Incidental Mutation 'R6457:Malrd1'
| ID |
516503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Malrd1
|
| Ensembl Gene |
ENSMUSG00000075520 |
| Gene Name |
MAM and LDL receptor class A domain containing 1 |
| Synonyms |
Diet1, Gm13364, Gm13318 |
| MMRRC Submission |
044592-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6457 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
15526479-16255555 bp(+) (GRCm38) |
| Type of Mutation |
start gained |
| DNA Base Change (assembly) |
A to G
at 15526597 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
probably benign
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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192668
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.3%
|
| Validation Efficiency |
97% (63/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
A |
3: 138,066,622 (GRCm38) |
V524E |
probably damaging |
Het |
| Acer2 |
T |
A |
4: 86,900,571 (GRCm38) |
M152K |
probably damaging |
Het |
| Actn3 |
T |
C |
19: 4,871,848 (GRCm38) |
D130G |
probably damaging |
Het |
| Ank1 |
T |
A |
8: 23,087,967 (GRCm38) |
F211Y |
probably damaging |
Het |
| Ankfn1 |
C |
T |
11: 89,391,844 (GRCm38) |
A326T |
probably benign |
Het |
| Ankrd11 |
G |
A |
8: 122,908,764 (GRCm38) |
R44C |
probably damaging |
Het |
| Ankrd46 |
A |
G |
15: 36,484,071 (GRCm38) |
|
probably benign |
Het |
| Aurkb |
G |
A |
11: 69,048,346 (GRCm38) |
E132K |
possibly damaging |
Het |
| Bsdc1 |
C |
T |
4: 129,465,276 (GRCm38) |
T9I |
possibly damaging |
Het |
| Card14 |
C |
T |
11: 119,339,602 (GRCm38) |
R767* |
probably null |
Het |
| Ccdc82 |
T |
A |
9: 13,272,426 (GRCm38) |
F411L |
possibly damaging |
Het |
| Col12a1 |
C |
T |
9: 79,645,691 (GRCm38) |
G2106D |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,319,464 (GRCm38) |
|
probably benign |
Het |
| Cox10 |
A |
G |
11: 63,964,372 (GRCm38) |
L361P |
probably damaging |
Het |
| Cox18 |
A |
G |
5: 90,223,689 (GRCm38) |
I84T |
probably benign |
Het |
| Dhrs3 |
T |
C |
4: 144,919,952 (GRCm38) |
S125P |
probably damaging |
Het |
| Fbxl15 |
A |
G |
19: 46,329,326 (GRCm38) |
H149R |
probably benign |
Het |
| Flg2 |
T |
A |
3: 93,220,482 (GRCm38) |
S2234T |
unknown |
Het |
| Gtf2e1 |
A |
C |
16: 37,536,336 (GRCm38) |
|
probably null |
Het |
| H2-Q7 |
A |
T |
17: 35,439,679 (GRCm38) |
S98C |
probably damaging |
Het |
| Hcn2 |
G |
T |
10: 79,733,773 (GRCm38) |
E536* |
probably null |
Het |
| Kat6b |
A |
T |
14: 21,670,680 (GRCm38) |
H1700L |
probably damaging |
Het |
| Klhl3 |
C |
T |
13: 58,100,378 (GRCm38) |
V35I |
probably benign |
Het |
| Krt34 |
A |
T |
11: 100,040,090 (GRCm38) |
L162Q |
probably damaging |
Het |
| Ly9 |
A |
G |
1: 171,589,095 (GRCm38) |
S644P |
probably damaging |
Het |
| Magi1 |
A |
T |
6: 93,699,639 (GRCm38) |
V685E |
probably damaging |
Het |
| Matn2 |
T |
A |
15: 34,426,234 (GRCm38) |
C631S |
probably damaging |
Het |
| Megf8 |
A |
T |
7: 25,349,695 (GRCm38) |
D1739V |
probably damaging |
Het |
| Mlf1 |
G |
A |
3: 67,392,944 (GRCm38) |
R98Q |
probably benign |
Het |
| Mprip |
T |
A |
11: 59,758,989 (GRCm38) |
I1173K |
possibly damaging |
Het |
| Mrc1 |
A |
G |
2: 14,270,205 (GRCm38) |
D439G |
probably damaging |
Het |
| Mroh5 |
A |
T |
15: 73,790,842 (GRCm38) |
W208R |
probably damaging |
Het |
| Ms4a5 |
T |
G |
19: 11,279,282 (GRCm38) |
I84L |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,763,425 (GRCm38) |
|
probably null |
Het |
| Nbea |
T |
A |
3: 56,000,569 (GRCm38) |
H1374L |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,253,474 (GRCm38) |
I1095K |
probably benign |
Het |
| Nolc1 |
A |
G |
19: 46,083,070 (GRCm38) |
|
probably benign |
Het |
| Nr5a2 |
A |
G |
1: 136,960,238 (GRCm38) |
L18P |
probably benign |
Het |
| Nup188 |
G |
T |
2: 30,322,187 (GRCm38) |
C562F |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,080,771 (GRCm38) |
V2415A |
probably damaging |
Het |
| Pacsin2 |
A |
T |
15: 83,379,678 (GRCm38) |
|
probably null |
Het |
| Pias3 |
A |
G |
3: 96,699,523 (GRCm38) |
H34R |
possibly damaging |
Het |
| Ppfia2 |
T |
C |
10: 106,893,500 (GRCm38) |
V903A |
probably damaging |
Het |
| Pramel1 |
T |
A |
4: 143,396,705 (GRCm38) |
L84Q |
probably damaging |
Het |
| Pramel6 |
G |
A |
2: 87,509,438 (GRCm38) |
C182Y |
probably damaging |
Het |
| Prdm4 |
A |
G |
10: 85,908,032 (GRCm38) |
Y120H |
probably damaging |
Het |
| Prss28 |
A |
G |
17: 25,311,357 (GRCm38) |
M212V |
probably benign |
Het |
| Rbp3 |
G |
T |
14: 33,955,267 (GRCm38) |
G391* |
probably null |
Het |
| Rc3h2 |
C |
T |
2: 37,411,139 (GRCm38) |
|
probably null |
Het |
| Ret |
A |
G |
6: 118,173,621 (GRCm38) |
F645L |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,865,169 (GRCm38) |
S402P |
possibly damaging |
Het |
| Shc3 |
T |
A |
13: 51,482,879 (GRCm38) |
|
probably null |
Het |
| Slc25a16 |
A |
G |
10: 62,941,159 (GRCm38) |
N246S |
probably benign |
Het |
| Snrpd1 |
T |
A |
18: 10,623,694 (GRCm38) |
H26Q |
probably benign |
Het |
| Tex45 |
T |
C |
8: 3,479,268 (GRCm38) |
L251P |
probably damaging |
Het |
| Thsd1 |
A |
G |
8: 22,243,347 (GRCm38) |
T137A |
probably damaging |
Het |
| Tnik |
A |
T |
3: 28,539,448 (GRCm38) |
H151L |
probably damaging |
Het |
| Tns1 |
T |
A |
1: 73,918,050 (GRCm38) |
K1725N |
probably damaging |
Het |
| Tomm40l |
T |
A |
1: 171,220,592 (GRCm38) |
T147S |
probably damaging |
Het |
| Tomm6 |
G |
T |
17: 47,688,007 (GRCm38) |
|
probably benign |
Het |
| Trp53 |
G |
A |
11: 69,589,614 (GRCm38) |
C272Y |
probably damaging |
Het |
| Trpm7 |
A |
T |
2: 126,807,294 (GRCm38) |
V1492E |
probably benign |
Het |
| Tsen2 |
G |
A |
6: 115,559,631 (GRCm38) |
R116H |
probably benign |
Het |
| Uvrag |
A |
G |
7: 98,906,519 (GRCm38) |
F456S |
probably damaging |
Het |
| Vmn1r86 |
A |
T |
7: 13,102,352 (GRCm38) |
M199K |
possibly damaging |
Het |
| Vmn2r4 |
C |
T |
3: 64,409,957 (GRCm38) |
C120Y |
probably damaging |
Het |
|
| Other mutations in Malrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Malrd1
|
APN |
2 |
16,142,186 (GRCm38) |
splice site |
probably benign |
|
|
IGL01295:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01296:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01399:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01400:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01401:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01402:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01405:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01406:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02105:Malrd1
|
APN |
2 |
16,127,863 (GRCm38) |
missense |
unknown |
|
|
IGL02581:Malrd1
|
APN |
2 |
16,142,312 (GRCm38) |
nonsense |
probably null |
|
|
IGL03015:Malrd1
|
APN |
2 |
16,042,271 (GRCm38) |
missense |
unknown |
|
|
IGL03038:Malrd1
|
APN |
2 |
16,127,967 (GRCm38) |
missense |
unknown |
|
|
R1353:Malrd1
|
UTSW |
2 |
16,127,968 (GRCm38) |
missense |
unknown |
|
|
R1385:Malrd1
|
UTSW |
2 |
16,042,228 (GRCm38) |
missense |
unknown |
|
|
R2242:Malrd1
|
UTSW |
2 |
16,101,944 (GRCm38) |
missense |
unknown |
|
|
R2888:Malrd1
|
UTSW |
2 |
16,074,757 (GRCm38) |
missense |
unknown |
|
|
R4398:Malrd1
|
UTSW |
2 |
16,150,783 (GRCm38) |
missense |
unknown |
|
|
R4982:Malrd1
|
UTSW |
2 |
16,042,129 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5148:Malrd1
|
UTSW |
2 |
16,142,226 (GRCm38) |
missense |
unknown |
|
|
R5195:Malrd1
|
UTSW |
2 |
16,150,810 (GRCm38) |
missense |
unknown |
|
|
R5828:Malrd1
|
UTSW |
2 |
15,526,653 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5892:Malrd1
|
UTSW |
2 |
15,614,267 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6034:Malrd1
|
UTSW |
2 |
15,845,326 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6034:Malrd1
|
UTSW |
2 |
15,845,326 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6195:Malrd1
|
UTSW |
2 |
15,695,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6318:Malrd1
|
UTSW |
2 |
16,042,267 (GRCm38) |
missense |
unknown |
|
|
R6438:Malrd1
|
UTSW |
2 |
15,614,206 (GRCm38) |
missense |
|
|
|
R6457:Malrd1
|
UTSW |
2 |
15,667,929 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6499:Malrd1
|
UTSW |
2 |
15,931,689 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6575:Malrd1
|
UTSW |
2 |
15,842,628 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6792:Malrd1
|
UTSW |
2 |
16,150,756 (GRCm38) |
missense |
unknown |
|
|
R6796:Malrd1
|
UTSW |
2 |
15,869,784 (GRCm38) |
missense |
unknown |
|
|
R6930:Malrd1
|
UTSW |
2 |
15,797,667 (GRCm38) |
missense |
unknown |
|
|
R6959:Malrd1
|
UTSW |
2 |
16,218,009 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6993:Malrd1
|
UTSW |
2 |
16,150,791 (GRCm38) |
missense |
unknown |
|
|
R7102:Malrd1
|
UTSW |
2 |
16,142,303 (GRCm38) |
missense |
unknown |
|
|
R7112:Malrd1
|
UTSW |
2 |
15,925,176 (GRCm38) |
missense |
unknown |
|
|
R7248:Malrd1
|
UTSW |
2 |
16,101,911 (GRCm38) |
missense |
unknown |
|
|
R7249:Malrd1
|
UTSW |
2 |
15,623,340 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7334:Malrd1
|
UTSW |
2 |
16,006,718 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7394:Malrd1
|
UTSW |
2 |
15,695,199 (GRCm38) |
missense |
unknown |
|
|
R7399:Malrd1
|
UTSW |
2 |
15,610,090 (GRCm38) |
missense |
|
|
|
R7476:Malrd1
|
UTSW |
2 |
16,142,304 (GRCm38) |
missense |
unknown |
|
|
R7582:Malrd1
|
UTSW |
2 |
15,695,270 (GRCm38) |
missense |
unknown |
|
|
R7604:Malrd1
|
UTSW |
2 |
15,925,192 (GRCm38) |
missense |
unknown |
|
|
R7662:Malrd1
|
UTSW |
2 |
15,871,454 (GRCm38) |
missense |
unknown |
|
|
R7681:Malrd1
|
UTSW |
2 |
16,218,102 (GRCm38) |
missense |
unknown |
|
|
R7740:Malrd1
|
UTSW |
2 |
15,614,215 (GRCm38) |
missense |
not run |
|
|
R7747:Malrd1
|
UTSW |
2 |
16,074,835 (GRCm38) |
missense |
unknown |
|
|
R7754:Malrd1
|
UTSW |
2 |
15,797,799 (GRCm38) |
splice site |
probably null |
|
|
R7950:Malrd1
|
UTSW |
2 |
16,128,068 (GRCm38) |
missense |
unknown |
|
|
R8194:Malrd1
|
UTSW |
2 |
15,925,120 (GRCm38) |
missense |
unknown |
|
|
R8260:Malrd1
|
UTSW |
2 |
15,614,206 (GRCm38) |
missense |
|
|
|
R8314:Malrd1
|
UTSW |
2 |
15,752,832 (GRCm38) |
missense |
unknown |
|
|
R8342:Malrd1
|
UTSW |
2 |
15,633,224 (GRCm38) |
missense |
unknown |
|
|
R8386:Malrd1
|
UTSW |
2 |
15,696,844 (GRCm38) |
missense |
unknown |
|
|
R8492:Malrd1
|
UTSW |
2 |
15,610,123 (GRCm38) |
missense |
|
|
|
R8728:Malrd1
|
UTSW |
2 |
15,696,942 (GRCm38) |
nonsense |
probably null |
|
|
R8756:Malrd1
|
UTSW |
2 |
15,752,895 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8869:Malrd1
|
UTSW |
2 |
15,565,557 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8888:Malrd1
|
UTSW |
2 |
15,845,227 (GRCm38) |
missense |
unknown |
|
|
R8895:Malrd1
|
UTSW |
2 |
15,845,227 (GRCm38) |
missense |
unknown |
|
|
R8902:Malrd1
|
UTSW |
2 |
16,255,334 (GRCm38) |
nonsense |
probably null |
|
|
R8954:Malrd1
|
UTSW |
2 |
15,551,367 (GRCm38) |
missense |
|
|
|
R8960:Malrd1
|
UTSW |
2 |
15,565,430 (GRCm38) |
nonsense |
probably null |
|
|
R9005:Malrd1
|
UTSW |
2 |
15,845,329 (GRCm38) |
missense |
unknown |
|
|
R9135:Malrd1
|
UTSW |
2 |
15,797,705 (GRCm38) |
missense |
unknown |
|
|
R9267:Malrd1
|
UTSW |
2 |
16,255,266 (GRCm38) |
missense |
unknown |
|
|
R9330:Malrd1
|
UTSW |
2 |
16,255,278 (GRCm38) |
missense |
unknown |
|
|
R9359:Malrd1
|
UTSW |
2 |
15,614,177 (GRCm38) |
missense |
|
|
|
R9383:Malrd1
|
UTSW |
2 |
15,695,201 (GRCm38) |
missense |
unknown |
|
|
R9389:Malrd1
|
UTSW |
2 |
15,703,156 (GRCm38) |
missense |
unknown |
|
|
R9403:Malrd1
|
UTSW |
2 |
15,614,177 (GRCm38) |
missense |
|
|
|
R9454:Malrd1
|
UTSW |
2 |
15,797,726 (GRCm38) |
nonsense |
probably null |
|
|
R9454:Malrd1
|
UTSW |
2 |
15,752,849 (GRCm38) |
missense |
unknown |
|
|
R9520:Malrd1
|
UTSW |
2 |
16,074,820 (GRCm38) |
missense |
unknown |
|
|
R9544:Malrd1
|
UTSW |
2 |
15,635,998 (GRCm38) |
missense |
unknown |
|
|
R9609:Malrd1
|
UTSW |
2 |
15,695,270 (GRCm38) |
missense |
unknown |
|
|
R9667:Malrd1
|
UTSW |
2 |
15,565,215 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9721:Malrd1
|
UTSW |
2 |
15,696,827 (GRCm38) |
missense |
unknown |
|
|
R9787:Malrd1
|
UTSW |
2 |
15,620,590 (GRCm38) |
missense |
unknown |
|
|
R9800:Malrd1
|
UTSW |
2 |
15,842,594 (GRCm38) |
missense |
unknown |
|
|
Z1176:Malrd1
|
UTSW |
2 |
16,217,845 (GRCm38) |
missense |
unknown |
|
|
Z1191:Malrd1
|
UTSW |
2 |
16,042,226 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
|
| Posted On |
2018-05-21 |
Incidental Mutation