Mutagenetix > Incidental Mutation

Incidental Mutation 'R6792:Malrd1'

532621

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

044905-MU

Accession Numbers

Essential gene?

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

Stock #

R6792 (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 16155567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 1992 (P1992L)

Ref Sequence

ENSEMBL: ENSMUSP00000116869 (fasta)

Gene Model

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

AlphaFold

A2AJX4

Predicted Effect

unknown
Transcript: ENSMUST00000146205
AA Change: P1992L

SMART Domains

Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: P1992L

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: 99.7%
10x: 98.7%
20x: 96.7%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	G	A	6: 128,523,292 (GRCm39)	Q1215*	probably null	Het
Aldh2	C	T	5: 121,718,712 (GRCm39)	G64R	probably damaging	Het
Atp11a	G	A	8: 12,911,939 (GRCm39)		probably benign	Het
Bcl11b	T	C	12: 107,955,993 (GRCm39)	D52G	probably damaging	Het
Bltp1	A	G	3: 37,065,715 (GRCm39)		probably null	Het
Capg	T	A	6: 72,532,537 (GRCm39)	I34K	possibly damaging	Het
Card11	T	A	5: 140,899,064 (GRCm39)	I37F	probably damaging	Het
Col27a1	G	T	4: 63,235,740 (GRCm39)	R724L	unknown	Het
Cryl1	T	C	14: 57,620,224 (GRCm39)	E47G	probably damaging	Het
Dgkb	A	T	12: 38,150,424 (GRCm39)	D70V	possibly damaging	Het
Dscam	T	C	16: 96,394,455 (GRCm39)	E1949G	probably damaging	Het
Dscam	A	G	16: 96,449,437 (GRCm39)	V1387A	probably damaging	Het
Exph5	G	A	9: 53,286,617 (GRCm39)	V1233M	possibly damaging	Het
Fat3	A	T	9: 16,286,940 (GRCm39)	V861E	probably damaging	Het
Fgfr4	T	G	13: 55,304,711 (GRCm39)	D184E	possibly damaging	Het
Fkbp14	G	T	6: 54,562,837 (GRCm39)	S49*	probably null	Het
Ginm1	T	C	10: 7,649,747 (GRCm39)	D182G	probably damaging	Het
Gk2	T	C	5: 97,603,588 (GRCm39)	I417V	probably benign	Het
Kmt2e	TGCCGCCGCCGCCGCCACCGCCGCCGCCGC	TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC	5: 23,704,474 (GRCm39)		probably benign	Het
Mapk6	A	T	9: 75,302,830 (GRCm39)	I221N	probably damaging	Het
Mup9	A	G	4: 60,377,354 (GRCm39)	V65A	possibly damaging	Het
Myo15b	A	G	11: 115,775,923 (GRCm39)	D805G	probably damaging	Het
Nup50l	T	C	6: 96,142,096 (GRCm39)	E316G	possibly damaging	Het
Or52a5b	A	G	7: 103,417,346 (GRCm39)	I86T	possibly damaging	Het
Or8k35	A	T	2: 86,424,283 (GRCm39)	D296E	probably benign	Het
Otof	T	A	5: 30,532,978 (GRCm39)	H1588L	probably damaging	Het
Pakap	A	G	4: 57,855,880 (GRCm39)	D403G	possibly damaging	Het
Pde4a	A	G	9: 21,103,886 (GRCm39)	K145R	probably benign	Het
Pik3ap1	A	T	19: 41,310,065 (GRCm39)	D418E	probably benign	Het
Pilrb2	C	A	5: 137,866,852 (GRCm39)	R217M	possibly damaging	Het
Plcb2	T	C	2: 118,549,922 (GRCm39)	N232S	probably damaging	Het
Ppargc1b	C	A	18: 61,440,747 (GRCm39)	G724W	probably damaging	Het
Ppp2r5d	A	G	17: 47,015,782 (GRCm39)	S2P	probably benign	Het
Prr5l	T	G	2: 101,547,769 (GRCm39)	N252T	probably benign	Het
Rbmyf5	A	G	Y: 3,298,867 (GRCm39)	Y206H	possibly damaging	Homo
Rilp	A	T	11: 75,403,601 (GRCm39)	K348*	probably null	Het
Slc17a7	A	G	7: 44,824,299 (GRCm39)	E505G	possibly damaging	Het
Slc6a21	T	A	7: 44,929,309 (GRCm39)	M1K	probably null	Het
Sorcs1	T	C	19: 50,666,606 (GRCm39)	T101A	probably benign	Het
Sorl1	A	T	9: 42,010,559 (GRCm39)	V137E	probably damaging	Het
Stam2	T	C	2: 52,597,993 (GRCm39)	I270V	probably benign	Het
Synj2	G	A	17: 6,040,565 (GRCm39)	A214T	probably benign	Het
Tars3	G	T	7: 65,312,051 (GRCm39)	C321F	probably damaging	Het
Tcea1	T	A	1: 4,962,268 (GRCm39)	D229E	probably benign	Het
Tdrd9	C	T	12: 111,993,547 (GRCm39)	R692W	probably benign	Het
Tkfc	T	C	19: 10,571,888 (GRCm39)	T383A	probably benign	Het
Traf1	T	C	2: 34,846,287 (GRCm39)	D43G	probably benign	Het
Tubgcp6	C	T	15: 89,007,080 (GRCm39)		probably benign	Het
Vit	A	T	17: 78,886,828 (GRCm39)	Y152F	probably damaging	Het
Vmn1r66	A	T	7: 10,008,412 (GRCm39)	M207K	possibly damaging	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
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'- ACCATCTAGAACACCAGGGG -3'
(R):5'- CCACGTGCTAGAAAATGTTGAAAAC -3'

Sequencing Primer
(F):5'- CCCTGGTCAGAGTGGAAGTG -3'
(R):5'- TGCAACAAACACCCAATATTTCTTG -3'

Posted On

2018-08-29