Incidental Mutation 'R8492:Malrd1'
ID |
658026 |
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 |
067934-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R8492 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
15531290-16260366 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 15614934 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 250
(S250A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
AlphaFold |
A2AJX4 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000116869 Gene: ENSMUSG00000075520 AA Change: S250A
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (68/68) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
9330159F19Rik |
G |
A |
10: 29,094,243 (GRCm39) |
R43K |
possibly damaging |
Het |
Abcc2 |
A |
T |
19: 43,793,410 (GRCm39) |
Y354F |
probably benign |
Het |
Aloxe3 |
A |
T |
11: 69,017,301 (GRCm39) |
T25S |
possibly damaging |
Het |
Als2 |
T |
C |
1: 59,250,503 (GRCm39) |
K414E |
probably damaging |
Het |
Ankmy2 |
A |
T |
12: 36,226,590 (GRCm39) |
I95F |
probably damaging |
Het |
Ankrd35 |
T |
G |
3: 96,589,529 (GRCm39) |
|
probably null |
Het |
Ap3b1 |
A |
G |
13: 94,531,294 (GRCm39) |
N91S |
possibly damaging |
Het |
Apip |
T |
A |
2: 102,922,866 (GRCm39) |
L228H |
probably damaging |
Het |
Arhgap23 |
A |
G |
11: 97,365,847 (GRCm39) |
Y488C |
probably damaging |
Het |
Asah2 |
G |
A |
19: 31,983,659 (GRCm39) |
T595M |
probably benign |
Het |
Ccdc174 |
G |
C |
6: 91,865,138 (GRCm39) |
R132T |
probably benign |
Het |
Ccng2 |
A |
C |
5: 93,419,313 (GRCm39) |
H233P |
probably damaging |
Het |
Cemip |
A |
G |
7: 83,622,422 (GRCm39) |
F586L |
probably damaging |
Het |
Cenpf |
A |
G |
1: 189,390,926 (GRCm39) |
S969P |
probably damaging |
Het |
Cep170b |
G |
A |
12: 112,711,134 (GRCm39) |
D1505N |
probably damaging |
Het |
Colec12 |
T |
A |
18: 9,876,980 (GRCm39) |
|
probably null |
Het |
Cytip |
A |
G |
2: 58,027,869 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
A |
T |
6: 38,167,525 (GRCm39) |
S1026T |
probably damaging |
Het |
Disc1 |
T |
A |
8: 125,817,177 (GRCm39) |
D372E |
probably damaging |
Het |
Dlgap2 |
A |
T |
8: 14,828,271 (GRCm39) |
M560L |
possibly damaging |
Het |
Dync2li1 |
C |
A |
17: 84,957,134 (GRCm39) |
|
probably null |
Het |
Eif3c |
C |
T |
7: 126,162,282 (GRCm39) |
G180D |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
G6pc2 |
A |
G |
2: 69,050,586 (GRCm39) |
I70M |
probably damaging |
Het |
Gm5145 |
A |
T |
17: 20,790,681 (GRCm39) |
I20F |
probably damaging |
Het |
Hba-x |
T |
A |
11: 32,227,921 (GRCm39) |
F128L |
probably benign |
Het |
Hspb1 |
G |
A |
5: 135,918,222 (GRCm39) |
E190K |
possibly damaging |
Het |
Ift122 |
T |
A |
6: 115,863,966 (GRCm39) |
S246T |
probably benign |
Het |
Inppl1 |
A |
T |
7: 101,475,985 (GRCm39) |
S828T |
probably damaging |
Het |
Krt84 |
C |
A |
15: 101,438,051 (GRCm39) |
Q301H |
probably damaging |
Het |
Mettl21e |
A |
G |
1: 44,245,553 (GRCm39) |
I231T |
probably damaging |
Het |
Miip |
T |
C |
4: 147,945,881 (GRCm39) |
D341G |
probably damaging |
Het |
Ncoa1 |
T |
C |
12: 4,313,473 (GRCm39) |
D1287G |
probably damaging |
Het |
Ndufb5 |
T |
G |
3: 32,805,377 (GRCm39) |
|
probably null |
Het |
Neb |
T |
C |
2: 52,203,224 (GRCm39) |
E309G |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,299,248 (GRCm39) |
F199I |
probably benign |
Het |
Or12k7 |
T |
A |
2: 36,958,695 (GRCm39) |
I126N |
probably damaging |
Het |
Pcdhgc3 |
T |
A |
18: 37,940,347 (GRCm39) |
Y249* |
probably null |
Het |
Plekhg3 |
G |
T |
12: 76,622,790 (GRCm39) |
V677L |
probably benign |
Het |
Ppm1f |
T |
C |
16: 16,733,042 (GRCm39) |
Y25H |
probably damaging |
Het |
Prok2 |
A |
T |
6: 99,691,437 (GRCm39) |
H75Q |
probably benign |
Het |
Ralgapa2 |
A |
T |
2: 146,184,524 (GRCm39) |
H1494Q |
possibly damaging |
Het |
Rapgef6 |
T |
G |
11: 54,581,063 (GRCm39) |
I1277S |
probably damaging |
Het |
Rhob |
G |
T |
12: 8,549,531 (GRCm39) |
Y34* |
probably null |
Het |
Rnf141 |
T |
G |
7: 110,436,407 (GRCm39) |
D7A |
probably benign |
Het |
Robo1 |
T |
C |
16: 72,809,911 (GRCm39) |
S1220P |
probably benign |
Het |
Rpl13a |
A |
G |
7: 44,775,945 (GRCm39) |
V48A |
possibly damaging |
Het |
Serpinb9f |
C |
A |
13: 33,518,587 (GRCm39) |
H362Q |
probably damaging |
Het |
Shld2 |
T |
A |
14: 33,967,189 (GRCm39) |
K122N |
probably damaging |
Het |
Slc22a8 |
G |
T |
19: 8,571,595 (GRCm39) |
V109L |
probably damaging |
Het |
Slc5a10 |
A |
G |
11: 61,564,809 (GRCm39) |
V390A |
probably benign |
Het |
Snx14 |
T |
C |
9: 88,263,869 (GRCm39) |
N839D |
possibly damaging |
Het |
Taf1c |
G |
A |
8: 120,325,456 (GRCm39) |
T802I |
probably benign |
Het |
Tdh |
C |
A |
14: 63,730,269 (GRCm39) |
D337Y |
probably damaging |
Het |
Tmem156 |
A |
T |
5: 65,222,438 (GRCm39) |
Y255N |
possibly damaging |
Het |
Tmpo |
C |
A |
10: 90,997,720 (GRCm39) |
R689L |
probably benign |
Het |
Trim56 |
A |
C |
5: 137,141,783 (GRCm39) |
C578G |
probably benign |
Het |
Triobp |
C |
T |
15: 78,878,326 (GRCm39) |
H1750Y |
possibly damaging |
Het |
Trpv3 |
G |
A |
11: 73,179,035 (GRCm39) |
W481* |
probably null |
Het |
Tssk3 |
T |
C |
4: 129,383,445 (GRCm39) |
M76V |
probably benign |
Het |
Vmn1r215 |
A |
T |
13: 23,260,056 (GRCm39) |
Y32F |
possibly damaging |
Het |
Vmn1r53 |
A |
G |
6: 90,200,394 (GRCm39) |
I310T |
possibly damaging |
Het |
Vmn2r112 |
A |
G |
17: 22,821,470 (GRCm39) |
T148A |
probably benign |
Het |
Zdhhc14 |
G |
A |
17: 5,762,689 (GRCm39) |
V198I |
probably damaging |
Het |
Zfp109 |
T |
C |
7: 23,927,499 (GRCm39) |
R637G |
possibly damaging |
Het |
Zic5 |
G |
T |
14: 122,702,474 (GRCm39) |
Q86K |
unknown |
Het |
Zzef1 |
T |
A |
11: 72,777,572 (GRCm39) |
M1801K |
probably damaging |
Het |
Zzef1 |
T |
G |
11: 72,763,430 (GRCm39) |
V1359G |
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 |
|
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 |
|
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'- AGCATCTGTATCTGCCGATG -3'
(R):5'- CCCTGGCTTAAAGACTTAATGC -3'
Sequencing Primer
(F):5'- GCAAGCATCATGTCCCAGTTGTAG -3'
(R):5'- TGATCCTGCCAAGGTACA -3'
|
Posted On |
2021-01-18 |