Mutagenetix > Incidental Mutation

Incidental Mutation 'R9787:Malrd1'

734380

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 #

R9787 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15531290-16260366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15625401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 345 (N345K)

Ref Sequence

ENSEMBL: ENSMUSP00000116869 (fasta)

Gene Model

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

AlphaFold

A2AJX4

Predicted Effect

unknown
Transcript: ENSMUST00000146205
AA Change: N345K

SMART Domains

Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: N345K

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: 99.8%
10x: 99.3%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,150,695 (GRCm39)	T26A	probably benign	Het
Arhgap27	A	G	11: 103,230,048 (GRCm39)	S239P	possibly damaging	Het
Bambi	T	C	18: 3,511,515 (GRCm39)	V112A	possibly damaging	Het
BC034090	T	A	1: 155,117,955 (GRCm39)	E54D	possibly damaging	Het
Cdin1	T	A	2: 115,505,236 (GRCm39)	L169Q	probably damaging	Het
Chst13	C	T	6: 90,286,074 (GRCm39)	R296H	probably benign	Het
Clip2	C	T	5: 134,533,616 (GRCm39)	R487Q	probably benign	Het
Ctbs	T	A	3: 146,160,109 (GRCm39)	V46E	probably damaging	Het
Cyp2b9	A	G	7: 25,900,259 (GRCm39)	I356V	probably benign	Het
Dot1l	A	G	10: 80,600,472 (GRCm39)	T40A	probably benign	Het
Dst	C	T	1: 34,219,524 (GRCm39)	T1988M	probably benign	Het
Fam184a	T	A	10: 53,626,864 (GRCm39)	D38V	possibly damaging	Het
Fank1	T	A	7: 133,463,887 (GRCm39)	F83I	probably damaging	Het
Fto	T	A	8: 92,211,886 (GRCm39)	W404R	probably damaging	Het
Gabra4	T	A	5: 71,791,004 (GRCm39)	R279S	possibly damaging	Het
Garem2	C	T	5: 30,319,219 (GRCm39)	P227L	probably damaging	Het
Gfra4	C	A	2: 130,884,600 (GRCm39)	M1I	probably null	Het
Gin1	T	A	1: 97,703,211 (GRCm39)	H11Q	probably damaging	Het
Gli3	G	A	13: 15,900,386 (GRCm39)	G1258R	probably damaging	Het
Gsx1	T	C	5: 147,126,677 (GRCm39)	S167P	probably damaging	Het
Gtf2b	AATCATC	AATC	3: 142,477,178 (GRCm39)		probably benign	Het
Il7	G	A	3: 7,641,171 (GRCm39)	R82C	probably damaging	Het
Lair1	A	T	7: 4,013,794 (GRCm39)	V151E	probably damaging	Het
Lpar1	T	C	4: 58,437,349 (GRCm39)	D360G	probably benign	Het
Mbnl1	T	A	3: 60,503,086 (GRCm39)	N82K	probably damaging	Het
Mtdh	C	A	15: 34,123,844 (GRCm39)	T357N	probably benign	Het
Muc6	T	A	7: 141,227,748 (GRCm39)	K1306*	probably null	Het
Nsd1	T	A	13: 55,461,518 (GRCm39)	C2685S	probably benign	Het
Optn	T	A	2: 5,036,150 (GRCm39)	Q444L	probably damaging	Het
Or6a2	A	T	7: 106,600,899 (GRCm39)	L56H	probably damaging	Het
Pan2	T	A	10: 128,144,223 (GRCm39)	D157E	probably benign	Het
Pole	G	A	5: 110,465,866 (GRCm39)		probably null	Het
Stau2	A	T	1: 16,530,595 (GRCm39)	I108N	unknown	Het
Sugp2	A	G	8: 70,695,428 (GRCm39)	K134E	probably benign	Het
Tcaf3	C	T	6: 42,574,024 (GRCm39)	V63I	probably benign	Het
Tcf7	T	A	11: 52,173,773 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Tubb2b	T	C	13: 34,312,409 (GRCm39)	D128G	probably benign	Het
Umodl1	A	T	17: 31,178,324 (GRCm39)	Q100L	probably damaging	Het
Unc79	T	A	12: 103,112,620 (GRCm39)	N2230K	probably benign	Het
Zc3hav1l	T	C	6: 38,272,101 (GRCm39)	T223A	probably benign	Het
Zfhx4	G	A	3: 5,455,506 (GRCm39)	D1167N	possibly damaging	Het
Zfp36	A	T	7: 28,077,344 (GRCm39)	L200Q	probably damaging	Het
Zswim9	T	A	7: 12,994,205 (GRCm39)	L650F	probably 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
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
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'- ACCAAGTCCTCGTATTGTGTGC -3'
(R):5'- ACAGAAAACTCGTCCTGTTAAGG -3'

Sequencing Primer
(F):5'- GGCATTTTAGTTAAAGTCAAGGGC -3'
(R):5'- CCTGTTAAGGACCAAACATAAT -3'

Posted On

2022-11-14