Incidental Mutation 'R7582:Malrd1'
| ID |
586777 |
| 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 |
045665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R7582 (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 15700081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 643
(S643G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000146205
AA Change: S643G
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: S643G
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgb |
A |
G |
10: 10,266,565 (GRCm39) |
V1007A |
probably damaging |
Het |
| Adgrl3 |
T |
C |
5: 81,841,523 (GRCm39) |
V800A |
probably damaging |
Het |
| Ankfn1 |
T |
A |
11: 89,417,445 (GRCm39) |
M56L |
probably benign |
Het |
| Arfgap3 |
A |
C |
15: 83,187,302 (GRCm39) |
V72G |
possibly damaging |
Het |
| B3galnt2 |
C |
T |
13: 14,165,986 (GRCm39) |
R294W |
probably damaging |
Het |
| Cadm1 |
G |
T |
9: 47,708,740 (GRCm39) |
D157Y |
probably damaging |
Het |
| Castor1 |
T |
C |
11: 4,170,457 (GRCm39) |
V151A |
probably benign |
Het |
| Ccdc81 |
A |
T |
7: 89,525,353 (GRCm39) |
Y474N |
probably damaging |
Het |
| Cdkl4 |
T |
A |
17: 80,841,264 (GRCm39) |
K297I |
probably benign |
Het |
| Cep128 |
G |
A |
12: 91,314,340 (GRCm39) |
T146M |
probably damaging |
Het |
| Cfap161 |
T |
C |
7: 83,426,290 (GRCm39) |
N236S |
possibly damaging |
Het |
| Chil3 |
A |
T |
3: 106,071,572 (GRCm39) |
W31R |
probably damaging |
Het |
| Cmtm2b |
C |
T |
8: 105,049,353 (GRCm39) |
S86F |
probably damaging |
Het |
| Cntnap5a |
G |
A |
1: 116,374,362 (GRCm39) |
G958D |
probably damaging |
Het |
| Col6a5 |
A |
G |
9: 105,822,625 (GRCm39) |
L244P |
unknown |
Het |
| Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
| Cul9 |
A |
G |
17: 46,821,905 (GRCm39) |
Y1857H |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,208,964 (GRCm39) |
Q1154R |
probably damaging |
Het |
| Fgg |
G |
A |
3: 82,921,445 (GRCm39) |
G376D |
probably damaging |
Het |
| Fmn2 |
T |
C |
1: 174,526,356 (GRCm39) |
S1392P |
probably damaging |
Het |
| Focad |
T |
C |
4: 88,147,615 (GRCm39) |
V418A |
probably benign |
Het |
| Foxf1 |
A |
T |
8: 121,811,430 (GRCm39) |
H98L |
possibly damaging |
Het |
| Frmd4a |
C |
CA |
2: 4,599,408 (GRCm39) |
|
probably null |
Het |
| Fry |
C |
A |
5: 150,419,847 (GRCm39) |
T639K |
|
Het |
| Fryl |
A |
G |
5: 73,179,843 (GRCm39) |
|
probably null |
Het |
| Gdpd4 |
A |
G |
7: 97,607,012 (GRCm39) |
|
probably null |
Het |
| Gpt2 |
A |
G |
8: 86,246,145 (GRCm39) |
K368R |
probably damaging |
Het |
| Hc |
A |
T |
2: 34,881,278 (GRCm39) |
V1447E |
possibly damaging |
Het |
| Kmt5a |
A |
G |
5: 124,597,982 (GRCm39) |
T280A |
probably benign |
Het |
| Lrrc4b |
G |
T |
7: 44,111,234 (GRCm39) |
V369L |
probably benign |
Het |
| Ly6g5c |
A |
G |
17: 35,330,783 (GRCm39) |
M102V |
probably benign |
Het |
| Mib2 |
T |
C |
4: 155,739,267 (GRCm39) |
N904S |
probably benign |
Het |
| Mug2 |
G |
A |
6: 122,056,603 (GRCm39) |
V1183I |
probably damaging |
Het |
| Nckap1l |
C |
T |
15: 103,390,587 (GRCm39) |
T786I |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,224,504 (GRCm39) |
|
probably benign |
Het |
| Neu3 |
A |
G |
7: 99,463,174 (GRCm39) |
V183A |
probably benign |
Het |
| Nod1 |
A |
G |
6: 54,921,292 (GRCm39) |
L342P |
probably damaging |
Het |
| Nop58 |
T |
C |
1: 59,740,097 (GRCm39) |
V163A |
probably damaging |
Het |
| Npr3 |
C |
T |
15: 11,895,768 (GRCm39) |
G293R |
probably null |
Het |
| Obscn |
T |
A |
11: 58,952,253 (GRCm39) |
K3939* |
probably null |
Het |
| Or4d10c |
G |
A |
19: 12,065,370 (GRCm39) |
A262V |
probably benign |
Het |
| Or4g16 |
T |
A |
2: 111,136,793 (GRCm39) |
M81K |
probably damaging |
Het |
| Or5k16 |
A |
T |
16: 58,736,410 (GRCm39) |
M198K |
possibly damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,058 (GRCm39) |
I33T |
probably benign |
Het |
| Or8b12b |
T |
C |
9: 37,684,117 (GRCm39) |
L54P |
probably damaging |
Het |
| P2ry6 |
A |
G |
7: 100,587,784 (GRCm39) |
Y192H |
probably damaging |
Het |
| Paxbp1 |
A |
G |
16: 90,819,555 (GRCm39) |
|
probably null |
Het |
| Pign |
G |
A |
1: 105,577,092 (GRCm39) |
T197I |
probably benign |
Het |
| Pirb |
A |
T |
7: 3,716,817 (GRCm39) |
|
probably null |
Het |
| Pkdrej |
C |
A |
15: 85,703,122 (GRCm39) |
R938L |
possibly damaging |
Het |
| Psg21 |
A |
G |
7: 18,381,128 (GRCm39) |
*472R |
probably null |
Het |
| Rabgap1l |
A |
T |
1: 160,509,654 (GRCm39) |
S474R |
probably benign |
Het |
| Rrn3 |
C |
T |
16: 13,628,375 (GRCm39) |
Q519* |
probably null |
Het |
| Seh1l |
A |
T |
18: 67,908,188 (GRCm39) |
K37* |
probably null |
Het |
| Shprh |
A |
G |
10: 11,040,449 (GRCm39) |
S641G |
probably benign |
Het |
| Slc4a1 |
T |
G |
11: 102,243,403 (GRCm39) |
S743R |
probably damaging |
Het |
| Snx13 |
C |
T |
12: 35,174,534 (GRCm39) |
R688* |
probably null |
Het |
| Tlr11 |
C |
T |
14: 50,599,186 (GRCm39) |
Q391* |
probably null |
Het |
| Tmbim4 |
A |
G |
10: 120,053,471 (GRCm39) |
H90R |
probably benign |
Het |
| Trav8d-1 |
T |
C |
14: 53,016,326 (GRCm39) |
S71P |
possibly damaging |
Het |
| Trbv5 |
G |
A |
6: 41,039,617 (GRCm39) |
R74Q |
probably benign |
Het |
| Tril |
A |
G |
6: 53,795,921 (GRCm39) |
S434P |
probably benign |
Het |
| Uhmk1 |
A |
G |
1: 170,027,570 (GRCm39) |
Y376H |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,170,914 (GRCm39) |
C317R |
probably damaging |
Het |
| Vmp1 |
C |
T |
11: 86,476,225 (GRCm39) |
C377Y |
probably benign |
Het |
| Vwa8 |
A |
C |
14: 79,219,674 (GRCm39) |
|
probably null |
Het |
| Wdr41 |
T |
C |
13: 95,142,275 (GRCm39) |
S150P |
probably damaging |
Het |
| Zfp617 |
T |
A |
8: 72,685,864 (GRCm39) |
Y65N |
probably benign |
Het |
| Zfp800 |
A |
C |
6: 28,244,089 (GRCm39) |
V292G |
probably 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 |
|
|
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'- ATGAGAAGCATGTCCCATTTTC -3'
(R):5'- GACTGTCAGTATTGTCCTATCATGTTG -3'
Sequencing Primer
(F):5'- GAGAAGCATGTCCCATTTTCAGTCC -3'
(R):5'- CAGTATTGTCCTATCATGTTGTGATC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation