Mutagenetix > Incidental Mutation

Incidental Mutation 'R6499:Malrd1'

519612

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

044631-MU

Accession Numbers

Essential gene?

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

Stock #

R6499 (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 15936500 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1575 (S1575T)

Ref Sequence

ENSEMBL: ENSMUSP00000116869 (fasta)

Gene Model

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

AlphaFold

A2AJX4

Predicted Effect

probably benign
Transcript: ENSMUST00000146205
AA Change: S1575T

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: S1575T

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: 99.6%
10x: 98.2%
20x: 94.7%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,561 (GRCm39)	T1250M	probably damaging	Het
Actn1	C	T	12: 80,215,191 (GRCm39)	A857T	possibly damaging	Het
Adam2	C	T	14: 66,296,239 (GRCm39)	V207I	probably damaging	Het
Angpt2	T	C	8: 18,744,533 (GRCm39)	T404A	probably benign	Het
Ank3	T	C	10: 69,827,574 (GRCm39)		probably benign	Het
Atosa	C	A	9: 74,930,930 (GRCm39)	Q958K	probably damaging	Het
B4galt4	T	A	16: 38,578,184 (GRCm39)	D210E	probably benign	Het
Brinp3	A	T	1: 146,777,431 (GRCm39)	H626L	possibly damaging	Het
Ccna2	T	G	3: 36,625,112 (GRCm39)	D68A	probably damaging	Het
Cd163	G	A	6: 124,281,703 (GRCm39)	G2D	probably benign	Het
Chrm5	A	T	2: 112,310,825 (GRCm39)	V97D	probably benign	Het
Dctn5	G	A	7: 121,734,320 (GRCm39)	V55I	probably benign	Het
Dnm3	A	T	1: 162,141,164 (GRCm39)	I365N	probably damaging	Het
Esyt2	A	G	12: 116,284,790 (GRCm39)	D184G	probably damaging	Het
Ifi214	C	A	1: 173,352,597 (GRCm39)	K277N	probably damaging	Het
Il11ra1	C	T	4: 41,765,412 (GRCm39)	P169L	probably benign	Het
Inhbb	C	T	1: 119,345,069 (GRCm39)	E407K	probably damaging	Het
Lama2	T	A	10: 26,907,154 (GRCm39)	T2336S	probably damaging	Het
Ldhb	A	T	6: 142,439,847 (GRCm39)	V231E	possibly damaging	Het
Lrit2	T	C	14: 36,790,767 (GRCm39)	F149L	probably damaging	Het
Naip5	A	G	13: 100,358,102 (GRCm39)	C1045R	probably benign	Het
Nefl	A	G	14: 68,322,034 (GRCm39)	E208G	probably damaging	Het
Oog4	A	C	4: 143,164,548 (GRCm39)	S328A	probably damaging	Het
Or1e1	T	A	11: 73,245,011 (GRCm39)	L144Q	probably damaging	Het
Or5p79	G	T	7: 108,221,713 (GRCm39)	M231I	probably benign	Het
Or6c216	T	C	10: 129,678,453 (GRCm39)	I153V	probably benign	Het
Or7e168	A	G	9: 19,719,847 (GRCm39)	I78V	probably benign	Het
Pbrm1	A	G	14: 30,783,466 (GRCm39)	N528D	probably damaging	Het
Pls1	A	G	9: 95,636,798 (GRCm39)	I558T	probably damaging	Het
Polq	T	C	16: 36,881,189 (GRCm39)	S839P	probably benign	Het
Psmg1	A	G	16: 95,789,297 (GRCm39)	F87L	probably damaging	Het
Ptprt	A	G	2: 161,376,507 (GRCm39)	M1298T	probably benign	Het
Rbm27	T	A	18: 42,470,076 (GRCm39)	W958R	probably damaging	Het
Skint5	T	G	4: 113,396,552 (GRCm39)	D1207A	unknown	Het
Stx17	T	A	4: 48,183,478 (GRCm39)		probably null	Het
Tas2r114	A	T	6: 131,666,099 (GRCm39)	*310R	probably null	Het
Tmem130	T	A	5: 144,689,224 (GRCm39)	N139I	probably damaging	Het
Trpc1	T	C	9: 95,608,490 (GRCm39)	E267G	probably damaging	Het
Trrap	T	A	5: 144,793,812 (GRCm39)	M3398K	probably damaging	Het
Vrtn	T	G	12: 84,697,090 (GRCm39)	D613E	probably benign	Het
Vsx1	G	T	2: 150,530,441 (GRCm39)	T147K	probably benign	Het
Wdr55	T	C	18: 36,895,231 (GRCm39)	V103A	probably benign	Het
Zfp712	A	T	13: 67,200,400 (GRCm39)	D28E	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
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
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'- GCTAGAATAATCCCCTCATTGTTC -3'
(R):5'- GGACTGGAACTGTGATCTGTC -3'

Sequencing Primer
(F):5'- AGAATAATCCCCTCATTGTTCTTTTG -3'
(R):5'- GATCTGTCACTGCCCTCTATG -3'

Posted On

2018-06-06