Mutagenetix > Incidental Mutation

Incidental Mutation 'R6796:Malrd1'

532994

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

044909-MU

Accession Numbers

Essential gene?

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

Stock #

R6796 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15531290-16260366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 15874595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 1341 (I1341K)

Ref Sequence

ENSEMBL: ENSMUSP00000116869 (fasta)

Gene Model

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

AlphaFold

A2AJX4

Predicted Effect

unknown
Transcript: ENSMUST00000146205
AA Change: I1341K

SMART Domains

Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: I1341K

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% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,620,597 (GRCm39)	V3950A	probably damaging	Het
App	A	G	16: 84,917,455 (GRCm39)	I63T	probably damaging	Het
Bpifb4	A	T	2: 153,803,467 (GRCm39)	K381N	probably damaging	Het
Cdc45	C	T	16: 18,603,607 (GRCm39)	A529T	probably damaging	Het
Cdh18	T	A	15: 23,446,159 (GRCm39)	N536K	probably damaging	Het
Dpy19l1	C	A	9: 24,414,158 (GRCm39)	R90L	possibly damaging	Het
E2f3	A	G	13: 30,102,568 (GRCm39)	V231A	possibly damaging	Het
F930015N05Rik	A	T	11: 64,326,229 (GRCm39)		probably benign	Het
Fcer2a	T	C	8: 3,739,830 (GRCm39)	H47R	possibly damaging	Het
Hcar2	A	G	5: 124,003,330 (GRCm39)	S58P	probably benign	Het
Hivep3	A	G	4: 119,953,558 (GRCm39)	T625A	possibly damaging	Het
Insrr	C	T	3: 87,720,873 (GRCm39)	R1044C	probably damaging	Het
Itgax	C	T	7: 127,734,236 (GRCm39)	A336V	probably damaging	Het
Lin37	A	T	7: 30,256,341 (GRCm39)	V140E	probably damaging	Het
Map4k5	T	C	12: 69,864,799 (GRCm39)	I561V	probably benign	Het
Mcc	A	G	18: 44,857,627 (GRCm39)	S163P	probably benign	Het
Nlrp12	T	C	7: 3,290,039 (GRCm39)	T158A	probably damaging	Het
Or5an6	A	T	19: 12,372,292 (GRCm39)	I222F	probably damaging	Het
Or5b119	A	G	19: 13,457,278 (GRCm39)	C95R	probably damaging	Het
Paqr5	C	T	9: 61,871,065 (GRCm39)	R171Q	probably damaging	Het
Pax8	A	T	2: 24,331,098 (GRCm39)	M200K	probably benign	Het
Plcd4	T	C	1: 74,601,229 (GRCm39)	S498P	probably benign	Het
Poglut1	T	C	16: 38,349,972 (GRCm39)	Y267C	probably damaging	Het
Pom121l2	T	C	13: 22,167,694 (GRCm39)	I655T	probably benign	Het
Proca1	G	T	11: 78,085,754 (GRCm39)	R19L	probably benign	Het
Prr30	A	G	14: 101,436,380 (GRCm39)	S61P	probably benign	Het
Ranbp17	T	C	11: 33,167,398 (GRCm39)	S1022G	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpgrip1	A	G	14: 52,387,469 (GRCm39)	H1037R	probably damaging	Het
Rpl34	G	T	3: 130,522,926 (GRCm39)	T6K	probably damaging	Het
Scaper	T	C	9: 55,771,711 (GRCm39)	T402A	probably benign	Het
Selenow	A	T	7: 15,653,996 (GRCm39)	V52E	probably damaging	Het
Septin14	T	A	5: 129,774,822 (GRCm39)	I118L	probably benign	Het
Sis	A	T	3: 72,872,951 (GRCm39)	N62K	probably benign	Het
Sit1	A	T	4: 43,482,761 (GRCm39)	C133S	probably benign	Het
Susd3	ACC	AC	13: 49,391,041 (GRCm39)		probably null	Het
Svep1	A	G	4: 58,064,275 (GRCm39)	V3236A	probably benign	Het
Taf12	G	A	4: 132,016,725 (GRCm39)	V168I	possibly damaging	Het
Tas2r139	A	T	6: 42,118,526 (GRCm39)	R219S	probably damaging	Het
Tmc1	A	T	19: 20,776,400 (GRCm39)	V653D	probably damaging	Het
Utp23	T	A	15: 51,741,007 (GRCm39)	L30Q	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
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'- TTGACCTTTGTACCTGGGAGC -3'
(R):5'- CAACATCATGAGGCATCAAAAGATG -3'

Sequencing Primer
(F):5'- ACCTTTGTACCTGGGAGCAAGATC -3'
(R):5'- GGCATCAAAAGATGGGACTTTAG -3'

Posted On

2018-08-29