Incidental Mutation 'R7754:Malrd1'
| ID |
628464 |
| 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 |
045810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R7754 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
15526479-16255555 bp(+) (GRCm38) |
| Type of Mutation |
splice site (5 bp from exon) |
| DNA Base Change (assembly) |
G to A
at 15797799 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116869
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000146205]
[ENSMUST00000146205]
|
| AlphaFold |
A2AJX4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000146205
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000146205
|
| SMART Domains |
Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
| 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: 98.9%
|
| Validation Efficiency |
100% (66/66) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110051M20Rik |
A |
T |
2: 91,304,843 (GRCm38) |
|
probably null |
Het |
| 2410089E03Rik |
C |
A |
15: 8,243,826 (GRCm38) |
Q2534K |
possibly damaging |
Het |
| 4930553M12Rik |
A |
T |
4: 88,868,259 (GRCm38) |
W41R |
unknown |
Het |
| Aatf |
G |
A |
11: 84,511,509 (GRCm38) |
S117L |
possibly damaging |
Het |
| Abca12 |
C |
A |
1: 71,302,887 (GRCm38) |
V972L |
probably benign |
Het |
| Abcb11 |
T |
A |
2: 69,286,818 (GRCm38) |
R495S |
probably damaging |
Het |
| Acss2 |
T |
A |
2: 155,561,166 (GRCm38) |
H621Q |
probably benign |
Het |
| Akap9 |
T |
C |
5: 4,046,736 (GRCm38) |
L2537P |
probably benign |
Het |
| Apbb1 |
C |
T |
7: 105,559,302 (GRCm38) |
A597T |
probably damaging |
Het |
| Cacna1d |
A |
T |
14: 30,075,852 (GRCm38) |
I1448N |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,413,117 (GRCm38) |
E1841K |
probably damaging |
Het |
| Ccdc162 |
G |
T |
10: 41,587,375 (GRCm38) |
P1457Q |
probably damaging |
Het |
| Cep70 |
A |
G |
9: 99,281,092 (GRCm38) |
K331E |
probably damaging |
Het |
| D430041D05Rik |
A |
T |
2: 104,257,159 (GRCm38) |
Y491N |
probably benign |
Het |
| Dnah6 |
T |
C |
6: 73,025,720 (GRCm38) |
I3898V |
probably benign |
Het |
| Drd2 |
A |
G |
9: 49,404,977 (GRCm38) |
T346A |
probably benign |
Het |
| Efcab9 |
T |
C |
11: 32,522,941 (GRCm38) |
T169A |
possibly damaging |
Het |
| Fam163a |
A |
T |
1: 156,079,983 (GRCm38) |
I21N |
probably damaging |
Het |
| Fam171a2 |
C |
T |
11: 102,438,563 (GRCm38) |
D457N |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,479,280 (GRCm38) |
|
probably null |
Het |
| Gpr37 |
A |
T |
6: 25,689,050 (GRCm38) |
L16H |
probably damaging |
Het |
| Gtf3c2 |
T |
C |
5: 31,172,831 (GRCm38) |
D265G |
probably benign |
Het |
| Idh1 |
G |
T |
1: 65,159,490 (GRCm38) |
A407D |
probably benign |
Het |
| Ifna12 |
A |
G |
4: 88,603,178 (GRCm38) |
M44T |
probably damaging |
Het |
| Il22ra1 |
A |
G |
4: 135,734,250 (GRCm38) |
M109V |
probably benign |
Het |
| Jag2 |
A |
T |
12: 112,915,469 (GRCm38) |
|
probably null |
Het |
| Lca5l |
T |
C |
16: 96,159,561 (GRCm38) |
D572G |
unknown |
Het |
| Lcn11 |
G |
A |
2: 25,777,818 (GRCm38) |
V73I |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,445,397 (GRCm38) |
T1951A |
probably damaging |
Het |
| Ltbp2 |
A |
G |
12: 84,813,238 (GRCm38) |
|
probably null |
Het |
| Morc2b |
C |
A |
17: 33,137,244 (GRCm38) |
G518V |
probably benign |
Het |
| Muc5ac |
G |
C |
7: 141,809,303 (GRCm38) |
G2117A |
unknown |
Het |
| Myo5b |
A |
T |
18: 74,634,559 (GRCm38) |
T313S |
probably benign |
Het |
| Neto2 |
C |
A |
8: 85,669,700 (GRCm38) |
L140F |
probably damaging |
Het |
| Nlgn1 |
C |
T |
3: 25,434,303 (GRCm38) |
V623I |
probably damaging |
Het |
| Olfr364-ps1 |
A |
G |
2: 37,146,846 (GRCm38) |
I211M |
possibly damaging |
Het |
| Olfr371 |
T |
A |
8: 85,230,798 (GRCm38) |
M101K |
possibly damaging |
Het |
| Olfr384 |
C |
T |
11: 73,603,506 (GRCm38) |
Q309* |
probably null |
Het |
| Olfr603 |
C |
A |
7: 103,383,738 (GRCm38) |
W88L |
probably damaging |
Het |
| Olfr825 |
T |
G |
10: 130,162,829 (GRCm38) |
T166P |
probably damaging |
Het |
| Optc |
A |
G |
1: 133,906,992 (GRCm38) |
S15P |
possibly damaging |
Het |
| Otogl |
A |
G |
10: 107,869,546 (GRCm38) |
V640A |
probably damaging |
Het |
| Pcdhgb2 |
T |
C |
18: 37,689,970 (GRCm38) |
S5P |
probably benign |
Het |
| Pde3a |
A |
T |
6: 141,459,249 (GRCm38) |
E400V |
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,586,408 (GRCm38) |
I3856V |
possibly damaging |
Het |
| Pld2 |
G |
A |
11: 70,552,869 (GRCm38) |
|
probably null |
Het |
| Plxna4 |
G |
T |
6: 32,152,872 (GRCm38) |
H1839N |
probably damaging |
Het |
| Ppp6r2 |
T |
C |
15: 89,256,701 (GRCm38) |
V89A |
probably benign |
Het |
| Rapgef3 |
T |
C |
15: 97,757,746 (GRCm38) |
D420G |
probably damaging |
Het |
| Rnf17 |
T |
A |
14: 56,462,072 (GRCm38) |
|
probably null |
Het |
| Rps6ka2 |
T |
A |
17: 7,277,449 (GRCm38) |
|
probably null |
Het |
| Rptn |
A |
T |
3: 93,395,921 (GRCm38) |
D187V |
probably damaging |
Het |
| Rtn1 |
T |
C |
12: 72,308,429 (GRCm38) |
K248E |
probably damaging |
Het |
| Rtn4rl1 |
A |
T |
11: 75,265,045 (GRCm38) |
H101L |
probably benign |
Het |
| Sept3 |
A |
G |
15: 82,290,773 (GRCm38) |
N305S |
probably benign |
Het |
| Serpina3f |
G |
T |
12: 104,217,306 (GRCm38) |
K142N |
possibly damaging |
Het |
| Ssh1 |
C |
A |
5: 113,966,234 (GRCm38) |
R116L |
probably benign |
Het |
| Taf4 |
G |
A |
2: 179,932,029 (GRCm38) |
T682M |
probably damaging |
Het |
| Tlr6 |
T |
C |
5: 64,954,350 (GRCm38) |
K405E |
possibly damaging |
Het |
| Trbv13-2 |
G |
A |
6: 41,121,700 (GRCm38) |
A70T |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,825,505 (GRCm38) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,788,196 (GRCm38) |
I16248N |
probably damaging |
Het |
| Vldlr |
A |
T |
19: 27,217,615 (GRCm38) |
M1L |
probably benign |
Het |
| Wscd1 |
A |
G |
11: 71,784,365 (GRCm38) |
H366R |
probably damaging |
Het |
| Zbtb8a |
A |
G |
4: 129,357,703 (GRCm38) |
|
probably null |
Het |
| Zfp827 |
T |
C |
8: 79,190,329 (GRCm38) |
V511A |
|
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 |
|
|
R6959:Malrd1
|
UTSW |
2 |
16,218,009 (GRCm38) |
missense |
probably damaging |
0.97 |
|
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 |
|
|
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'- AAGTATAAACTTTCCCTTCTTGTTCA -3'
(R):5'- GCATATTGGCAGCCCCATTT -3'
Sequencing Primer
(F):5'- ATTAGCTCATCTTGTCTTTGTTCTG -3'
(R):5'- GGCAGCCCCATTTTTGCTTTTAAAG -3'
|
| Posted On |
2020-04-20 |
Incidental Mutation