCm39) |
D351N |
probably benign |
Het |
Pzp |
A |
G |
6: 128,472,154 (GRCm39) |
|
probably null |
Het |
Rerg |
T |
A |
6: 137,033,415 (GRCm39) |
K106* |
probably null |
Het |
Samd9l |
T |
C |
6: 3,375,854 (GRCm39) |
E469G |
possibly damaging |
Het |
Smok2b |
C |
A |
17: 13,453,865 (GRCm39) |
Y8* |
probably null |
Het |
Spata31e3 |
T |
C |
13: 50,400,688 (GRCm39) |
Y546C |
possibly damaging |
Het |
Spn |
A |
G |
7: 126,735,437 (GRCm39) |
S357P |
probably benign |
Het |
Tek |
T |
G |
4: 94,692,539 (GRCm39) |
W216G |
possibly damaging |
Het |
Trpm3 |
A |
T |
19: 22,866,762 (GRCm39) |
H531L |
probably benign |
Het |
Trpm6 |
A |
G |
19: 18,807,336 (GRCm39) |
M1027V |
probably benign |
Het |
Tsc2 |
G |
A |
17: 24,818,616 (GRCm39) |
R1408* |
probably null |
Het |
Tut4 |
T |
A |
4: 108,412,778 (GRCm39) |
M1493K |
probably benign |
Het |
Unc13b |
A |
G |
4: 43,101,869 (GRCm39) |
N155D |
probably benign |
Het |
Vmn1r52 |
G |
A |
6: 90,156,008 (GRCm39) |
C104Y |
probably damaging |
Het |
Xylt1 |
A |
T |
7: 117,148,255 (GRCm39) |
E273V |
probably damaging |
Het |
Zc3h4 |
C |
A |
7: 16,168,770 (GRCm39) |
Q1035K |
unknown |
Het |
Zfp14 |
A |
T |
7: 29,738,609 (GRCm39) |
S125R |
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 |
|
|
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 |
|
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'- ACAGAAAGATCAACTATGTAGTGTCTC -3'
(R):5'- ACCACAGCCAGTCTCATCTG -3'
Sequencing Primer
(F):5'- ACTATGGACTGTCAGTGGG -3'
(R):5'- GATCACAGAGCTGATGCCTTC -3'
|
Posted On |
2022-10-06 |