Incidental Mutation 'R4982:Malrd1'
| ID |
384886 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R4982 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
15531290-16260366 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16046940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1689
(T1689A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146205
AA Change: T1689A
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: T1689A
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,242,348 (GRCm39) |
I1404L |
possibly damaging |
Het |
| Adra1b |
A |
G |
11: 43,726,057 (GRCm39) |
S287P |
probably damaging |
Het |
| Atxn2 |
G |
T |
5: 121,952,406 (GRCm39) |
A1280S |
possibly damaging |
Het |
| Bbip1 |
T |
C |
19: 53,920,639 (GRCm39) |
|
probably null |
Het |
| Bbs2 |
A |
G |
8: 94,808,982 (GRCm39) |
|
probably null |
Het |
| Bcl11b |
A |
T |
12: 107,932,031 (GRCm39) |
C180* |
probably null |
Het |
| Bltp3a |
T |
C |
17: 28,105,580 (GRCm39) |
F702S |
probably benign |
Het |
| Bod1l |
A |
G |
5: 41,977,816 (GRCm39) |
V1166A |
probably benign |
Het |
| Bora |
C |
T |
14: 99,284,788 (GRCm39) |
P13S |
probably damaging |
Het |
| C2cd4c |
T |
C |
10: 79,449,075 (GRCm39) |
E24G |
probably benign |
Het |
| Ccne1 |
A |
T |
7: 37,799,996 (GRCm39) |
I196N |
probably damaging |
Het |
| Chsy3 |
C |
T |
18: 59,542,647 (GRCm39) |
S595L |
probably benign |
Het |
| Chsy3 |
T |
A |
18: 59,542,839 (GRCm39) |
I659N |
possibly damaging |
Het |
| Cntrob |
T |
A |
11: 69,202,188 (GRCm39) |
|
probably null |
Het |
| Col5a2 |
G |
A |
1: 45,428,618 (GRCm39) |
P983S |
possibly damaging |
Het |
| Crat |
T |
A |
2: 30,297,148 (GRCm39) |
|
probably null |
Het |
| Ctnnbl1 |
C |
T |
2: 157,678,473 (GRCm39) |
H359Y |
probably benign |
Het |
| D430041D05Rik |
A |
G |
2: 104,085,732 (GRCm39) |
V83A |
possibly damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,593,902 (GRCm39) |
S488P |
possibly damaging |
Het |
| Dmrta1 |
T |
C |
4: 89,576,801 (GRCm39) |
C86R |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Homo |
| Fam171a1 |
G |
A |
2: 3,179,505 (GRCm39) |
|
probably null |
Het |
| Fam222b |
T |
C |
11: 78,045,569 (GRCm39) |
C249R |
probably damaging |
Het |
| Fbxw18 |
T |
A |
9: 109,531,719 (GRCm39) |
|
probably benign |
Het |
| Fes |
T |
C |
7: 80,036,952 (GRCm39) |
Y44C |
probably damaging |
Het |
| Gimap6 |
A |
G |
6: 48,684,933 (GRCm39) |
V51A |
probably benign |
Het |
| Gpr75 |
C |
T |
11: 30,841,463 (GRCm39) |
L123F |
possibly damaging |
Het |
| Gpr75 |
C |
A |
11: 30,841,462 (GRCm39) |
H122Q |
probably damaging |
Het |
| Greb1 |
A |
G |
12: 16,774,762 (GRCm39) |
S212P |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,665,512 (GRCm39) |
H1041R |
probably benign |
Het |
| Ifna5 |
A |
G |
4: 88,753,861 (GRCm39) |
N34D |
probably damaging |
Het |
| Ift140 |
A |
T |
17: 25,255,968 (GRCm39) |
H221L |
probably damaging |
Het |
| Igsf3 |
T |
C |
3: 101,342,983 (GRCm39) |
V540A |
probably benign |
Het |
| Il10ra |
A |
G |
9: 45,180,357 (GRCm39) |
L5S |
probably damaging |
Het |
| Klra2 |
A |
T |
6: 131,197,152 (GRCm39) |
D282E |
probably benign |
Het |
| Lyst |
T |
A |
13: 13,900,539 (GRCm39) |
H3138Q |
probably damaging |
Het |
| Mon2 |
A |
T |
10: 122,831,694 (GRCm39) |
L1671M |
probably damaging |
Het |
| Mpped1 |
T |
C |
15: 83,720,528 (GRCm39) |
F71S |
probably damaging |
Het |
| Mtpap |
C |
A |
18: 4,396,332 (GRCm39) |
H541Q |
probably benign |
Het |
| Muc5ac |
T |
A |
7: 141,363,193 (GRCm39) |
|
probably benign |
Het |
| Mybbp1a |
T |
C |
11: 72,336,040 (GRCm39) |
I451T |
probably damaging |
Het |
| Myh7 |
T |
A |
14: 55,210,224 (GRCm39) |
E1827V |
probably damaging |
Het |
| Or1j14 |
A |
T |
2: 36,417,409 (GRCm39) |
|
probably null |
Het |
| Or2h15 |
A |
T |
17: 38,441,468 (GRCm39) |
I205N |
probably damaging |
Het |
| Or5p75-ps1 |
T |
A |
7: 108,107,855 (GRCm39) |
Y197* |
probably null |
Het |
| Or8b8 |
C |
A |
9: 37,808,811 (GRCm39) |
T37N |
probably damaging |
Het |
| Os9 |
C |
T |
10: 126,956,920 (GRCm39) |
R23H |
possibly damaging |
Het |
| Otud6b |
A |
G |
4: 14,815,607 (GRCm39) |
L261P |
probably damaging |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,476 (GRCm39) |
N107D |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,729,308 (GRCm39) |
|
probably benign |
Het |
| Peg10 |
T |
TCCG |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Phtf1 |
T |
A |
3: 103,906,024 (GRCm39) |
S524T |
probably damaging |
Het |
| Pkdrej |
A |
C |
15: 85,703,197 (GRCm39) |
L913R |
probably damaging |
Het |
| Pld1 |
C |
A |
3: 28,085,447 (GRCm39) |
A201D |
probably damaging |
Het |
| Rorb |
T |
A |
19: 18,955,052 (GRCm39) |
Q103L |
probably benign |
Het |
| Sec24d |
C |
T |
3: 123,093,255 (GRCm39) |
T284M |
probably benign |
Het |
| Serpinb3b |
T |
C |
1: 107,085,484 (GRCm39) |
I86V |
probably benign |
Het |
| Serpinb6a |
A |
T |
13: 34,102,857 (GRCm39) |
M201K |
probably damaging |
Het |
| Snx8 |
A |
G |
5: 140,337,989 (GRCm39) |
S219P |
probably benign |
Het |
| Sp8 |
C |
T |
12: 118,812,160 (GRCm39) |
T5I |
probably damaging |
Het |
| Tanc1 |
A |
G |
2: 59,630,287 (GRCm39) |
N749D |
probably damaging |
Het |
| Tarm1 |
G |
C |
7: 3,537,612 (GRCm39) |
P284A |
probably damaging |
Het |
| Tbx15 |
A |
T |
3: 99,161,390 (GRCm39) |
E65V |
probably benign |
Het |
| Ticam1 |
T |
A |
17: 56,579,020 (GRCm39) |
H25L |
probably benign |
Het |
| Tmprss11g |
T |
A |
5: 86,640,674 (GRCm39) |
L170F |
probably damaging |
Het |
| Tnfsf9 |
A |
G |
17: 57,414,504 (GRCm39) |
*310W |
probably null |
Het |
| Tsks |
C |
T |
7: 44,593,418 (GRCm39) |
T128I |
possibly damaging |
Het |
| Vmn1r175 |
A |
T |
7: 23,508,494 (GRCm39) |
N44K |
possibly damaging |
Het |
| Vmn1r45 |
A |
G |
6: 89,910,847 (GRCm39) |
I41T |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 45,004,532 (GRCm39) |
N1102S |
probably benign |
Het |
| Zswim4 |
C |
T |
8: 84,953,296 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
|
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'- GTGGTTGTACTCTGACCTCC -3'
(R):5'- TTCAGCTGATAGATTTACCTGGTG -3'
Sequencing Primer
(F):5'- TGACCTCCACACACATGCTATGG -3'
(R):5'- GTGTGGTCCGAATCTCTGCTC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation