Incidental Mutation 'R7112:Malrd1'
| ID |
551542 |
| 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 |
045204-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R7112 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
15531290-16260366 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 15929987 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 1498
(N1498D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000146205
AA Change: N1498D
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: N1498D
| 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: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak2 |
G |
T |
12: 112,747,747 (GRCm39) |
A1036E |
|
Het |
| Baz2b |
A |
T |
2: 59,792,528 (GRCm39) |
H533Q |
possibly damaging |
Het |
| Bcl2l11 |
T |
A |
2: 128,000,235 (GRCm39) |
W193R |
probably damaging |
Het |
| Bcl2l12 |
C |
T |
7: 44,646,338 (GRCm39) |
G24D |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,580,773 (GRCm39) |
V691A |
probably damaging |
Het |
| Cdh8 |
T |
C |
8: 99,922,984 (GRCm39) |
D304G |
probably damaging |
Het |
| Ces3a |
A |
T |
8: 105,784,594 (GRCm39) |
Q525H |
probably damaging |
Het |
| Csmd1 |
C |
A |
8: 16,151,142 (GRCm39) |
C1391F |
probably damaging |
Het |
| Cul7 |
G |
T |
17: 46,962,624 (GRCm39) |
G85V |
probably damaging |
Het |
| Dnah8 |
G |
A |
17: 31,090,366 (GRCm39) |
V4623I |
possibly damaging |
Het |
| Dnhd1 |
T |
A |
7: 105,363,192 (GRCm39) |
L3918Q |
probably damaging |
Het |
| Exoc4 |
A |
T |
6: 33,898,423 (GRCm39) |
N881Y |
probably damaging |
Het |
| Flt1 |
G |
C |
5: 147,540,379 (GRCm39) |
A770G |
probably damaging |
Het |
| Fndc5 |
A |
G |
4: 129,035,915 (GRCm39) |
N184S |
probably benign |
Het |
| Folh1 |
A |
G |
7: 86,424,845 (GRCm39) |
|
probably null |
Het |
| Frem3 |
A |
T |
8: 81,338,660 (GRCm39) |
T318S |
probably damaging |
Het |
| Gba2 |
A |
G |
4: 43,568,453 (GRCm39) |
V671A |
probably benign |
Het |
| Gpt2 |
G |
A |
8: 86,244,681 (GRCm39) |
E325K |
probably benign |
Het |
| Jph2 |
G |
A |
2: 163,217,704 (GRCm39) |
T324M |
probably damaging |
Het |
| Kank4 |
A |
G |
4: 98,649,758 (GRCm39) |
V937A |
probably damaging |
Het |
| Kdm3a |
T |
A |
6: 71,609,154 (GRCm39) |
E24D |
probably benign |
Het |
| Kidins220 |
T |
A |
12: 25,054,018 (GRCm39) |
L464Q |
probably damaging |
Het |
| Loxhd1 |
T |
A |
18: 77,476,210 (GRCm39) |
V1159E |
probably damaging |
Het |
| Mplkipl1 |
T |
G |
19: 61,163,997 (GRCm39) |
D146A |
probably damaging |
Het |
| Mrgprb5 |
C |
T |
7: 47,818,655 (GRCm39) |
V27I |
probably benign |
Het |
| Mtfr2 |
A |
G |
10: 20,233,312 (GRCm39) |
N294D |
probably damaging |
Het |
| Muc6 |
A |
T |
7: 141,235,542 (GRCm39) |
L498H |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,050 (GRCm39) |
T227A |
possibly damaging |
Het |
| Nin |
C |
T |
12: 70,149,573 (GRCm39) |
R12Q |
|
Het |
| Obscn |
G |
C |
11: 58,920,151 (GRCm39) |
A27G |
|
Het |
| Or11h7 |
T |
A |
14: 50,891,583 (GRCm39) |
D296E |
probably benign |
Het |
| Or4k5 |
T |
G |
14: 50,385,392 (GRCm39) |
E313A |
probably benign |
Het |
| Or52r1b |
G |
A |
7: 102,690,862 (GRCm39) |
D54N |
probably damaging |
Het |
| Or8b48 |
T |
A |
9: 38,493,330 (GRCm39) |
Y252* |
probably null |
Het |
| Or8s5 |
T |
A |
15: 98,238,421 (GRCm39) |
M150L |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,626,135 (GRCm39) |
S1672P |
unknown |
Het |
| Qprt |
A |
G |
7: 126,707,361 (GRCm39) |
V245A |
probably damaging |
Het |
| Rab11fip5 |
T |
A |
6: 85,325,176 (GRCm39) |
E377V |
probably damaging |
Het |
| Rere |
A |
G |
4: 150,491,061 (GRCm39) |
T71A |
probably benign |
Het |
| Ret |
A |
T |
6: 118,174,063 (GRCm39) |
L11Q |
possibly damaging |
Het |
| Rp1 |
C |
T |
1: 4,419,241 (GRCm39) |
V624I |
probably benign |
Het |
| Scaf8 |
T |
A |
17: 3,213,304 (GRCm39) |
L131H |
unknown |
Het |
| Scgb2a2 |
A |
G |
19: 9,829,021 (GRCm39) |
R58G |
probably benign |
Het |
| Scn11a |
A |
G |
9: 119,583,875 (GRCm39) |
I1580T |
probably damaging |
Het |
| Slco4c1 |
T |
G |
1: 96,768,866 (GRCm39) |
K332T |
probably damaging |
Het |
| Sntg1 |
T |
G |
1: 8,518,289 (GRCm39) |
Y368S |
possibly damaging |
Het |
| Stim1 |
A |
G |
7: 102,057,615 (GRCm39) |
T143A |
probably benign |
Het |
| Tbr1 |
A |
G |
2: 61,642,160 (GRCm39) |
D475G |
probably benign |
Het |
| Tcp1 |
A |
G |
17: 13,136,760 (GRCm39) |
D47G |
probably damaging |
Het |
| Tpgs2 |
T |
C |
18: 25,282,194 (GRCm39) |
D119G |
probably damaging |
Het |
| Trim40 |
C |
A |
17: 37,193,534 (GRCm39) |
R225M |
probably null |
Het |
| Tro |
GCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCGAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC |
GCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCCTCCAAAGCCACCTCCAGTATTTGGTCCTCCAAAGCCACCTCCAGTGCTTGGTCC |
X: 149,428,852 (GRCm39) |
|
probably benign |
Het |
| Trpm1 |
A |
T |
7: 63,885,593 (GRCm39) |
N870Y |
probably damaging |
Het |
| Tsr3 |
A |
G |
17: 25,459,445 (GRCm39) |
D47G |
probably benign |
Het |
| Vil1 |
G |
A |
1: 74,455,161 (GRCm39) |
G38R |
probably damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,325,880 (GRCm39) |
Q166L |
possibly damaging |
Het |
| Wdr33 |
C |
T |
18: 32,026,056 (GRCm39) |
T919I |
unknown |
Het |
| Wdr36 |
T |
C |
18: 32,972,504 (GRCm39) |
V64A |
probably benign |
Het |
| Xpnpep1 |
T |
C |
19: 52,998,538 (GRCm39) |
I237V |
probably benign |
Het |
| Zfp780b |
A |
T |
7: 27,662,566 (GRCm39) |
I663N |
probably damaging |
Het |
| Zfyve9 |
G |
A |
4: 108,507,519 (GRCm39) |
A513V |
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 |
|
|
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'- GGAATAACCATGCATTCCATTTGTG -3'
(R):5'- CTGTGGGTGGCTACAAACAAC -3'
Sequencing Primer
(F):5'- GCATTCCATTTGTGTTTCATTCCAGG -3'
(R):5'- GGGTGGCTACAAACAACAGCATC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation