Mutagenetix > Incidental Mutation

Incidental Mutation 'R8194:Malrd1'

635328

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

067617-MU

Accession Numbers

Essential gene?

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

Stock #

R8194 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15531290-16260366 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 15929931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1479 (D1479G)

Ref Sequence

ENSEMBL: ENSMUSP00000116869 (fasta)

Gene Model

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

AlphaFold

A2AJX4

Predicted Effect

unknown
Transcript: ENSMUST00000146205
AA Change: D1479G

SMART Domains

Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: D1479G

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: 99.4%
20x: 98.1%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid4a	T	A	12: 71,106,889 (GRCm39)	Y320*	probably null	Het
Ash1l	T	A	3: 88,960,062 (GRCm39)	C2265S	probably damaging	Het
Atg4b	T	A	1: 93,713,694 (GRCm39)	C55*	probably null	Het
Cacna1s	A	T	1: 136,005,430 (GRCm39)	N405I	probably benign	Het
Capn11	A	T	17: 45,944,325 (GRCm39)	D526E	probably damaging	Het
Ccdc188	A	G	16: 18,036,244 (GRCm39)	R71G	probably benign	Het
Ccser2	G	A	14: 36,618,220 (GRCm39)	R772W	probably damaging	Het
Cenpf	T	A	1: 189,414,600 (GRCm39)	E172D	probably benign	Het
Cep85	T	C	4: 133,861,400 (GRCm39)	M627V	probably null	Het
Chd1	G	A	17: 17,594,737 (GRCm39)		probably benign	Het
Cnst	A	G	1: 179,437,759 (GRCm39)	H441R	probably benign	Het
Cyp2d11	G	T	15: 82,274,638 (GRCm39)	T313N	probably damaging	Het
Cyp2g1	A	G	7: 26,514,159 (GRCm39)	N255S	possibly damaging	Het
Dnah5	A	G	15: 28,453,414 (GRCm39)	D4395G	probably damaging	Het
Fam83h	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	ACTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGTAGGGCTCCCCTTGCGCTCAGGGTAAGCTGGGGT	15: 75,874,624 (GRCm39)		probably benign	Het
Fcnb	C	T	2: 27,968,330 (GRCm39)	S209N	possibly damaging	Het
Gpsm1	CT	CTT	2: 26,217,364 (GRCm39)		probably null	Het
Lama4	A	G	10: 38,954,716 (GRCm39)	S1090G	probably damaging	Het
Man2a2	T	C	7: 80,010,766 (GRCm39)	K742E	probably benign	Het
Mapk8	A	T	14: 33,104,241 (GRCm39)	S392T	probably benign	Het
Mark3	T	C	12: 111,559,117 (GRCm39)	I53T	probably damaging	Het
Mcmdc2	A	G	1: 9,986,867 (GRCm39)	I219V	probably benign	Het
Mlycd	A	T	8: 120,134,332 (GRCm39)	E278V	probably benign	Het
Muc2	G	T	7: 141,290,801 (GRCm39)	C29F		Het
Mup20	T	C	4: 61,971,721 (GRCm39)	I77V	probably benign	Het
Myh3	A	G	11: 66,982,828 (GRCm39)	E849G	probably damaging	Het
Nedd4	A	G	9: 72,593,389 (GRCm39)	N154S	probably damaging	Het
Odad4	G	A	11: 100,454,502 (GRCm39)	G429E	probably benign	Het
Or1e1f	A	T	11: 73,856,240 (GRCm39)	I269F	probably benign	Het
Pcdh7	A	T	5: 57,877,678 (GRCm39)	N411I	probably damaging	Het
Plekhm1	A	G	11: 103,285,886 (GRCm39)	I183T	possibly damaging	Het
Prkar2a	G	A	9: 108,569,710 (GRCm39)	V19M	probably damaging	Het
Prss35	T	G	9: 86,637,666 (GRCm39)	N145K	possibly damaging	Het
Ranbp2	T	A	10: 58,291,747 (GRCm39)	D251E	possibly damaging	Het
Rnf169	C	A	7: 99,575,651 (GRCm39)	V315F	probably damaging	Het
Slc32a1	T	C	2: 158,455,761 (GRCm39)	Y139H	probably damaging	Het
Slc5a2	T	C	7: 127,870,328 (GRCm39)	V522A	probably benign	Het
Slc6a6	A	T	6: 91,717,952 (GRCm39)	Q297L	probably damaging	Het
Sos2	A	C	12: 69,645,598 (GRCm39)	Y914D	probably damaging	Het
Spata1	G	T	3: 146,195,614 (GRCm39)	T32N	possibly damaging	Het
Srcap	C	T	7: 127,138,369 (GRCm39)	R1180C	probably damaging	Het
St14	A	T	9: 31,042,921 (GRCm39)	M1K	probably null	Het
Tcaf1	T	C	6: 42,652,236 (GRCm39)	T749A	probably benign	Het
Tcp1	T	C	17: 13,141,621 (GRCm39)		probably null	Het
Tle6	A	G	10: 81,426,888 (GRCm39)	V576A	probably damaging	Het
Usp17lc	T	A	7: 103,067,407 (GRCm39)	M234K	probably benign	Het
Washc4	A	G	10: 83,416,163 (GRCm39)	I818V	possibly damaging	Het
Zdhhc18	A	G	4: 133,341,165 (GRCm39)	L236P	probably damaging	Het
Zfp266	T	C	9: 20,411,610 (GRCm39)	D189G	probably benign	Het
Zfp474	A	T	18: 52,772,229 (GRCm39)	D294V	probably damaging	Het
Zfp568	T	C	7: 29,722,758 (GRCm39)	F568L	probably damaging	Het
Zfp93	A	G	7: 23,975,479 (GRCm39)	K488R	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
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'- CCTGACCATTCGAGCAAATTTGAAAAG -3'
(R):5'- GGTGGCTACAAACAACAGCATC -3'

Sequencing Primer
(F):5'- TTTGAAAAGAGAAATGAACACCAGAC -3'
(R):5'- TCATCAGCAGCAGCAGCAG -3'

Posted On

2020-07-13