Incidental Mutation 'R7662:Malrd1'
| ID |
591603 |
| 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 |
045737-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R7662 (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 15876265 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 1404
(V1404D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000146205
AA Change: V1404D
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: V1404D
| 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 |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (82/82) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,885,999 (GRCm39) |
S48L |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,437,686 (GRCm39) |
|
probably null |
Het |
| Adss1 |
T |
A |
12: 112,606,172 (GRCm39) |
V456E |
probably damaging |
Het |
| Aimp1 |
A |
T |
3: 132,379,827 (GRCm39) |
V105E |
probably benign |
Het |
| Ankrd6 |
G |
A |
4: 32,818,694 (GRCm39) |
R270C |
probably damaging |
Het |
| Arid5b |
C |
T |
10: 67,934,417 (GRCm39) |
G495E |
probably benign |
Het |
| Armh1 |
C |
A |
4: 117,070,938 (GRCm39) |
A396S |
probably benign |
Het |
| Asb15 |
T |
A |
6: 24,566,089 (GRCm39) |
D347E |
probably benign |
Het |
| Axin2 |
T |
A |
11: 108,833,282 (GRCm39) |
L489Q |
possibly damaging |
Het |
| Baiap2l1 |
G |
A |
5: 144,294,700 (GRCm39) |
|
probably benign |
Het |
| Cdc6 |
T |
A |
11: 98,801,438 (GRCm39) |
N194K |
possibly damaging |
Het |
| Cdc6 |
T |
C |
11: 98,807,836 (GRCm39) |
L443P |
probably benign |
Het |
| Celf2 |
C |
A |
2: 6,558,728 (GRCm39) |
G393C |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,373,665 (GRCm39) |
M1315K |
probably benign |
Het |
| Cilk1 |
G |
C |
9: 78,074,902 (GRCm39) |
V586L |
probably benign |
Het |
| Cntn5 |
A |
T |
9: 9,661,390 (GRCm39) |
M887K |
probably benign |
Het |
| Col17a1 |
T |
C |
19: 47,669,940 (GRCm39) |
I71V |
probably benign |
Het |
| Crot |
T |
C |
5: 9,019,072 (GRCm39) |
M494V |
probably damaging |
Het |
| Ctnna2 |
A |
T |
6: 77,613,852 (GRCm39) |
V246D |
probably damaging |
Het |
| Cyb5r4 |
A |
G |
9: 86,909,091 (GRCm39) |
E56G |
possibly damaging |
Het |
| Dennd2a |
A |
G |
6: 39,470,037 (GRCm39) |
Y552H |
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,759,713 (GRCm39) |
I273V |
probably damaging |
Het |
| Dkk2 |
A |
G |
3: 131,883,629 (GRCm39) |
|
probably null |
Het |
| Dnaja2 |
A |
C |
8: 86,265,905 (GRCm39) |
D393E |
probably benign |
Het |
| Dscc1 |
T |
A |
15: 54,939,561 (GRCm39) |
I461F |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,325,736 (GRCm39) |
S700C |
unknown |
Het |
| Ect2 |
T |
A |
3: 27,185,947 (GRCm39) |
H512L |
probably damaging |
Het |
| Eif1b |
A |
G |
9: 120,323,277 (GRCm39) |
T46A |
possibly damaging |
Het |
| Fam114a2 |
A |
T |
11: 57,398,391 (GRCm39) |
D182E |
probably damaging |
Het |
| Fez1 |
C |
A |
9: 36,781,796 (GRCm39) |
P347H |
probably damaging |
Het |
| Fgd5 |
G |
A |
6: 92,026,912 (GRCm39) |
|
probably null |
Het |
| Flad1 |
T |
A |
3: 89,310,758 (GRCm39) |
I430F |
probably damaging |
Het |
| Gal3st2b |
T |
C |
1: 93,868,614 (GRCm39) |
Y282H |
probably damaging |
Het |
| Gm29106 |
T |
A |
1: 118,127,137 (GRCm39) |
N276K |
possibly damaging |
Het |
| Gm36176 |
C |
A |
10: 77,682,686 (GRCm39) |
S16Y |
unknown |
Het |
| Gm5624 |
T |
C |
14: 44,799,390 (GRCm39) |
R56G |
possibly damaging |
Het |
| Gpatch11 |
A |
C |
17: 79,146,484 (GRCm39) |
Q43P |
probably benign |
Het |
| Gtpbp2 |
A |
G |
17: 46,477,361 (GRCm39) |
T409A |
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,272,357 (GRCm39) |
I1279T |
probably benign |
Het |
| Itih3 |
T |
A |
14: 30,639,287 (GRCm39) |
N429Y |
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,736,353 (GRCm39) |
|
probably null |
Het |
| Lrrc34 |
T |
A |
3: 30,697,452 (GRCm39) |
Y93F |
probably benign |
Het |
| Lypd9 |
T |
C |
11: 58,338,269 (GRCm39) |
N41S |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,046,218 (GRCm39) |
N1526S |
unknown |
Het |
| Myt1l |
A |
G |
12: 29,876,868 (GRCm39) |
D173G |
unknown |
Het |
| Nckap1l |
A |
T |
15: 103,371,012 (GRCm39) |
H197L |
probably damaging |
Het |
| Nipa1 |
T |
C |
7: 55,629,372 (GRCm39) |
E247G |
probably damaging |
Het |
| Nmrk1 |
A |
T |
19: 18,619,542 (GRCm39) |
R132* |
probably null |
Het |
| Nrap |
G |
T |
19: 56,308,715 (GRCm39) |
A1700E |
probably benign |
Het |
| Odr4 |
T |
C |
1: 150,258,045 (GRCm39) |
S197G |
probably benign |
Het |
| Or13p8 |
T |
A |
4: 118,583,504 (GRCm39) |
F20Y |
probably damaging |
Het |
| Or8g32 |
A |
T |
9: 39,305,389 (GRCm39) |
M98L |
probably benign |
Het |
| Padi6 |
T |
C |
4: 140,456,306 (GRCm39) |
T563A |
probably benign |
Het |
| Pcdhb19 |
G |
A |
18: 37,631,788 (GRCm39) |
E528K |
probably damaging |
Het |
| Pcnt |
T |
C |
10: 76,223,356 (GRCm39) |
D1942G |
probably benign |
Het |
| Pcnx2 |
C |
T |
8: 126,545,510 (GRCm39) |
W1167* |
probably null |
Het |
| Pkp3 |
C |
T |
7: 140,658,292 (GRCm39) |
T19I |
probably benign |
Het |
| Plekhg5 |
T |
C |
4: 152,188,755 (GRCm39) |
L199P |
probably damaging |
Het |
| Rasal1 |
A |
G |
5: 120,800,249 (GRCm39) |
T171A |
probably benign |
Het |
| Rgsl1 |
T |
C |
1: 153,701,225 (GRCm39) |
I410V |
probably benign |
Het |
| Scart2 |
T |
C |
7: 139,874,725 (GRCm39) |
V401A |
possibly damaging |
Het |
| Sftpa1 |
C |
A |
14: 40,856,169 (GRCm39) |
N171K |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,734,737 (GRCm39) |
*686R |
probably null |
Het |
| Smap1 |
A |
T |
1: 23,916,855 (GRCm39) |
N91K |
probably damaging |
Het |
| Tenm3 |
A |
G |
8: 48,788,762 (GRCm39) |
S695P |
probably benign |
Het |
| Thoc3 |
A |
T |
13: 54,611,617 (GRCm39) |
H223Q |
probably damaging |
Het |
| Tmco4 |
T |
C |
4: 138,737,872 (GRCm39) |
F156L |
probably benign |
Het |
| Tmem30a |
C |
T |
9: 79,682,513 (GRCm39) |
V188I |
probably benign |
Het |
| Trim27 |
T |
A |
13: 21,376,328 (GRCm39) |
C359S |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,769,321 (GRCm39) |
T2609A |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,692,744 (GRCm39) |
V446A |
|
Het |
| Vat1l |
T |
A |
8: 115,009,084 (GRCm39) |
Y273N |
probably damaging |
Het |
| Vmn1r129 |
T |
A |
7: 21,094,552 (GRCm39) |
H222L |
possibly damaging |
Het |
| Vmn2r19 |
A |
G |
6: 123,308,521 (GRCm39) |
T533A |
probably benign |
Het |
| Vmn2r77 |
T |
A |
7: 86,460,492 (GRCm39) |
L606* |
probably null |
Het |
| Vmn2r93 |
G |
T |
17: 18,525,631 (GRCm39) |
V430L |
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,562,304 (GRCm39) |
N466K |
probably damaging |
Het |
| Zfp507 |
A |
T |
7: 35,487,229 (GRCm39) |
Y746* |
probably null |
Het |
| Zfp521 |
A |
C |
18: 13,977,173 (GRCm39) |
L1080R |
probably damaging |
Het |
| Zfp74 |
A |
G |
7: 29,653,278 (GRCm39) |
|
probably null |
Het |
| Zfp831 |
G |
A |
2: 174,487,934 (GRCm39) |
A870T |
possibly damaging |
Het |
| Zfp936 |
A |
T |
7: 42,839,336 (GRCm39) |
K268* |
probably null |
Het |
| Zhx2 |
C |
A |
15: 57,685,572 (GRCm39) |
R314S |
probably damaging |
Het |
| Zkscan16 |
A |
T |
4: 58,957,679 (GRCm39) |
K654* |
probably null |
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 |
|
|
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'- TGCACATTAATTTGCCTTCCAGATC -3'
(R):5'- ACCCTGTACGAACATGAAGC -3'
Sequencing Primer
(F):5'- GCCTTCCAGATCTGTTAATAAAGAAG -3'
(R):5'- TGTACGAACATGAAGCAAACAC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation