Incidental Mutation 'R6993:Malrd1'
| ID |
543947 |
| 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 |
045099-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.068)
|
| Stock # |
R6993 (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 16155602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 2004
(I2004L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000146205
AA Change: I2004L
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: I2004L
| 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 |
99% (66/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700011L22Rik |
T |
C |
8: 79,975,053 (GRCm39) |
E10G |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,115,866 (GRCm39) |
I3429V |
possibly damaging |
Het |
| Braf |
T |
A |
6: 39,620,097 (GRCm39) |
I441F |
probably damaging |
Het |
| C5ar1 |
A |
T |
7: 15,982,837 (GRCm39) |
V61E |
probably damaging |
Het |
| Camk2a |
C |
A |
18: 61,076,247 (GRCm39) |
|
probably benign |
Het |
| Cd163 |
A |
G |
6: 124,294,673 (GRCm39) |
Y579C |
probably damaging |
Het |
| Celf1 |
T |
C |
2: 90,840,821 (GRCm39) |
Y363H |
probably damaging |
Het |
| Cntn3 |
T |
C |
6: 102,255,365 (GRCm39) |
T178A |
probably damaging |
Het |
| Cryab |
C |
T |
9: 50,664,748 (GRCm39) |
P58S |
probably benign |
Het |
| Ctsf |
G |
T |
19: 4,908,511 (GRCm39) |
R290L |
probably benign |
Het |
| Ctsw |
T |
A |
19: 5,515,865 (GRCm39) |
I258F |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,234,299 (GRCm39) |
|
probably null |
Het |
| Drg1 |
TCATCTTCCA |
TCA |
11: 3,200,294 (GRCm39) |
|
probably null |
Het |
| Etfb |
A |
G |
7: 43,105,978 (GRCm39) |
T172A |
possibly damaging |
Het |
| Etfdh |
A |
G |
3: 79,519,338 (GRCm39) |
Y272H |
probably benign |
Het |
| Ewsr1 |
C |
T |
11: 5,021,573 (GRCm39) |
R454Q |
probably benign |
Het |
| F2rl2 |
T |
A |
13: 95,837,642 (GRCm39) |
I229N |
probably damaging |
Het |
| Fam162a |
A |
T |
16: 35,870,215 (GRCm39) |
I88N |
probably damaging |
Het |
| Fastkd5 |
A |
G |
2: 130,458,459 (GRCm39) |
S44P |
probably benign |
Het |
| Fat3 |
T |
G |
9: 15,830,517 (GRCm39) |
S4326R |
probably damaging |
Het |
| Fbf1 |
T |
C |
11: 116,043,610 (GRCm39) |
K400E |
probably benign |
Het |
| Fndc7 |
A |
G |
3: 108,783,907 (GRCm39) |
V234A |
probably benign |
Het |
| Gfi1 |
T |
A |
5: 107,865,634 (GRCm39) |
H481L |
probably damaging |
Het |
| Gm5591 |
T |
A |
7: 38,218,647 (GRCm39) |
H742L |
probably benign |
Het |
| Golm1 |
ACTTCTTCT |
ACTTCT |
13: 59,797,390 (GRCm39) |
|
probably benign |
Het |
| H2-DMb1 |
A |
C |
17: 34,376,324 (GRCm39) |
T148P |
possibly damaging |
Het |
| H2-T3 |
A |
G |
17: 36,497,962 (GRCm39) |
L317P |
probably damaging |
Het |
| Hes3 |
T |
C |
4: 152,371,380 (GRCm39) |
T190A |
probably benign |
Het |
| Hivep1 |
C |
T |
13: 42,312,190 (GRCm39) |
L1477F |
possibly damaging |
Het |
| Insr |
C |
T |
8: 3,308,752 (GRCm39) |
G95S |
probably damaging |
Het |
| Irf9 |
A |
G |
14: 55,846,414 (GRCm39) |
I394V |
probably benign |
Het |
| Kat2b |
T |
C |
17: 53,945,550 (GRCm39) |
L323P |
probably damaging |
Het |
| Kdr |
T |
C |
5: 76,133,071 (GRCm39) |
D69G |
probably benign |
Het |
| Krt1c |
C |
T |
15: 101,724,395 (GRCm39) |
E290K |
probably damaging |
Het |
| Krtap4-6 |
G |
T |
11: 99,556,545 (GRCm39) |
R61S |
unknown |
Het |
| Ldc1 |
A |
G |
4: 130,112,106 (GRCm39) |
L192P |
probably damaging |
Het |
| Lrrc27 |
A |
T |
7: 138,822,540 (GRCm39) |
K477M |
probably damaging |
Het |
| Lvrn |
T |
C |
18: 47,015,365 (GRCm39) |
V579A |
probably benign |
Het |
| Mast4 |
A |
T |
13: 102,872,482 (GRCm39) |
N2103K |
probably benign |
Het |
| Mast4 |
C |
T |
13: 102,941,155 (GRCm39) |
V301I |
probably damaging |
Het |
| Myo18a |
T |
A |
11: 77,749,900 (GRCm39) |
|
probably benign |
Het |
| Or10d5 |
T |
A |
9: 39,861,933 (GRCm39) |
M45L |
probably benign |
Het |
| Or52ab2 |
G |
T |
7: 102,969,998 (GRCm39) |
|
probably benign |
Het |
| Pcdhga10 |
A |
G |
18: 37,882,309 (GRCm39) |
Y690C |
probably damaging |
Het |
| Pdcd2 |
A |
G |
17: 15,747,343 (GRCm39) |
Y65H |
probably damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,076,698 (GRCm39) |
E309G |
probably benign |
Het |
| Psmb8 |
A |
G |
17: 34,418,617 (GRCm39) |
D123G |
probably damaging |
Het |
| Ptcd3 |
A |
T |
6: 71,862,299 (GRCm39) |
W513R |
probably damaging |
Het |
| Ptx4 |
G |
A |
17: 25,343,898 (GRCm39) |
V383I |
possibly damaging |
Het |
| Ric1 |
T |
C |
19: 29,564,013 (GRCm39) |
L589S |
probably damaging |
Het |
| Rmnd5b |
A |
G |
11: 51,515,427 (GRCm39) |
|
probably benign |
Het |
| Sec16a |
A |
T |
2: 26,313,586 (GRCm39) |
S1925T |
probably damaging |
Het |
| Slc16a11 |
T |
A |
11: 70,106,842 (GRCm39) |
M360K |
possibly damaging |
Het |
| Slc19a2 |
T |
A |
1: 164,088,391 (GRCm39) |
F79I |
probably benign |
Het |
| Slc2a6 |
G |
T |
2: 26,917,255 (GRCm39) |
S45R |
probably damaging |
Het |
| Slco1a7 |
G |
A |
6: 141,711,468 (GRCm39) |
T81I |
possibly damaging |
Het |
| Sppl3 |
T |
A |
5: 115,220,349 (GRCm39) |
M87K |
probably damaging |
Het |
| Tbcel |
A |
T |
9: 42,327,413 (GRCm39) |
L330* |
probably null |
Het |
| Tbx5 |
A |
T |
5: 120,009,454 (GRCm39) |
Y321F |
possibly damaging |
Het |
| Tenm3 |
C |
T |
8: 48,689,474 (GRCm39) |
D2038N |
probably damaging |
Het |
| Tesk1 |
A |
G |
4: 43,447,006 (GRCm39) |
T465A |
probably benign |
Het |
| Unc45a |
A |
T |
7: 79,975,403 (GRCm39) |
Y934N |
probably damaging |
Het |
| Unc80 |
A |
T |
1: 66,588,952 (GRCm39) |
Q1039L |
possibly damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,822,195 (GRCm39) |
L291P |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 48,300,500 (GRCm39) |
F988I |
unknown |
Het |
| Zfp947 |
G |
A |
17: 22,364,961 (GRCm39) |
P238S |
probably benign |
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 |
|
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'- ACCATCTAGAACACCAGGGG -3'
(R):5'- CACGTGCTAGAAAATGTTGAAAACG -3'
Sequencing Primer
(F):5'- CCCTGGTCAGAGTGGAAGTG -3'
(R):5'- TGCAACAAACACCCAATATTTCTTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation