Incidental Mutation 'R6318:Malrd1'
| ID |
510259 |
| 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 |
044473-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6318 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
15526479-16255555 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 16042267 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 1735
(S1735A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000146205
AA Change: S1735A
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: S1735A
| 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: 99.1%
- 20x: 97.3%
|
| Validation Efficiency |
99% (74/75) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,393,275 (GRCm38) |
T13A |
possibly damaging |
Het |
| Abcg4 |
T |
C |
9: 44,275,348 (GRCm38) |
T500A |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 55,769,224 (GRCm38) |
I1051F |
probably damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,467,497 (GRCm38) |
N235K |
probably benign |
Het |
| Aldh3a2 |
A |
C |
11: 61,262,419 (GRCm38) |
Y160* |
probably null |
Het |
| Arhgef4 |
G |
A |
1: 34,723,477 (GRCm38) |
A605T |
unknown |
Het |
| Armt1 |
T |
C |
10: 4,450,859 (GRCm38) |
M202T |
probably benign |
Het |
| Brd2 |
C |
A |
17: 34,112,898 (GRCm38) |
V349F |
probably damaging |
Het |
| Btnl10 |
A |
T |
11: 58,926,865 (GRCm38) |
|
probably benign |
Het |
| Ccdc178 |
A |
G |
18: 22,120,534 (GRCm38) |
V216A |
possibly damaging |
Het |
| Ccdc85c |
A |
T |
12: 108,274,709 (GRCm38) |
L142Q |
unknown |
Het |
| Cdc27 |
A |
T |
11: 104,528,694 (GRCm38) |
S172T |
probably damaging |
Het |
| Ceacam14 |
T |
C |
7: 17,814,312 (GRCm38) |
I109T |
probably damaging |
Het |
| Ces5a |
C |
T |
8: 93,534,583 (GRCm38) |
G72E |
probably damaging |
Het |
| Cfb |
A |
G |
17: 34,861,824 (GRCm38) |
Y66H |
possibly damaging |
Het |
| Clec14a |
G |
A |
12: 58,268,215 (GRCm38) |
P207L |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,630,788 (GRCm38) |
R599H |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,903,212 (GRCm38) |
I3423N |
probably damaging |
Het |
| Cyp4a29 |
C |
A |
4: 115,250,199 (GRCm38) |
N243K |
probably benign |
Het |
| Ddx59 |
T |
C |
1: 136,416,872 (GRCm38) |
F94L |
probably damaging |
Het |
| Dusp3 |
A |
C |
11: 101,986,871 (GRCm38) |
V19G |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,916,984 (GRCm38) |
|
probably benign |
Het |
| Fgfr4 |
T |
A |
13: 55,166,108 (GRCm38) |
V545E |
probably damaging |
Het |
| Fxn |
G |
T |
19: 24,280,426 (GRCm38) |
A47D |
probably damaging |
Het |
| Gdpgp1 |
A |
T |
7: 80,239,150 (GRCm38) |
I310F |
possibly damaging |
Het |
| Gm7210 |
A |
T |
7: 11,594,113 (GRCm38) |
|
noncoding transcript |
Het |
| Grm7 |
G |
T |
6: 111,358,875 (GRCm38) |
C749F |
probably damaging |
Het |
| Hps4 |
T |
G |
5: 112,346,629 (GRCm38) |
V26G |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 68,165,233 (GRCm38) |
D294G |
probably benign |
Het |
| Immp1l |
T |
C |
2: 105,930,827 (GRCm38) |
F27S |
probably benign |
Het |
| Kcnk3 |
T |
A |
5: 30,622,586 (GRCm38) |
C327S |
probably damaging |
Het |
| Kif13a |
T |
A |
13: 46,815,207 (GRCm38) |
|
probably null |
Het |
| Krtap5-4 |
T |
C |
7: 142,304,090 (GRCm38) |
S166P |
unknown |
Het |
| Lyst |
G |
A |
13: 13,743,311 (GRCm38) |
D3319N |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,243,442 (GRCm38) |
T308A |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,299,341 (GRCm38) |
Q1269L |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,890,831 (GRCm38) |
V1367I |
probably damaging |
Het |
| Nae1 |
T |
C |
8: 104,523,637 (GRCm38) |
D208G |
probably benign |
Het |
| Nelfe |
T |
A |
17: 34,854,456 (GRCm38) |
V296D |
probably damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,607,461 (GRCm38) |
R284G |
probably benign |
Het |
| Npepps |
A |
T |
11: 97,218,548 (GRCm38) |
V734E |
probably damaging |
Het |
| Ogdh |
A |
G |
11: 6,349,390 (GRCm38) |
N752S |
probably damaging |
Het |
| Or11i1 |
T |
C |
3: 106,822,187 (GRCm38) |
D124G |
probably damaging |
Het |
| Or3a1b |
A |
T |
11: 74,121,721 (GRCm38) |
Q144L |
possibly damaging |
Het |
| Or5t9 |
A |
G |
2: 86,829,654 (GRCm38) |
I301V |
possibly damaging |
Het |
| Or8b1 |
T |
C |
9: 38,488,377 (GRCm38) |
M116T |
probably benign |
Het |
| Otof |
C |
A |
5: 30,414,544 (GRCm38) |
G171V |
probably damaging |
Het |
| Phtf2 |
A |
T |
5: 20,801,941 (GRCm38) |
V208D |
probably damaging |
Het |
| Pkn1 |
T |
A |
8: 83,683,591 (GRCm38) |
T340S |
probably damaging |
Het |
| Plcd4 |
C |
T |
1: 74,563,594 (GRCm38) |
L668F |
possibly damaging |
Het |
| Plch1 |
C |
T |
3: 63,781,390 (GRCm38) |
W131* |
probably null |
Het |
| Prss50 |
A |
T |
9: 110,861,299 (GRCm38) |
D170V |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 12,237,118 (GRCm38) |
V604A |
probably damaging |
Het |
| Rab33b |
T |
C |
3: 51,493,405 (GRCm38) |
V100A |
probably damaging |
Het |
| Rbm26 |
T |
A |
14: 105,131,535 (GRCm38) |
D736V |
probably damaging |
Het |
| Rela |
C |
A |
19: 5,646,964 (GRCm38) |
P400T |
probably benign |
Het |
| Rpusd4 |
T |
C |
9: 35,268,038 (GRCm38) |
L50P |
probably damaging |
Het |
| Scn10a |
A |
C |
9: 119,627,115 (GRCm38) |
Y1214D |
probably damaging |
Het |
| Sema3c |
A |
G |
5: 17,672,432 (GRCm38) |
E179G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,517,133 (GRCm38) |
D1253V |
unknown |
Het |
| Sp4 |
G |
T |
12: 118,238,178 (GRCm38) |
P771H |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,278,378 (GRCm38) |
Y263F |
probably damaging |
Het |
| Ssbp1 |
G |
A |
6: 40,476,753 (GRCm38) |
V78I |
probably benign |
Het |
| St3gal6 |
A |
G |
16: 58,486,406 (GRCm38) |
I87T |
probably benign |
Het |
| Tango6 |
T |
A |
8: 106,818,497 (GRCm38) |
D997E |
probably benign |
Het |
| Tpr |
C |
T |
1: 150,445,888 (GRCm38) |
P2265S |
possibly damaging |
Het |
| Ttc7b |
A |
T |
12: 100,325,677 (GRCm38) |
F212Y |
probably damaging |
Het |
| Ubc |
A |
G |
5: 125,388,260 (GRCm38) |
M1T |
probably null |
Het |
| Vill |
G |
C |
9: 119,063,648 (GRCm38) |
Q376H |
probably benign |
Het |
| Yes1 |
T |
C |
5: 32,651,686 (GRCm38) |
I132T |
possibly damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,860,377 (GRCm38) |
T830A |
probably benign |
Het |
| Zbtb41 |
T |
A |
1: 139,430,306 (GRCm38) |
F451I |
possibly damaging |
Het |
| Zfp995 |
C |
T |
17: 21,880,512 (GRCm38) |
C247Y |
probably benign |
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 |
|
R6438:Malrd1
|
UTSW |
2 |
15,614,206 (GRCm38) |
missense |
|
|
|
R6457:Malrd1
|
UTSW |
2 |
15,667,929 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6457:Malrd1
|
UTSW |
2 |
15,526,597 (GRCm38) |
start gained |
probably benign |
|
|
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 |
PCR Primer
(F):5'- TATAGTGAGGCATAGAGTCTTGTAG -3'
(R):5'- AGAAATGTGATTCTGTCAGGAGC -3'
Sequencing Primer
(F):5'- AGACATTTTATGATGCTGGTGTGTAC -3'
(R):5'- GTGATTCTGTCAGGAGCTAATTAAAG -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation