Incidental Mutation 'R8895:Malrd1'
| ID |
677932 |
| 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 |
068754-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.078)
|
| Stock # |
R8895 (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 15850038 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 1219
(N1219I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000146205
AA Change: N1219I
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: N1219I
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930567H17Rik |
G |
A |
X: 69,437,994 (GRCm39) |
R100W |
possibly damaging |
Het |
| Adamts10 |
G |
A |
17: 33,768,270 (GRCm39) |
R814H |
probably damaging |
Het |
| Akr1a1 |
A |
G |
4: 116,498,260 (GRCm39) |
L95P |
probably damaging |
Het |
| Amigo2 |
G |
T |
15: 97,143,389 (GRCm39) |
N344K |
probably damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,621,014 (GRCm39) |
D946G |
possibly damaging |
Het |
| Arb2a |
T |
A |
13: 78,147,773 (GRCm39) |
N280K |
probably damaging |
Het |
| Btnl6 |
T |
G |
17: 34,734,391 (GRCm39) |
I124L |
probably benign |
Het |
| Bzw2 |
A |
T |
12: 36,173,982 (GRCm39) |
C97* |
probably null |
Het |
| Celsr2 |
G |
A |
3: 108,320,880 (GRCm39) |
T644I |
possibly damaging |
Het |
| Cep85l |
A |
T |
10: 53,224,911 (GRCm39) |
L226Q |
possibly damaging |
Het |
| Ces1g |
T |
C |
8: 94,046,512 (GRCm39) |
K338E |
possibly damaging |
Het |
| Cldn10 |
G |
A |
14: 119,092,507 (GRCm39) |
D36N |
probably damaging |
Het |
| Cntnap4 |
T |
A |
8: 113,479,598 (GRCm39) |
I261N |
probably benign |
Het |
| Csnk1g1 |
T |
C |
9: 65,915,109 (GRCm39) |
|
probably null |
Het |
| Cyp2c69 |
T |
C |
19: 39,869,910 (GRCm39) |
D104G |
possibly damaging |
Het |
| Cyp3a11 |
T |
C |
5: 145,797,330 (GRCm39) |
T350A |
probably benign |
Het |
| Daw1 |
T |
A |
1: 83,187,011 (GRCm39) |
C274S |
probably damaging |
Het |
| Dmtn |
T |
C |
14: 70,850,144 (GRCm39) |
T267A |
probably benign |
Het |
| Dock5 |
A |
G |
14: 68,055,112 (GRCm39) |
Y585H |
possibly damaging |
Het |
| Dsg2 |
T |
G |
18: 20,723,126 (GRCm39) |
V384G |
probably damaging |
Het |
| Elmo1 |
C |
T |
13: 20,748,630 (GRCm39) |
L492F |
probably damaging |
Het |
| Fmo1 |
T |
C |
1: 162,657,827 (GRCm39) |
D438G |
probably benign |
Het |
| Folr2 |
C |
T |
7: 101,489,408 (GRCm39) |
V244M |
unknown |
Het |
| Galnt18 |
T |
C |
7: 111,378,709 (GRCm39) |
I16V |
possibly damaging |
Het |
| Gm10036 |
C |
A |
18: 15,966,207 (GRCm39) |
Y119* |
probably null |
Het |
| Gria4 |
A |
G |
9: 4,664,951 (GRCm39) |
S102P |
probably damaging |
Het |
| Hc |
A |
T |
2: 34,890,861 (GRCm39) |
N1318K |
probably benign |
Het |
| Ifitm1 |
T |
C |
7: 140,549,499 (GRCm39) |
L94P |
probably damaging |
Het |
| Iqca1l |
T |
C |
5: 24,755,628 (GRCm39) |
D298G |
probably benign |
Het |
| Itga9 |
G |
A |
9: 118,510,835 (GRCm39) |
V455M |
probably damaging |
Het |
| Kank4 |
C |
T |
4: 98,653,747 (GRCm39) |
V894I |
possibly damaging |
Het |
| Kcnip2 |
T |
A |
19: 45,785,100 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,352,953 (GRCm39) |
T885A |
possibly damaging |
Het |
| Lamp5 |
A |
G |
2: 135,902,874 (GRCm39) |
T198A |
probably benign |
Het |
| Ldc1 |
T |
C |
4: 130,105,223 (GRCm39) |
K316E |
probably benign |
Het |
| Lipi |
A |
T |
16: 75,352,710 (GRCm39) |
L376I |
probably benign |
Het |
| Lrrc37 |
T |
A |
11: 103,509,656 (GRCm39) |
T771S |
unknown |
Het |
| Luc7l |
T |
C |
17: 26,472,978 (GRCm39) |
I31T |
possibly damaging |
Het |
| Mcf2l |
C |
T |
8: 13,034,330 (GRCm39) |
|
probably benign |
Het |
| Mrc1 |
A |
C |
2: 14,312,760 (GRCm39) |
N894T |
probably damaging |
Het |
| Mrpl35 |
C |
T |
6: 71,793,271 (GRCm39) |
A127T |
possibly damaging |
Het |
| Myom2 |
T |
A |
8: 15,152,589 (GRCm39) |
Y645* |
probably null |
Het |
| Naip2 |
T |
C |
13: 100,325,644 (GRCm39) |
H88R |
probably benign |
Het |
| Noc3l |
T |
A |
19: 38,798,751 (GRCm39) |
K282N |
probably damaging |
Het |
| Nwd2 |
T |
C |
5: 63,963,241 (GRCm39) |
Y942H |
probably damaging |
Het |
| Or10ag2 |
T |
C |
2: 87,248,659 (GRCm39) |
V87A |
probably benign |
Het |
| Or52d1 |
T |
A |
7: 103,756,302 (GRCm39) |
I272N |
probably damaging |
Het |
| Osbpl9 |
C |
A |
4: 108,930,333 (GRCm39) |
A221S |
probably benign |
Het |
| Paip1 |
T |
C |
13: 119,566,801 (GRCm39) |
L45S |
probably benign |
Het |
| Peak1 |
T |
C |
9: 56,113,938 (GRCm39) |
T1668A |
probably benign |
Het |
| Pgap3 |
A |
G |
11: 98,281,602 (GRCm39) |
F199L |
possibly damaging |
Het |
| Ppip5k2 |
T |
C |
1: 97,639,544 (GRCm39) |
M1061V |
probably benign |
Het |
| Ppp6r3 |
A |
T |
19: 3,544,017 (GRCm39) |
W333R |
probably damaging |
Het |
| Ptk2b |
T |
A |
14: 66,412,242 (GRCm39) |
N383I |
probably benign |
Het |
| Rab21 |
G |
C |
10: 115,151,080 (GRCm39) |
R58G |
probably benign |
Het |
| Rabif |
C |
T |
1: 134,433,935 (GRCm39) |
T83I |
probably damaging |
Het |
| Rdh7 |
A |
T |
10: 127,724,430 (GRCm39) |
F18Y |
probably benign |
Het |
| Scart2 |
C |
T |
7: 139,841,532 (GRCm39) |
P279S |
possibly damaging |
Het |
| Septin5 |
A |
G |
16: 18,441,861 (GRCm39) |
M315T |
possibly damaging |
Het |
| Slc27a6 |
A |
G |
18: 58,715,306 (GRCm39) |
Y303C |
probably damaging |
Het |
| Slc7a7 |
T |
A |
14: 54,607,293 (GRCm39) |
M495L |
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,748,074 (GRCm39) |
|
probably null |
Het |
| Spred2 |
T |
A |
11: 19,951,019 (GRCm39) |
I72N |
probably benign |
Het |
| St3gal1 |
A |
T |
15: 66,980,086 (GRCm39) |
I271N |
possibly damaging |
Het |
| Stox1 |
A |
T |
10: 62,495,386 (GRCm39) |
H962Q |
probably benign |
Het |
| Supt6 |
A |
T |
11: 78,103,664 (GRCm39) |
M1347K |
probably damaging |
Het |
| Susd2 |
G |
T |
10: 75,475,452 (GRCm39) |
A484D |
possibly damaging |
Het |
| Tmem260 |
A |
G |
14: 48,737,845 (GRCm39) |
|
probably benign |
Het |
| Tpbg |
C |
A |
9: 85,726,520 (GRCm39) |
A163E |
possibly damaging |
Het |
| Tpx2 |
T |
C |
2: 152,724,255 (GRCm39) |
Y344H |
probably damaging |
Het |
| Ttf2 |
A |
T |
3: 100,870,028 (GRCm39) |
F348L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,663,650 (GRCm39) |
V11675E |
unknown |
Het |
| Txnl4b |
T |
A |
8: 110,299,467 (GRCm39) |
Y142* |
probably null |
Het |
| Vmn2r18 |
G |
A |
5: 151,485,140 (GRCm39) |
R785C |
possibly damaging |
Het |
| Zbtb18 |
T |
A |
1: 177,276,044 (GRCm39) |
V459E |
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 |
|
|
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 |
|
|
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'- GGGAGTCAAGCTAGACATTCTTG -3'
(R):5'- GCTGCACCTACTACTGAGATTTATC -3'
Sequencing Primer
(F):5'- GAGTCAAGCTAGACATTCTTGATATG -3'
(R):5'- TCAATGATGAATGCCAAGTAAAGAGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation