Incidental Mutation 'R6959:Malrd1'
| ID |
541628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Malrd1
|
| Ensembl Gene |
ENSMUSG00000075520 |
| Gene Name |
MAM and LDL receptor class A domain containing 1 |
| Synonyms |
Diet1, Gm13364, Gm13318 |
| MMRRC Submission |
045069-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6959 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
15526479-16255555 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16218009 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 2040
(I2040V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000146205
AA Change: I2040V
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: I2040V
| 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: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
| Validation Efficiency |
94% (61/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
G |
A |
11: 70,616,659 (GRCm38) |
G177R |
probably damaging |
Het |
| 4932438A13Rik |
T |
G |
3: 36,967,189 (GRCm38) |
V2154G |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 43,015,953 (GRCm38) |
T292A |
probably benign |
Het |
| Atp11a |
T |
A |
8: 12,820,467 (GRCm38) |
D173E |
probably damaging |
Het |
| Btnl2 |
G |
A |
17: 34,363,359 (GRCm38) |
V300M |
possibly damaging |
Het |
| Calcrl |
A |
T |
2: 84,370,084 (GRCm38) |
N117K |
possibly damaging |
Het |
| Ccl22 |
A |
T |
8: 94,746,900 (GRCm38) |
|
probably null |
Het |
| Cd200r1 |
T |
A |
16: 44,790,176 (GRCm38) |
S216T |
probably damaging |
Het |
| Cdk5rap2 |
G |
A |
4: 70,360,669 (GRCm38) |
|
probably null |
Het |
| Cfap157 |
A |
G |
2: 32,784,248 (GRCm38) |
I47T |
probably damaging |
Het |
| Chodl |
G |
A |
16: 78,946,684 (GRCm38) |
V220I |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 100,274,472 (GRCm38) |
E348G |
probably benign |
Het |
| Cstf3 |
A |
G |
2: 104,649,462 (GRCm38) |
T225A |
probably benign |
Het |
| Duoxa1 |
T |
C |
2: 122,303,837 (GRCm38) |
S267G |
probably damaging |
Het |
| Epb41l1 |
G |
A |
2: 156,499,587 (GRCm38) |
S164N |
probably benign |
Het |
| Fam126a |
T |
C |
5: 23,991,756 (GRCm38) |
I45V |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,996,885 (GRCm38) |
D2607G |
possibly damaging |
Het |
| Galnt5 |
A |
G |
2: 57,999,219 (GRCm38) |
D277G |
probably benign |
Het |
| Galnt6 |
A |
G |
15: 100,714,125 (GRCm38) |
I212T |
probably damaging |
Het |
| Gatsl2 |
T |
C |
5: 134,135,213 (GRCm38) |
S83P |
probably damaging |
Het |
| Gm45861 |
T |
C |
8: 27,548,185 (GRCm38) |
|
probably null |
Het |
| Gm5478 |
T |
C |
15: 101,645,448 (GRCm38) |
D243G |
probably damaging |
Het |
| Gm6657 |
A |
G |
12: 78,202,296 (GRCm38) |
K139E |
probably damaging |
Het |
| Gm7682 |
T |
A |
5: 94,447,032 (GRCm38) |
N250K |
possibly damaging |
Het |
| Gse1 |
A |
G |
8: 120,570,971 (GRCm38) |
|
probably benign |
Het |
| Hspg2 |
A |
T |
4: 137,519,289 (GRCm38) |
Q1096L |
probably benign |
Het |
| Idh3b |
A |
G |
2: 130,281,527 (GRCm38) |
V181A |
probably damaging |
Het |
| Igf2bp3 |
T |
C |
6: 49,117,148 (GRCm38) |
|
probably null |
Het |
| Ikzf2 |
A |
G |
1: 69,538,770 (GRCm38) |
*382Q |
probably null |
Het |
| Impg2 |
A |
C |
16: 56,268,330 (GRCm38) |
H1073P |
probably benign |
Het |
| Incenp |
T |
C |
19: 9,876,770 (GRCm38) |
E639G |
unknown |
Het |
| Kcne4 |
A |
G |
1: 78,817,886 (GRCm38) |
M84V |
probably benign |
Het |
| Ktn1 |
T |
A |
14: 47,720,256 (GRCm38) |
F1004I |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 37,060,095 (GRCm38) |
V242L |
probably damaging |
Het |
| Mau2 |
T |
C |
8: 70,033,228 (GRCm38) |
D110G |
probably damaging |
Het |
| Mei1 |
T |
C |
15: 82,124,875 (GRCm38) |
V1237A |
probably benign |
Het |
| Mfsd11 |
T |
G |
11: 116,861,669 (GRCm38) |
|
probably null |
Het |
| Ncapd2 |
A |
G |
6: 125,168,920 (GRCm38) |
F1293L |
probably benign |
Het |
| Nf1 |
A |
G |
11: 79,549,468 (GRCm38) |
T280A |
probably damaging |
Het |
| Obscn |
G |
T |
11: 59,037,585 (GRCm38) |
A6085E |
probably damaging |
Het |
| Olfr623 |
T |
A |
7: 103,660,843 (GRCm38) |
I136F |
probably damaging |
Het |
| Pdzd2 |
C |
T |
15: 12,375,907 (GRCm38) |
A1381T |
probably benign |
Het |
| Ralgapa2 |
A |
G |
2: 146,342,701 (GRCm38) |
V1462A |
probably damaging |
Het |
| Rbx1 |
T |
A |
15: 81,470,962 (GRCm38) |
C56* |
probably null |
Het |
| Reln |
A |
G |
5: 21,976,564 (GRCm38) |
S1774P |
probably damaging |
Het |
| Ros1 |
T |
A |
10: 52,163,994 (GRCm38) |
E300D |
probably damaging |
Het |
| Sarnp |
T |
C |
10: 128,848,268 (GRCm38) |
V111A |
possibly damaging |
Het |
| Scube1 |
G |
T |
15: 83,629,435 (GRCm38) |
Q345K |
probably benign |
Het |
| Slc18b1 |
A |
G |
10: 23,826,044 (GRCm38) |
|
probably null |
Het |
| Slc37a2 |
T |
A |
9: 37,241,334 (GRCm38) |
T64S |
probably benign |
Het |
| Slit2 |
A |
G |
5: 48,238,385 (GRCm38) |
D710G |
possibly damaging |
Het |
| Srp72 |
T |
A |
5: 76,994,223 (GRCm38) |
Y375N |
possibly damaging |
Het |
| Tmco4 |
T |
A |
4: 139,010,499 (GRCm38) |
V135D |
probably damaging |
Het |
| Trim62 |
A |
G |
4: 128,909,162 (GRCm38) |
D335G |
probably damaging |
Het |
| Tsfm |
T |
C |
10: 127,022,909 (GRCm38) |
M196V |
probably benign |
Het |
| Tspan10 |
T |
A |
11: 120,444,696 (GRCm38) |
C211S |
probably damaging |
Het |
| Ttc21b |
A |
T |
2: 66,231,312 (GRCm38) |
M498K |
probably benign |
Het |
| Ttc6 |
A |
T |
12: 57,658,142 (GRCm38) |
|
probably null |
Het |
| Ttll1 |
G |
T |
15: 83,502,196 (GRCm38) |
Y69* |
probably null |
Het |
| Usp28 |
T |
A |
9: 49,001,542 (GRCm38) |
L31H |
probably damaging |
Het |
| Vmn2r86 |
A |
G |
10: 130,446,531 (GRCm38) |
S739P |
probably damaging |
Het |
| Wdr64 |
T |
A |
1: 175,705,989 (GRCm38) |
F64I |
probably damaging |
Het |
| Ywhaq |
A |
G |
12: 21,396,280 (GRCm38) |
|
probably null |
Het |
| Zfr |
T |
C |
15: 12,150,323 (GRCm38) |
S459P |
probably damaging |
Het |
|
| Other mutations in Malrd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00498:Malrd1
|
APN |
2 |
16,142,186 (GRCm38) |
splice site |
probably benign |
|
|
IGL01295:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01296:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01399:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01400:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01401:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01402:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01405:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL01406:Malrd1
|
APN |
2 |
16,101,957 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL02105:Malrd1
|
APN |
2 |
16,127,863 (GRCm38) |
missense |
unknown |
|
|
IGL02581:Malrd1
|
APN |
2 |
16,142,312 (GRCm38) |
nonsense |
probably null |
|
|
IGL03015:Malrd1
|
APN |
2 |
16,042,271 (GRCm38) |
missense |
unknown |
|
|
IGL03038:Malrd1
|
APN |
2 |
16,127,967 (GRCm38) |
missense |
unknown |
|
|
R1353:Malrd1
|
UTSW |
2 |
16,127,968 (GRCm38) |
missense |
unknown |
|
|
R1385:Malrd1
|
UTSW |
2 |
16,042,228 (GRCm38) |
missense |
unknown |
|
|
R2242:Malrd1
|
UTSW |
2 |
16,101,944 (GRCm38) |
missense |
unknown |
|
|
R2888:Malrd1
|
UTSW |
2 |
16,074,757 (GRCm38) |
missense |
unknown |
|
|
R4398:Malrd1
|
UTSW |
2 |
16,150,783 (GRCm38) |
missense |
unknown |
|
|
R4982:Malrd1
|
UTSW |
2 |
16,042,129 (GRCm38) |
missense |
probably benign |
0.29 |
|
R5148:Malrd1
|
UTSW |
2 |
16,142,226 (GRCm38) |
missense |
unknown |
|
|
R5195:Malrd1
|
UTSW |
2 |
16,150,810 (GRCm38) |
missense |
unknown |
|
|
R5828:Malrd1
|
UTSW |
2 |
15,526,653 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5892:Malrd1
|
UTSW |
2 |
15,614,267 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6034:Malrd1
|
UTSW |
2 |
15,845,326 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6034:Malrd1
|
UTSW |
2 |
15,845,326 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R6195:Malrd1
|
UTSW |
2 |
15,695,326 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6318:Malrd1
|
UTSW |
2 |
16,042,267 (GRCm38) |
missense |
unknown |
|
|
R6438:Malrd1
|
UTSW |
2 |
15,614,206 (GRCm38) |
missense |
|
|
|
R6457:Malrd1
|
UTSW |
2 |
15,667,929 (GRCm38) |
missense |
probably benign |
0.41 |
|
R6457:Malrd1
|
UTSW |
2 |
15,526,597 (GRCm38) |
start gained |
probably benign |
|
|
R6499:Malrd1
|
UTSW |
2 |
15,931,689 (GRCm38) |
missense |
probably benign |
0.03 |
|
R6575:Malrd1
|
UTSW |
2 |
15,842,628 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6792:Malrd1
|
UTSW |
2 |
16,150,756 (GRCm38) |
missense |
unknown |
|
|
R6796:Malrd1
|
UTSW |
2 |
15,869,784 (GRCm38) |
missense |
unknown |
|
|
R6930:Malrd1
|
UTSW |
2 |
15,797,667 (GRCm38) |
missense |
unknown |
|
|
R6993:Malrd1
|
UTSW |
2 |
16,150,791 (GRCm38) |
missense |
unknown |
|
|
R7102:Malrd1
|
UTSW |
2 |
16,142,303 (GRCm38) |
missense |
unknown |
|
|
R7112:Malrd1
|
UTSW |
2 |
15,925,176 (GRCm38) |
missense |
unknown |
|
|
R7248:Malrd1
|
UTSW |
2 |
16,101,911 (GRCm38) |
missense |
unknown |
|
|
R7249:Malrd1
|
UTSW |
2 |
15,623,340 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7334:Malrd1
|
UTSW |
2 |
16,006,718 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7394:Malrd1
|
UTSW |
2 |
15,695,199 (GRCm38) |
missense |
unknown |
|
|
R7399:Malrd1
|
UTSW |
2 |
15,610,090 (GRCm38) |
missense |
|
|
|
R7476:Malrd1
|
UTSW |
2 |
16,142,304 (GRCm38) |
missense |
unknown |
|
|
R7582:Malrd1
|
UTSW |
2 |
15,695,270 (GRCm38) |
missense |
unknown |
|
|
R7604:Malrd1
|
UTSW |
2 |
15,925,192 (GRCm38) |
missense |
unknown |
|
|
R7662:Malrd1
|
UTSW |
2 |
15,871,454 (GRCm38) |
missense |
unknown |
|
|
R7681:Malrd1
|
UTSW |
2 |
16,218,102 (GRCm38) |
missense |
unknown |
|
|
R7740:Malrd1
|
UTSW |
2 |
15,614,215 (GRCm38) |
missense |
not run |
|
|
R7747:Malrd1
|
UTSW |
2 |
16,074,835 (GRCm38) |
missense |
unknown |
|
|
R7754:Malrd1
|
UTSW |
2 |
15,797,799 (GRCm38) |
splice site |
probably null |
|
|
R7950:Malrd1
|
UTSW |
2 |
16,128,068 (GRCm38) |
missense |
unknown |
|
|
R8194:Malrd1
|
UTSW |
2 |
15,925,120 (GRCm38) |
missense |
unknown |
|
|
R8260:Malrd1
|
UTSW |
2 |
15,614,206 (GRCm38) |
missense |
|
|
|
R8314:Malrd1
|
UTSW |
2 |
15,752,832 (GRCm38) |
missense |
unknown |
|
|
R8342:Malrd1
|
UTSW |
2 |
15,633,224 (GRCm38) |
missense |
unknown |
|
|
R8386:Malrd1
|
UTSW |
2 |
15,696,844 (GRCm38) |
missense |
unknown |
|
|
R8492:Malrd1
|
UTSW |
2 |
15,610,123 (GRCm38) |
missense |
|
|
|
R8728:Malrd1
|
UTSW |
2 |
15,696,942 (GRCm38) |
nonsense |
probably null |
|
|
R8756:Malrd1
|
UTSW |
2 |
15,752,895 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8869:Malrd1
|
UTSW |
2 |
15,565,557 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8888:Malrd1
|
UTSW |
2 |
15,845,227 (GRCm38) |
missense |
unknown |
|
|
R8895:Malrd1
|
UTSW |
2 |
15,845,227 (GRCm38) |
missense |
unknown |
|
|
R8902:Malrd1
|
UTSW |
2 |
16,255,334 (GRCm38) |
nonsense |
probably null |
|
|
R8954:Malrd1
|
UTSW |
2 |
15,551,367 (GRCm38) |
missense |
|
|
|
R8960:Malrd1
|
UTSW |
2 |
15,565,430 (GRCm38) |
nonsense |
probably null |
|
|
R9005:Malrd1
|
UTSW |
2 |
15,845,329 (GRCm38) |
missense |
unknown |
|
|
R9135:Malrd1
|
UTSW |
2 |
15,797,705 (GRCm38) |
missense |
unknown |
|
|
R9267:Malrd1
|
UTSW |
2 |
16,255,266 (GRCm38) |
missense |
unknown |
|
|
R9330:Malrd1
|
UTSW |
2 |
16,255,278 (GRCm38) |
missense |
unknown |
|
|
R9359:Malrd1
|
UTSW |
2 |
15,614,177 (GRCm38) |
missense |
|
|
|
R9383:Malrd1
|
UTSW |
2 |
15,695,201 (GRCm38) |
missense |
unknown |
|
|
R9389:Malrd1
|
UTSW |
2 |
15,703,156 (GRCm38) |
missense |
unknown |
|
|
R9403:Malrd1
|
UTSW |
2 |
15,614,177 (GRCm38) |
missense |
|
|
|
R9454:Malrd1
|
UTSW |
2 |
15,797,726 (GRCm38) |
nonsense |
probably null |
|
|
R9454:Malrd1
|
UTSW |
2 |
15,752,849 (GRCm38) |
missense |
unknown |
|
|
R9520:Malrd1
|
UTSW |
2 |
16,074,820 (GRCm38) |
missense |
unknown |
|
|
R9544:Malrd1
|
UTSW |
2 |
15,635,998 (GRCm38) |
missense |
unknown |
|
|
R9609:Malrd1
|
UTSW |
2 |
15,695,270 (GRCm38) |
missense |
unknown |
|
|
R9667:Malrd1
|
UTSW |
2 |
15,565,215 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R9721:Malrd1
|
UTSW |
2 |
15,696,827 (GRCm38) |
missense |
unknown |
|
|
R9787:Malrd1
|
UTSW |
2 |
15,620,590 (GRCm38) |
missense |
unknown |
|
|
R9800:Malrd1
|
UTSW |
2 |
15,842,594 (GRCm38) |
missense |
unknown |
|
|
Z1176:Malrd1
|
UTSW |
2 |
16,217,845 (GRCm38) |
missense |
unknown |
|
|
Z1191:Malrd1
|
UTSW |
2 |
16,042,226 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGGTGTGTACAAGGATGG -3'
(R):5'- GACCATCTCTGGATACCATCATG -3'
Sequencing Primer
(F):5'- GGACAGGAAATCGATGCCACATC -3'
(R):5'- CTTCTTCCAAAAGGAAGTGTGAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation