Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Malrd1'

711328

Institutional Source

Beutler Lab

Gene Symbol

Malrd1

Ensembl Gene

ENSMUSG00000075520

Gene Name

MAM and LDL receptor class A domain containing 1

Synonyms

Diet1, Gm13364, Gm13318

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R9403 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15526479-16255555 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 15614177 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 284 (V284A)

Ref Sequence

ENSEMBL: ENSMUSP00000116869 (fasta)

Gene Model

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

AlphaFold

A2AJX4

Predicted Effect

SMART Domains

Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: V284A

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

Meta Mutation Damage Score

0.0932

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,299 (GRCm38)	T255P	probably benign	Het
4930444G20Rik	C	T	10: 22,067,941 (GRCm38)	D47N	possibly damaging	Het
Angpt4	C	T	2: 151,938,972 (GRCm38)	T380M	probably damaging	Het
Apoa5	G	C	9: 46,270,646 (GRCm38)	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,702,198 (GRCm38)	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,121,927 (GRCm38)	L503S	possibly damaging	Het
Dock1	T	C	7: 135,168,396 (GRCm38)	V1795A	probably benign	Het
Dpys	C	G	15: 39,828,071 (GRCm38)	W285S	probably damaging	Het
Fam187b	T	C	7: 30,977,090 (GRCm38)	V8A		Het
Fbn2	T	C	18: 58,066,107 (GRCm38)	E1363G	probably damaging	Het
Glg1	C	T	8: 111,187,793 (GRCm38)	R453Q	probably benign	Het
Gm5591	T	A	7: 38,520,148 (GRCm38)	M434L	probably benign	Het
Gm5591	T	C	7: 38,522,256 (GRCm38)	T130A	probably damaging	Het
Gpld1	G	A	13: 24,979,729 (GRCm38)	V502I	probably benign	Het
Inhba	A	G	13: 16,017,381 (GRCm38)	H29R	probably benign	Het
Itga4	T	A	2: 79,325,660 (GRCm38)	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,543,077 (GRCm38)	I280L	probably benign	Het
Maml2	C	T	9: 13,621,673 (GRCm38)	Q728*	probably null	Het
Mkln1	T	C	6: 31,432,970 (GRCm38)	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204 (GRCm38)		probably null	Het
Muc16	A	G	9: 18,537,764 (GRCm38)		probably null	Het
Mylk	C	A	16: 34,875,642 (GRCm38)	S249*	probably null	Het
Naa35	G	A	13: 59,601,003 (GRCm38)	A150T	possibly damaging	Het
Naip5	T	A	13: 100,219,830 (GRCm38)	E1092D	probably benign	Het
Nup205	G	A	6: 35,199,974 (GRCm38)	R635H	probably benign	Het
Olfr263	T	C	13: 21,133,695 (GRCm38)	F307L	probably benign	Het
Olfr723	T	C	14: 49,929,449 (GRCm38)	T32A	probably benign	Het
Padi3	T	C	4: 140,810,532 (GRCm38)	I26V	probably benign	Het
Polq	T	C	16: 37,061,853 (GRCm38)	S1460P	probably benign	Het
Ptgdr	A	G	14: 44,853,258 (GRCm38)	S348P		Het
Qsox1	A	G	1: 155,782,597 (GRCm38)	S409P	probably damaging	Het
Rergl	T	A	6: 139,494,854 (GRCm38)	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,395,042 (GRCm38)	H22N	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570 (GRCm38)		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,467,573 (GRCm38)		probably null	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,467,575 (GRCm38)		probably benign	Het
Slc2a3	A	C	6: 122,736,610 (GRCm38)	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,276,641 (GRCm38)	N540K	probably benign	Het
Slco6c1	A	T	1: 97,062,523 (GRCm38)	S664R	possibly damaging	Het
Tgm4	C	A	9: 123,052,772 (GRCm38)	S344R	probably damaging	Het
Trim61	T	A	8: 65,014,576 (GRCm38)	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,832,652 (GRCm38)	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,637,997 (GRCm38)	T395I	probably damaging	Het
Txndc9	T	C	1: 37,995,778 (GRCm38)	E15G	probably benign	Het
Vcpip1	A	G	1: 9,745,824 (GRCm38)	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,915,259 (GRCm38)	F313S	possibly damaging	Het

Other mutations in Malrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Malrd1	APN	2	16,142,186 (GRCm38)	splice site	probably benign
IGL01295:Malrd1	APN	2	16,101,957 (GRCm38)	critical splice donor site	probably null
IGL01296:Malrd1	APN	2	16,101,957 (GRCm38)	critical splice donor site	probably null
IGL01399:Malrd1	APN	2	16,101,957 (GRCm38)	critical splice donor site	probably null
IGL01400:Malrd1	APN	2	16,101,957 (GRCm38)	critical splice donor site	probably null
IGL01401:Malrd1	APN	2	16,101,957 (GRCm38)	critical splice donor site	probably null
IGL01402:Malrd1	APN	2	16,101,957 (GRCm38)	critical splice donor site	probably null
IGL01405:Malrd1	APN	2	16,101,957 (GRCm38)	critical splice donor site	probably null
IGL01406:Malrd1	APN	2	16,101,957 (GRCm38)	critical splice donor site	probably null
IGL02105:Malrd1	APN	2	16,127,863 (GRCm38)	missense	unknown
IGL02581:Malrd1	APN	2	16,142,312 (GRCm38)	nonsense	probably null
IGL03015:Malrd1	APN	2	16,042,271 (GRCm38)	missense	unknown
IGL03038:Malrd1	APN	2	16,127,967 (GRCm38)	missense	unknown
R1353:Malrd1	UTSW	2	16,127,968 (GRCm38)	missense	unknown
R1385:Malrd1	UTSW	2	16,042,228 (GRCm38)	missense	unknown
R2242:Malrd1	UTSW	2	16,101,944 (GRCm38)	missense	unknown
R2888:Malrd1	UTSW	2	16,074,757 (GRCm38)	missense	unknown
R4398:Malrd1	UTSW	2	16,150,783 (GRCm38)	missense	unknown
R4982:Malrd1	UTSW	2	16,042,129 (GRCm38)	missense	probably benign	0.29
R5148:Malrd1	UTSW	2	16,142,226 (GRCm38)	missense	unknown
R5195:Malrd1	UTSW	2	16,150,810 (GRCm38)	missense	unknown
R5828:Malrd1	UTSW	2	15,526,653 (GRCm38)	missense	probably benign	0.00
R5892:Malrd1	UTSW	2	15,614,267 (GRCm38)	missense	probably benign	0.03
R6034:Malrd1	UTSW	2	15,845,326 (GRCm38)	missense	possibly damaging	0.78
R6034:Malrd1	UTSW	2	15,845,326 (GRCm38)	missense	possibly damaging	0.78
R6195:Malrd1	UTSW	2	15,695,326 (GRCm38)	missense	probably damaging	1.00
R6318:Malrd1	UTSW	2	16,042,267 (GRCm38)	missense	unknown
R6438:Malrd1	UTSW	2	15,614,206 (GRCm38)	missense
R6457:Malrd1	UTSW	2	15,667,929 (GRCm38)	missense	probably benign	0.41
R6457:Malrd1	UTSW	2	15,526,597 (GRCm38)	start gained	probably benign
R6499:Malrd1	UTSW	2	15,931,689 (GRCm38)	missense	probably benign	0.03
R6575:Malrd1	UTSW	2	15,842,628 (GRCm38)	missense	probably benign	0.00
R6792:Malrd1	UTSW	2	16,150,756 (GRCm38)	missense	unknown
R6796:Malrd1	UTSW	2	15,869,784 (GRCm38)	missense	unknown
R6930:Malrd1	UTSW	2	15,797,667 (GRCm38)	missense	unknown
R6959:Malrd1	UTSW	2	16,218,009 (GRCm38)	missense	probably damaging	0.97
R6993:Malrd1	UTSW	2	16,150,791 (GRCm38)	missense	unknown
R7102:Malrd1	UTSW	2	16,142,303 (GRCm38)	missense	unknown
R7112:Malrd1	UTSW	2	15,925,176 (GRCm38)	missense	unknown
R7248:Malrd1	UTSW	2	16,101,911 (GRCm38)	missense	unknown
R7249:Malrd1	UTSW	2	15,623,340 (GRCm38)	missense	probably damaging	0.97
R7334:Malrd1	UTSW	2	16,006,718 (GRCm38)	missense	probably damaging	0.99
R7394:Malrd1	UTSW	2	15,695,199 (GRCm38)	missense	unknown
R7399:Malrd1	UTSW	2	15,610,090 (GRCm38)	missense
R7476:Malrd1	UTSW	2	16,142,304 (GRCm38)	missense	unknown
R7582:Malrd1	UTSW	2	15,695,270 (GRCm38)	missense	unknown
R7604:Malrd1	UTSW	2	15,925,192 (GRCm38)	missense	unknown
R7662:Malrd1	UTSW	2	15,871,454 (GRCm38)	missense	unknown
R7681:Malrd1	UTSW	2	16,218,102 (GRCm38)	missense	unknown
R7740:Malrd1	UTSW	2	15,614,215 (GRCm38)	missense	not run
R7747:Malrd1	UTSW	2	16,074,835 (GRCm38)	missense	unknown
R7754:Malrd1	UTSW	2	15,797,799 (GRCm38)	splice site	probably null
R7950:Malrd1	UTSW	2	16,128,068 (GRCm38)	missense	unknown
R8194:Malrd1	UTSW	2	15,925,120 (GRCm38)	missense	unknown
R8260:Malrd1	UTSW	2	15,614,206 (GRCm38)	missense
R8314:Malrd1	UTSW	2	15,752,832 (GRCm38)	missense	unknown
R8342:Malrd1	UTSW	2	15,633,224 (GRCm38)	missense	unknown
R8386:Malrd1	UTSW	2	15,696,844 (GRCm38)	missense	unknown
R8492:Malrd1	UTSW	2	15,610,123 (GRCm38)	missense
R8728:Malrd1	UTSW	2	15,696,942 (GRCm38)	nonsense	probably null
R8756:Malrd1	UTSW	2	15,752,895 (GRCm38)	critical splice donor site	probably null
R8869:Malrd1	UTSW	2	15,565,557 (GRCm38)	critical splice donor site	probably null
R8888:Malrd1	UTSW	2	15,845,227 (GRCm38)	missense	unknown
R8895:Malrd1	UTSW	2	15,845,227 (GRCm38)	missense	unknown
R8902:Malrd1	UTSW	2	16,255,334 (GRCm38)	nonsense	probably null
R8954:Malrd1	UTSW	2	15,551,367 (GRCm38)	missense
R8960:Malrd1	UTSW	2	15,565,430 (GRCm38)	nonsense	probably null
R9005:Malrd1	UTSW	2	15,845,329 (GRCm38)	missense	unknown
R9135:Malrd1	UTSW	2	15,797,705 (GRCm38)	missense	unknown
R9267:Malrd1	UTSW	2	16,255,266 (GRCm38)	missense	unknown
R9330:Malrd1	UTSW	2	16,255,278 (GRCm38)	missense	unknown
R9359:Malrd1	UTSW	2	15,614,177 (GRCm38)	missense
R9383:Malrd1	UTSW	2	15,695,201 (GRCm38)	missense	unknown
R9389:Malrd1	UTSW	2	15,703,156 (GRCm38)	missense	unknown
R9454:Malrd1	UTSW	2	15,797,726 (GRCm38)	nonsense	probably null
R9454:Malrd1	UTSW	2	15,752,849 (GRCm38)	missense	unknown
R9520:Malrd1	UTSW	2	16,074,820 (GRCm38)	missense	unknown
R9544:Malrd1	UTSW	2	15,635,998 (GRCm38)	missense	unknown
R9609:Malrd1	UTSW	2	15,695,270 (GRCm38)	missense	unknown
R9667:Malrd1	UTSW	2	15,565,215 (GRCm38)	critical splice acceptor site	probably null
R9721:Malrd1	UTSW	2	15,696,827 (GRCm38)	missense	unknown
R9787:Malrd1	UTSW	2	15,620,590 (GRCm38)	missense	unknown
R9800:Malrd1	UTSW	2	15,842,594 (GRCm38)	missense	unknown
Z1176:Malrd1	UTSW	2	16,217,845 (GRCm38)	missense	unknown
Z1191:Malrd1	UTSW	2	16,042,226 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTAGGAGTGAACTGACATGTGT -3'
(R):5'- GTACACATGAAGACAAGCAGACC -3'

Sequencing Primer
(F):5'- GTGAACTGACATGTGTTATTAAAGC -3'
(R):5'- GCAGACCCACACTTACACATG -3'

Posted On

2022-05-16