Mutagenetix > Incidental Mutation

Incidental Mutation 'R9330:Malrd1'

706770

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R9330 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15531290-16260366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16260089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 2103 (P2103L)

Ref Sequence

ENSEMBL: ENSMUSP00000116869 (fasta)

Gene Model

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

AlphaFold

A2AJX4

Predicted Effect

unknown
Transcript: ENSMUST00000146205
AA Change: P2103L

SMART Domains

Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: P2103L

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: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	T	A	5: 113,330,833 (GRCm39)	D1127V	probably benign	Het
Ajap1	A	G	4: 153,516,961 (GRCm39)	S127P	probably damaging	Het
Cdon	T	A	9: 35,400,275 (GRCm39)	Y996*	probably null	Het
Cnr2	A	G	4: 135,644,312 (GRCm39)	D130G	probably damaging	Het
Cyp2j12	A	G	4: 95,994,791 (GRCm39)	V344A	probably damaging	Het
Cyp4a32	T	A	4: 115,478,635 (GRCm39)	C456S	probably damaging	Het
Dipk1a	A	T	5: 108,059,583 (GRCm39)	D123E	probably benign	Het
Dsc1	T	A	18: 20,243,214 (GRCm39)	T80S	possibly damaging	Het
Esyt2	G	A	12: 116,305,765 (GRCm39)	V332I	probably benign	Het
Fcgbpl1	C	T	7: 27,856,410 (GRCm39)	H2066Y	probably benign	Het
G2e3	C	T	12: 51,403,928 (GRCm39)	Q161*	probably null	Het
Galnt18	C	A	7: 111,071,271 (GRCm39)	R566L	probably benign	Het
Gatb	C	T	3: 85,559,801 (GRCm39)	P542S	probably benign	Het
Gpt	G	A	15: 76,581,215 (GRCm39)	R53H	possibly damaging	Het
Herpud2	T	C	9: 25,036,246 (GRCm39)	E138G	probably damaging	Het
Hivep1	A	G	13: 42,317,713 (GRCm39)	Y2063C	probably damaging	Het
Hoxd12	T	A	2: 74,505,733 (GRCm39)	Y101*	probably null	Het
Hps4	G	A	5: 112,525,905 (GRCm39)	S642N	possibly damaging	Het
Lama4	T	C	10: 38,954,722 (GRCm39)	F1092L	probably damaging	Het
Lrp1b	A	G	2: 41,012,993 (GRCm39)	S1985P		Het
Mbnl1	C	A	3: 60,511,168 (GRCm39)	N41K	possibly damaging	Het
Muc16	T	C	9: 18,552,332 (GRCm39)	N4654D	probably benign	Het
Mug1	A	G	6: 121,859,723 (GRCm39)	T1241A	probably benign	Het
Ncam1	T	C	9: 49,456,097 (GRCm39)	D507G	probably benign	Het
Nfxl1	A	T	5: 72,681,451 (GRCm39)	D693E	probably benign	Het
Npr1	A	T	3: 90,365,979 (GRCm39)	I604N	possibly damaging	Het
Obscn	G	A	11: 58,971,047 (GRCm39)	H2280Y	possibly damaging	Het
Or5b105	T	A	19: 13,080,588 (GRCm39)	I27F	probably benign	Het
Or7c70	T	C	10: 78,683,153 (GRCm39)	T199A	probably benign	Het
Pcdh10	T	C	3: 45,335,618 (GRCm39)	V644A	probably damaging	Het
Pgk2	T	A	17: 40,519,078 (GRCm39)	I117F	probably benign	Het
Pinx1	T	A	14: 64,109,777 (GRCm39)	S110T	probably benign	Het
Pira1	A	T	7: 3,742,234 (GRCm39)	C98S	probably damaging	Het
Psmd1	A	G	1: 86,061,490 (GRCm39)	Y900C	probably damaging	Het
Rab3a	C	T	8: 71,209,881 (GRCm39)	R149C	probably damaging	Het
Samsn1	T	A	16: 75,673,433 (GRCm39)	N148Y	probably damaging	Het
Sin3a	C	T	9: 57,032,481 (GRCm39)	R1142C	probably damaging	Het
Snrnp27	A	G	6: 86,653,184 (GRCm39)	C145R	probably benign	Het
Sorl1	A	C	9: 41,979,229 (GRCm39)	V423G	probably damaging	Het
Sptlc3	G	T	2: 139,388,423 (GRCm39)	M138I	probably benign	Het
Tex15	T	A	8: 34,065,143 (GRCm39)	F1524L	probably benign	Het
Tln2	T	C	9: 67,229,213 (GRCm39)	N113D	possibly damaging	Het
Tmco1	C	T	1: 167,136,132 (GRCm39)		probably benign	Het
Tnfsf14	T	A	17: 57,501,020 (GRCm39)	D17V	probably damaging	Het
Trmt44	T	C	5: 35,727,264 (GRCm39)	D317G	probably damaging	Het
Trpc2	T	C	7: 101,739,764 (GRCm39)	F563L	probably benign	Het
Ubox5	T	C	2: 130,442,165 (GRCm39)	K174R	probably benign	Het
Vrk3	T	C	7: 44,424,910 (GRCm39)	S442P	probably damaging	Het
Wdr64	A	T	1: 175,554,024 (GRCm39)	T185S	possibly damaging	Het
Wfdc15a	A	T	2: 164,041,632 (GRCm39)	C64S	probably damaging	Het
Zfp688	A	G	7: 127,021,077 (GRCm39)	Y34H	probably damaging	Het
Zfp808	A	T	13: 62,319,974 (GRCm39)	H401L	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
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
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'- ACATGTTAGTGTGAGCTGCCAG -3'
(R):5'- GGATCTGTCAGTGATTCCATGG -3'

Sequencing Primer
(F):5'- TGAGCTGCCAGTGTGAGC -3'
(R):5'- CTGTCAGTGATTCCATGGAAATATTC -3'

Posted On

2022-04-18