Incidental Mutation 'R5195:Malrd1'
| ID |
400051 |
| 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 |
042771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R5195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
15531290-16260366 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 16155621 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 2010
(T2010M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000146205
AA Change: T2010M
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: T2010M
| 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 |
0.0869 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (72/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoo-ps |
T |
C |
13: 107,551,053 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef40 |
T |
A |
14: 52,227,269 (GRCm39) |
S438T |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,601,305 (GRCm39) |
L358P |
possibly damaging |
Het |
| Bicra |
G |
A |
7: 15,713,878 (GRCm39) |
P775S |
possibly damaging |
Het |
| Ccdc78 |
T |
A |
17: 26,008,962 (GRCm39) |
|
probably null |
Het |
| Ccnb1-ps |
T |
A |
7: 41,755,522 (GRCm39) |
|
noncoding transcript |
Het |
| Cct6a |
A |
T |
5: 129,871,718 (GRCm39) |
|
noncoding transcript |
Het |
| Cep120 |
T |
A |
18: 53,854,770 (GRCm39) |
H455L |
probably damaging |
Het |
| Cobl |
C |
T |
11: 12,203,565 (GRCm39) |
V964I |
probably benign |
Het |
| Cpt1a |
A |
T |
19: 3,433,800 (GRCm39) |
I761F |
possibly damaging |
Het |
| Crk |
T |
A |
11: 75,570,289 (GRCm39) |
Y14N |
probably damaging |
Het |
| Deup1 |
A |
T |
9: 15,486,487 (GRCm39) |
Y398N |
possibly damaging |
Het |
| Efcab15 |
T |
C |
11: 103,089,794 (GRCm39) |
Y381C |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,366,510 (GRCm39) |
G980D |
possibly damaging |
Het |
| Fanca |
A |
G |
8: 124,030,684 (GRCm39) |
|
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,267,398 (GRCm39) |
D507V |
probably benign |
Het |
| Gtf2i |
A |
T |
5: 134,273,686 (GRCm39) |
L740* |
probably null |
Het |
| Hmgn2 |
C |
A |
4: 133,694,597 (GRCm39) |
A8S |
probably benign |
Het |
| Hook2 |
A |
T |
8: 85,721,405 (GRCm39) |
N252I |
probably damaging |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,510 (GRCm39) |
T39S |
probably damaging |
Het |
| Inpp5j |
A |
C |
11: 3,449,889 (GRCm39) |
|
probably null |
Het |
| Insyn2a |
A |
T |
7: 134,486,145 (GRCm39) |
F469I |
probably damaging |
Het |
| Kbtbd3 |
G |
C |
9: 4,316,905 (GRCm39) |
E19Q |
possibly damaging |
Het |
| Kcns2 |
G |
A |
15: 34,839,677 (GRCm39) |
A347T |
possibly damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,572 (GRCm39) |
E96G |
possibly damaging |
Het |
| Kptn |
A |
G |
7: 15,857,028 (GRCm39) |
Y172C |
probably damaging |
Het |
| Krt86 |
T |
A |
15: 101,374,814 (GRCm39) |
M328K |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,071,795 (GRCm39) |
D894G |
probably benign |
Het |
| Lars2 |
T |
C |
9: 123,282,375 (GRCm39) |
V653A |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,050,374 (GRCm39) |
V384D |
probably damaging |
Het |
| Maml2 |
T |
A |
9: 13,532,410 (GRCm39) |
N541K |
probably damaging |
Het |
| Med24 |
T |
C |
11: 98,601,107 (GRCm39) |
K585R |
possibly damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,846 (GRCm39) |
S177L |
unknown |
Het |
| Mylk |
T |
A |
16: 34,799,585 (GRCm39) |
F1658L |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,951,676 (GRCm39) |
V4392I |
possibly damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,975 (GRCm39) |
S31P |
probably benign |
Het |
| Or11g2 |
T |
C |
14: 50,856,243 (GRCm39) |
L188P |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,528,288 (GRCm39) |
F1311I |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,974 (GRCm39) |
L521P |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,115,629 (GRCm39) |
T445A |
possibly damaging |
Het |
| Pgam5 |
A |
T |
5: 110,413,854 (GRCm39) |
L103* |
probably null |
Het |
| Pkd2 |
G |
A |
5: 104,634,547 (GRCm39) |
R526Q |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,634,905 (GRCm39) |
Y618C |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,677,450 (GRCm39) |
E43V |
probably damaging |
Het |
| Pramel5 |
T |
A |
4: 143,998,311 (GRCm39) |
M311L |
probably benign |
Het |
| Rbbp8 |
T |
C |
18: 11,855,208 (GRCm39) |
F478L |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryk |
T |
C |
9: 102,744,812 (GRCm39) |
V122A |
probably benign |
Het |
| Sik3 |
G |
T |
9: 46,120,142 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc35e4 |
T |
A |
11: 3,862,872 (GRCm39) |
I106F |
possibly damaging |
Het |
| Slc41a3 |
T |
C |
6: 90,610,653 (GRCm39) |
S172P |
probably damaging |
Het |
| Snrnp70 |
T |
A |
7: 45,044,134 (GRCm39) |
K32N |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,008,704 (GRCm39) |
Y1945H |
probably benign |
Het |
| St7 |
A |
G |
6: 17,743,636 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
A |
14: 30,862,478 (GRCm39) |
|
probably benign |
Het |
| Taf13 |
G |
A |
3: 108,488,390 (GRCm39) |
R91Q |
probably damaging |
Het |
| Tmem200a |
T |
C |
10: 25,954,854 (GRCm39) |
|
probably benign |
Het |
| Tnc |
A |
T |
4: 63,885,489 (GRCm39) |
L1871Q |
probably damaging |
Het |
| Toe1 |
T |
C |
4: 116,661,852 (GRCm39) |
H439R |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,887,441 (GRCm39) |
V893A |
possibly damaging |
Het |
| Ubr3 |
G |
A |
2: 69,786,378 (GRCm39) |
A831T |
probably benign |
Het |
| Wdr89 |
C |
T |
12: 75,680,062 (GRCm39) |
R64Q |
probably benign |
Het |
| Zbed5 |
G |
T |
5: 129,931,019 (GRCm39) |
V323F |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,891,647 (GRCm39) |
R287G |
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 |
|
|
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 |
|
|
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'- ACCATCTAGAACACCAGGGG -3'
(R):5'- CCACGTGCTAGAAAATGTTGAAAAC -3'
Sequencing Primer
(F):5'- CCCTGGTCAGAGTGGAAGTG -3'
(R):5'- TGCAACAAACACCCAATATTTCTTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation