Mutagenetix > Incidental Mutation

Incidental Mutation 'R5892:Malrd1'

457229

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

044093-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R5892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

15531290-16260366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15619078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 314 (N314S)

Ref Sequence

ENSEMBL: ENSMUSP00000116869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000146205]

AlphaFold

A2AJX4

Predicted Effect

probably benign
Transcript: ENSMUST00000146205
AA Change: N314S

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: N314S

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: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	G	T	5: 100,127,124 (GRCm39)		probably benign	Het
Abcb11	C	T	2: 69,091,844 (GRCm39)	A893T	probably damaging	Het
Adtrp	A	T	13: 41,981,682 (GRCm39)	N30K	probably benign	Het
Alms1	T	A	6: 85,597,885 (GRCm39)	S904T	probably damaging	Het
Cep170	T	A	1: 176,582,953 (GRCm39)		probably null	Het
Cntnap3	A	G	13: 64,946,994 (GRCm39)	V145A	probably damaging	Het
Dclre1a	T	C	19: 56,535,572 (GRCm39)	E4G	probably benign	Het
Depdc1a	G	C	3: 159,232,306 (GRCm39)	A686P	probably damaging	Het
Dnah7b	T	C	1: 46,376,753 (GRCm39)		probably null	Het
Enox1	A	G	14: 77,723,457 (GRCm39)		probably benign	Het
Fam107b	A	G	2: 3,779,601 (GRCm39)	E268G	probably damaging	Het
Fer1l6	A	G	15: 58,435,917 (GRCm39)	S437G	probably benign	Het
Flnb	C	A	14: 7,907,183 (GRCm38)	T1252K	probably damaging	Het
Fubp1	A	G	3: 151,923,951 (GRCm39)		probably benign	Het
Gm20402	G	A	3: 52,176,370 (GRCm39)	A50T	probably benign	Het
Gpr137b	T	C	13: 13,533,991 (GRCm39)	Y355C		Het
Gzmk	C	T	13: 113,310,456 (GRCm39)		probably null	Het
Ino80	A	T	2: 119,270,028 (GRCm39)		probably benign	Het
Ints8	T	C	4: 11,223,813 (GRCm39)	T677A	probably damaging	Het
Kat6a	A	G	8: 23,428,305 (GRCm39)	E1220G	probably damaging	Het
Lrfn5	A	G	12: 61,890,204 (GRCm39)	T498A	probably damaging	Het
Lrp2	T	A	2: 69,273,120 (GRCm39)	T4043S	probably benign	Het
Mfsd1	A	G	3: 67,497,162 (GRCm39)		probably null	Het
Muc1	C	T	3: 89,138,300 (GRCm39)	P381S	probably benign	Het
Myh2	A	T	11: 67,076,002 (GRCm39)	K730*	probably null	Het
Nat3	T	A	8: 68,000,590 (GRCm39)	N156K	probably benign	Het
Nelfe	T	C	17: 35,073,645 (GRCm39)		probably benign	Het
Nlrp1a	A	T	11: 70,990,471 (GRCm39)	L927Q	probably damaging	Het
P4ha2	A	G	11: 54,011,014 (GRCm39)	Y343C	probably damaging	Het
Pclo	A	T	5: 14,571,185 (GRCm39)	Q190L	probably damaging	Het
Pde8a	A	G	7: 80,945,439 (GRCm39)	N183S	probably damaging	Het
Plekha2	C	T	8: 25,542,381 (GRCm39)	V278I	probably benign	Het
Plekha6	G	C	1: 133,200,045 (GRCm39)	R208P	possibly damaging	Het
Plxnb1	T	C	9: 108,940,775 (GRCm39)	L1550P	probably damaging	Het
Ppox	C	T	1: 171,105,034 (GRCm39)	V385I	probably damaging	Het
Prdm16	T	C	4: 154,407,716 (GRCm39)	D1170G	possibly damaging	Het
Prmt5	A	T	14: 54,747,368 (GRCm39)	S470T	probably damaging	Het
Robo2	T	A	16: 73,692,668 (GRCm39)		probably benign	Het
Siglecg	G	A	7: 43,061,628 (GRCm39)		probably benign	Het
Slc30a5	T	C	13: 100,949,810 (GRCm39)	N367S	probably damaging	Het
Tex29	C	T	8: 11,904,288 (GRCm39)		probably benign	Het
Tmem117	T	A	15: 94,536,020 (GRCm39)	V18E	probably damaging	Het
Tmtc2	C	T	10: 105,249,366 (GRCm39)	M122I	probably benign	Het
Tpr	T	A	1: 150,283,151 (GRCm39)	N287K	probably benign	Het
Unc93b1	A	T	19: 3,993,632 (GRCm39)	D358V	probably damaging	Het
Vrk2	A	T	11: 26,484,372 (GRCm39)		probably benign	Het
Wdr24	A	T	17: 26,046,960 (GRCm39)	Q671L	probably benign	Het
Zfp110	C	T	7: 12,582,405 (GRCm39)	T351I	probably benign	Het
Zfp963	T	C	8: 70,196,027 (GRCm39)	D142G	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
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'- AGGAGTGAACTGACATGTGTT -3'
(R):5'- TGGTACACATGAAGACAAGCA -3'

Sequencing Primer
(F):5'- AGCTTATCAGTAATTGGTGCAATC -3'
(R):5'- GTACACATGAAGACAAGCAGACCC -3'

Posted On

2017-02-15