Incidental Mutation 'R9005:Malrd1'
ID |
685191 |
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 |
068835-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.078)
|
Stock # |
R9005 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
15531290-16260366 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 15850140 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 1253
(N1253I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
AlphaFold |
A2AJX4 |
Predicted Effect |
unknown
Transcript: ENSMUST00000146205
AA Change: N1253I
|
SMART Domains |
Protein: ENSMUSP00000116869 Gene: ENSMUSG00000075520 AA Change: N1253I
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: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
99% (80/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 81 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110059E24Rik |
C |
T |
19: 21,630,075 (GRCm39) |
|
probably benign |
Het |
Abcd4 |
C |
T |
12: 84,655,356 (GRCm39) |
W369* |
probably null |
Het |
Abcf3 |
A |
G |
16: 20,368,056 (GRCm39) |
E98G |
probably benign |
Het |
Acaca |
A |
T |
11: 84,262,410 (GRCm39) |
D2004V |
probably damaging |
Het |
Acot5 |
G |
C |
12: 84,116,630 (GRCm39) |
M130I |
|
Het |
Adamts3 |
C |
T |
5: 89,825,693 (GRCm39) |
E1049K |
probably benign |
Het |
Agfg2 |
A |
T |
5: 137,650,744 (GRCm39) |
L456Q |
probably damaging |
Het |
Agtr1b |
T |
A |
3: 20,370,343 (GRCm39) |
T88S |
possibly damaging |
Het |
Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
Ankrd61 |
T |
A |
5: 143,831,676 (GRCm39) |
T43S |
probably benign |
Het |
Apcs |
A |
G |
1: 172,721,776 (GRCm39) |
L190P |
probably benign |
Het |
Arsg |
A |
G |
11: 109,381,346 (GRCm39) |
K30E |
probably benign |
Het |
Banp |
A |
T |
8: 122,705,441 (GRCm39) |
M104L |
possibly damaging |
Het |
Caskin1 |
A |
G |
17: 24,718,111 (GRCm39) |
Q268R |
probably benign |
Het |
Ccdc112 |
A |
G |
18: 46,429,455 (GRCm39) |
V81A |
probably damaging |
Het |
Cfap44 |
T |
C |
16: 44,280,517 (GRCm39) |
I1432T |
probably damaging |
Het |
Chd2 |
A |
T |
7: 73,134,294 (GRCm39) |
N684K |
probably damaging |
Het |
Creb1 |
T |
C |
1: 64,605,478 (GRCm39) |
|
probably null |
Het |
Ctsc |
C |
T |
7: 87,927,502 (GRCm39) |
T31I |
probably damaging |
Het |
Cttnbp2 |
C |
A |
6: 18,434,430 (GRCm39) |
R476L |
probably damaging |
Het |
Cwf19l1 |
T |
C |
19: 44,111,653 (GRCm39) |
D260G |
possibly damaging |
Het |
Cyp24a1 |
A |
T |
2: 170,336,005 (GRCm39) |
S211T |
probably damaging |
Het |
Ddx3y |
T |
C |
Y: 1,282,919 (GRCm39) |
N46D |
probably damaging |
Het |
Dgkz |
G |
T |
2: 91,769,090 (GRCm39) |
H653Q |
probably benign |
Het |
Dnajc16 |
A |
T |
4: 141,491,945 (GRCm39) |
I626N |
possibly damaging |
Het |
Dsc2 |
T |
C |
18: 20,171,151 (GRCm39) |
D616G |
probably benign |
Het |
Dscam |
A |
T |
16: 96,602,580 (GRCm39) |
S621T |
probably damaging |
Het |
Dst |
T |
A |
1: 34,267,774 (GRCm39) |
V3058E |
probably damaging |
Het |
Ep400 |
A |
T |
5: 110,858,959 (GRCm39) |
C1125S |
unknown |
Het |
Glyatl3 |
G |
A |
17: 41,223,619 (GRCm39) |
Q41* |
probably null |
Het |
Gm7694 |
T |
G |
1: 170,128,927 (GRCm39) |
I201L |
probably damaging |
Het |
Gnal |
C |
T |
18: 67,221,830 (GRCm39) |
R78* |
probably null |
Het |
Gtf3c1 |
T |
C |
7: 125,303,069 (GRCm39) |
D122G |
probably benign |
Het |
Htt |
G |
T |
5: 34,975,095 (GRCm39) |
D622Y |
possibly damaging |
Het |
Igkv4-92 |
A |
G |
6: 68,732,081 (GRCm39) |
C98R |
probably benign |
Het |
Incenp |
G |
A |
19: 9,855,088 (GRCm39) |
R608* |
probably null |
Het |
Kics2 |
A |
G |
10: 121,586,501 (GRCm39) |
Y272C |
probably damaging |
Het |
Kif3c |
G |
A |
12: 3,451,706 (GRCm39) |
R679H |
probably damaging |
Het |
Kng1 |
T |
A |
16: 22,898,146 (GRCm39) |
H515Q |
probably damaging |
Het |
Lamb2 |
T |
C |
9: 108,361,370 (GRCm39) |
|
probably null |
Het |
Map3k21 |
A |
T |
8: 126,637,471 (GRCm39) |
D19V |
|
Het |
Marchf2 |
G |
T |
17: 33,915,207 (GRCm39) |
P129Q |
probably damaging |
Het |
Mier2 |
G |
A |
10: 79,384,274 (GRCm39) |
R166W |
probably damaging |
Het |
Ms4a4d |
T |
A |
19: 11,533,564 (GRCm39) |
D148E |
possibly damaging |
Het |
Myl4 |
A |
G |
11: 104,468,384 (GRCm39) |
D36G |
probably damaging |
Het |
Or1x6 |
G |
A |
11: 50,938,938 (GRCm39) |
M1I |
probably null |
Het |
Or2a25 |
T |
C |
6: 42,889,170 (GRCm39) |
S238P |
probably damaging |
Het |
Or5ac24 |
A |
T |
16: 59,165,929 (GRCm39) |
I45N |
probably damaging |
Het |
Or5an11 |
A |
G |
19: 12,245,704 (GRCm39) |
T37A |
probably benign |
Het |
Pard3 |
G |
A |
8: 128,003,647 (GRCm39) |
S123N |
probably damaging |
Het |
Parp8 |
T |
C |
13: 117,013,126 (GRCm39) |
N638D |
probably benign |
Het |
Pgpep1l |
A |
T |
7: 67,887,406 (GRCm39) |
S65T |
probably damaging |
Het |
Ppp1r13b |
A |
G |
12: 111,796,708 (GRCm39) |
V1068A |
probably benign |
Het |
Pramel20 |
G |
A |
4: 143,298,425 (GRCm39) |
D123N |
probably benign |
Het |
Prkd1 |
G |
A |
12: 50,430,185 (GRCm39) |
Q641* |
probably null |
Het |
Ptgr2 |
T |
C |
12: 84,344,873 (GRCm39) |
V82A |
possibly damaging |
Het |
Rbm34 |
G |
A |
8: 127,686,332 (GRCm39) |
P225S |
possibly damaging |
Het |
Rnps1 |
A |
T |
17: 24,637,496 (GRCm39) |
K46I |
unknown |
Het |
Shank1 |
T |
C |
7: 44,002,409 (GRCm39) |
V1376A |
probably benign |
Het |
Ski |
A |
T |
4: 155,306,317 (GRCm39) |
Y221N |
probably damaging |
Het |
Skint6 |
C |
A |
4: 113,095,347 (GRCm39) |
G104V |
probably damaging |
Het |
Slit2 |
G |
A |
5: 48,459,860 (GRCm39) |
C1380Y |
possibly damaging |
Het |
Smpd3 |
C |
T |
8: 106,984,058 (GRCm39) |
G554S |
probably benign |
Het |
Sorbs2 |
T |
G |
8: 46,248,774 (GRCm39) |
V675G |
probably benign |
Het |
Spdl1 |
C |
A |
11: 34,700,535 (GRCm39) |
C605F |
possibly damaging |
Het |
Syne1 |
C |
A |
10: 5,155,406 (GRCm39) |
D5568Y |
probably benign |
Het |
Tac1 |
C |
A |
6: 7,559,141 (GRCm39) |
A111D |
possibly damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tnfrsf1a |
T |
C |
6: 125,333,878 (GRCm39) |
C44R |
probably damaging |
Het |
Traf3ip3 |
T |
C |
1: 192,864,285 (GRCm39) |
Q366R |
probably benign |
Het |
Trip10 |
A |
G |
17: 57,569,416 (GRCm39) |
D479G |
probably damaging |
Het |
Trip11 |
T |
C |
12: 101,845,131 (GRCm39) |
T1536A |
probably benign |
Het |
Tstd3 |
G |
T |
4: 21,767,082 (GRCm39) |
A13E |
possibly damaging |
Het |
Urb1 |
T |
C |
16: 90,550,678 (GRCm39) |
K2058R |
probably benign |
Het |
Usp15 |
A |
T |
10: 122,982,703 (GRCm39) |
I304N |
possibly damaging |
Het |
Usp18 |
T |
G |
6: 121,229,529 (GRCm39) |
H49Q |
probably benign |
Het |
Vmn1r56 |
T |
A |
7: 5,199,389 (GRCm39) |
D76V |
probably damaging |
Het |
Wnk1 |
A |
G |
6: 119,939,393 (GRCm39) |
S167P |
probably damaging |
Het |
Zfp229 |
G |
A |
17: 21,965,731 (GRCm39) |
A654T |
possibly damaging |
Het |
Zfp977 |
C |
T |
7: 42,230,082 (GRCm39) |
V148I |
probably benign |
Het |
Znfx1 |
A |
T |
2: 166,880,656 (GRCm39) |
I1240N |
|
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 |
|
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 |
|
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'- TTCTTGGCAGCACAACACTG -3'
(R):5'- TGTTCAAGGTTAAGTACTGAGAAGG -3'
Sequencing Primer
(F):5'- GCAGCACAACACTGATTGACTTTTC -3'
(R):5'- GGAGAAAGGAGGCCATTTAAAC -3'
|
Posted On |
2021-10-11 |