Incidental Mutation 'R9667:Malrd1'
| ID |
727817 |
| 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 # |
R9667 (G1)
|
| Quality Score |
187.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
15531290-16260366 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 15570026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000146205
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
| 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: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 88 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
G |
A |
9: 55,890,645 (GRCm39) |
Q355* |
probably null |
Het |
| Aacs |
A |
T |
5: 125,580,691 (GRCm39) |
N255I |
possibly damaging |
Het |
| Abcf2 |
A |
G |
5: 24,779,185 (GRCm39) |
L121P |
probably damaging |
Het |
| Amigo1 |
A |
G |
3: 108,095,034 (GRCm39) |
I178V |
probably benign |
Het |
| Ankrd13a |
T |
A |
5: 114,933,793 (GRCm39) |
N262K |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,345,062 (GRCm39) |
E84G |
possibly damaging |
Het |
| Arhgap35 |
A |
T |
7: 16,296,914 (GRCm39) |
L717* |
probably null |
Het |
| Aspa |
A |
T |
11: 73,199,625 (GRCm39) |
C217* |
probably null |
Het |
| Atp5mc3 |
A |
G |
2: 73,739,567 (GRCm39) |
I91T |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 75,004,420 (GRCm39) |
M4763T |
possibly damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,753,927 (GRCm39) |
Y150C |
unknown |
Het |
| Ccdc180 |
C |
T |
4: 45,920,861 (GRCm39) |
Q936* |
probably null |
Het |
| Cdc42bpg |
A |
G |
19: 6,370,115 (GRCm39) |
E1103G |
probably benign |
Het |
| Cdca2 |
T |
C |
14: 67,915,003 (GRCm39) |
Q752R |
probably benign |
Het |
| Ces1b |
A |
T |
8: 93,791,637 (GRCm39) |
S321T |
probably benign |
Het |
| Cfap70 |
A |
T |
14: 20,490,690 (GRCm39) |
|
probably null |
Het |
| Cpox |
C |
T |
16: 58,490,984 (GRCm39) |
T65I |
possibly damaging |
Het |
| Crocc |
C |
T |
4: 140,748,988 (GRCm39) |
E1606K |
probably damaging |
Het |
| Cryzl2 |
T |
G |
1: 157,316,038 (GRCm39) |
M337R |
probably benign |
Het |
| Cyp4a29 |
C |
A |
4: 115,111,630 (GRCm39) |
A469D |
probably damaging |
Het |
| Dnaaf1 |
T |
A |
8: 120,306,043 (GRCm39) |
Y107N |
possibly damaging |
Het |
| Dpp6 |
T |
A |
5: 27,930,604 (GRCm39) |
I812N |
probably damaging |
Het |
| Elovl5 |
A |
G |
9: 77,889,947 (GRCm39) |
T253A |
possibly damaging |
Het |
| Fancd2 |
T |
A |
6: 113,530,717 (GRCm39) |
L450* |
probably null |
Het |
| Fbxo31 |
C |
T |
8: 122,305,208 (GRCm39) |
R96H |
probably damaging |
Het |
| Gls |
A |
T |
1: 52,230,036 (GRCm39) |
|
probably null |
Het |
| Gm3045 |
G |
A |
13: 56,577,253 (GRCm39) |
E134K |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,830,054 (GRCm39) |
I700V |
probably damaging |
Het |
| H2-Aa |
T |
C |
17: 34,502,295 (GRCm39) |
I209V |
probably benign |
Het |
| Ifnar2 |
A |
G |
16: 91,184,984 (GRCm39) |
D125G |
probably benign |
Het |
| Igsf8 |
C |
A |
1: 172,145,319 (GRCm39) |
D278E |
possibly damaging |
Het |
| Inpp5d |
T |
C |
1: 87,623,128 (GRCm39) |
I407T |
probably damaging |
Het |
| Iqcd |
A |
G |
5: 120,744,737 (GRCm39) |
E355G |
probably damaging |
Het |
| Klra2 |
T |
A |
6: 131,219,836 (GRCm39) |
D115V |
probably benign |
Het |
| Kmt2b |
T |
C |
7: 30,287,784 (GRCm39) |
E120G |
unknown |
Het |
| Lhx6 |
A |
G |
2: 35,980,979 (GRCm39) |
I321T |
possibly damaging |
Het |
| Lmna |
CAGCACGGTGCGTGAGC |
CAGC |
3: 88,389,857 (GRCm39) |
|
probably null |
Het |
| Lztr1 |
T |
C |
16: 17,327,000 (GRCm39) |
Y37H |
probably damaging |
Het |
| Mtmr3 |
C |
T |
11: 4,470,890 (GRCm39) |
V79I |
probably damaging |
Het |
| Nbr1 |
A |
G |
11: 101,451,261 (GRCm39) |
I56M |
possibly damaging |
Het |
| Ncor2 |
C |
T |
5: 125,125,545 (GRCm39) |
A580T |
unknown |
Het |
| Ndst3 |
A |
G |
3: 123,353,866 (GRCm39) |
I601T |
possibly damaging |
Het |
| Nectin4 |
C |
A |
1: 171,210,165 (GRCm39) |
P219Q |
probably damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,066,964 (GRCm39) |
V501A |
probably benign |
Het |
| Nisch |
T |
C |
14: 30,895,646 (GRCm39) |
T1015A |
probably damaging |
Het |
| Nr2c1 |
T |
C |
10: 94,017,479 (GRCm39) |
|
probably null |
Het |
| Nrg2 |
T |
C |
18: 36,165,430 (GRCm39) |
E394G |
probably benign |
Het |
| Oas1e |
A |
G |
5: 120,932,347 (GRCm39) |
F99L |
probably benign |
Het |
| Oaz3 |
A |
T |
3: 94,341,835 (GRCm39) |
Y178* |
probably null |
Het |
| Or1e35 |
A |
G |
11: 73,798,097 (GRCm39) |
S74P |
possibly damaging |
Het |
| Or6c69b |
A |
C |
10: 129,627,022 (GRCm39) |
S145R |
probably damaging |
Het |
| Pcdhb20 |
C |
T |
18: 37,637,839 (GRCm39) |
H122Y |
probably benign |
Het |
| Pdcd2 |
T |
A |
17: 15,747,535 (GRCm39) |
M1L |
probably damaging |
Het |
| Phf11 |
T |
C |
14: 59,482,240 (GRCm39) |
N171S |
probably benign |
Het |
| Plcd1 |
C |
A |
9: 118,901,698 (GRCm39) |
G609W |
probably damaging |
Het |
| Plscr3 |
T |
C |
11: 69,738,631 (GRCm39) |
F98L |
probably benign |
Het |
| Ppp1r8 |
T |
C |
4: 132,570,407 (GRCm39) |
N6S |
probably benign |
Het |
| Prpf38b |
G |
A |
3: 108,818,859 (GRCm39) |
|
probably benign |
Het |
| Rin2 |
T |
A |
2: 145,702,202 (GRCm39) |
N299K |
possibly damaging |
Het |
| Serpina1d |
T |
G |
12: 103,734,299 (GRCm39) |
T2P |
probably benign |
Het |
| Slc22a16 |
A |
G |
10: 40,461,125 (GRCm39) |
D330G |
probably benign |
Het |
| Slit1 |
G |
A |
19: 41,731,832 (GRCm39) |
Q6* |
probably null |
Het |
| Spaca7b |
T |
A |
8: 11,705,681 (GRCm39) |
E142V |
probably benign |
Het |
| Spag9 |
T |
C |
11: 93,887,119 (GRCm39) |
V8A |
possibly damaging |
Het |
| Spsb3 |
C |
T |
17: 25,105,784 (GRCm39) |
T44I |
unknown |
Het |
| Srrt |
T |
C |
5: 137,295,732 (GRCm39) |
Y563C |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,926,951 (GRCm39) |
D69G |
probably damaging |
Het |
| Tcf12 |
A |
G |
9: 71,792,443 (GRCm39) |
V80A |
probably benign |
Het |
| Tdpoz3 |
G |
A |
3: 93,733,336 (GRCm39) |
D4N |
possibly damaging |
Het |
| Tekt2 |
C |
T |
4: 126,217,444 (GRCm39) |
R207H |
probably damaging |
Het |
| Tmem132d |
G |
A |
5: 128,061,375 (GRCm39) |
T409I |
possibly damaging |
Het |
| Tmem245 |
G |
T |
4: 56,947,119 (GRCm39) |
T98K |
probably damaging |
Het |
| Tmem70 |
A |
C |
1: 16,735,659 (GRCm39) |
E43A |
probably benign |
Het |
| Trim25 |
A |
T |
11: 88,907,188 (GRCm39) |
I516F |
probably damaging |
Het |
| Trim3 |
G |
A |
7: 105,267,455 (GRCm39) |
S308L |
possibly damaging |
Het |
| Ttll9 |
C |
T |
2: 152,831,989 (GRCm39) |
R189* |
probably null |
Het |
| Ttpal |
T |
C |
2: 163,449,596 (GRCm39) |
|
probably null |
Het |
| Ubl4b |
A |
T |
3: 107,461,911 (GRCm39) |
H116Q |
probably benign |
Het |
| Unc80 |
C |
A |
1: 66,651,287 (GRCm39) |
T1544K |
possibly damaging |
Het |
| Usp2 |
T |
C |
9: 44,003,487 (GRCm39) |
|
probably null |
Het |
| Usp25 |
T |
C |
16: 76,874,123 (GRCm39) |
|
probably null |
Het |
| Vmn1r167 |
C |
T |
7: 23,204,990 (GRCm39) |
V9I |
probably benign |
Het |
| Vmn2r87 |
A |
G |
10: 130,314,776 (GRCm39) |
I270T |
probably damaging |
Het |
| Vps35l |
G |
A |
7: 118,348,915 (GRCm39) |
|
probably null |
Het |
| Wdr24 |
A |
G |
17: 26,046,301 (GRCm39) |
D515G |
possibly damaging |
Het |
| Wdr81 |
T |
C |
11: 75,341,650 (GRCm39) |
T87A |
|
Het |
| Zcchc14 |
A |
T |
8: 122,331,863 (GRCm39) |
L500Q |
unknown |
Het |
| Zzef1 |
A |
G |
11: 72,758,786 (GRCm39) |
T1242A |
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 |
|
|
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'- CTCAATATATTTTGGACTGTTGCCC -3'
(R):5'- TGCTATCAATTTGCCATTCTGG -3'
Sequencing Primer
(F):5'- CAATTCACCAATGGGGATT -3'
(R):5'- GCCATTCTGGTTACTGGAGAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation