Mutagenetix > Incidental Mutation

Incidental Mutation 'R6195:Malrd1'

502825

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

044335-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R6195 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

15526479-16255555 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 15695326 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 661 (H661Q)

Ref Sequence

ENSEMBL: ENSMUSP00000116869 (fasta)

Gene Model

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

AlphaFold

A2AJX4

Predicted Effect

probably damaging
Transcript: ENSMUST00000146205
AA Change: H661Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: H661Q

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: 99.6%
20x: 98.8%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 193,174,834		probably null	Het
Abtb1	T	C	6: 88,840,736	E50G	probably benign	Het
Agbl2	T	A	2: 90,813,313	D792E	probably benign	Het
Aoc1	C	A	6: 48,908,677	N705K	probably damaging	Het
Araf	G	T	X: 20,860,100	R601L	probably damaging	Homo
Arhgef7	C	T	8: 11,822,017	T701I	probably damaging	Het
Atg10	G	T	13: 91,208,436		probably null	Het
Atp5c1	T	C	2: 10,064,115	I116M	possibly damaging	Het
Baz2b	T	A	2: 59,907,511	Q1818L	possibly damaging	Het
Bod1	A	G	11: 31,666,740	*174Q	probably null	Het
Cacna1a	A	G	8: 84,588,753	Y1539C	probably damaging	Het
Creb3	A	G	4: 43,566,346	D260G	probably benign	Het
Cyp1b1	G	T	17: 79,714,266	L16M	probably damaging	Het
Dhx29	T	A	13: 112,964,537	S1205T	probably benign	Het
Dlec1	A	G	9: 119,137,253	K1097E	probably benign	Het
Dnah7b	G	A	1: 46,204,269	D1578N	probably damaging	Het
Dok3	T	C	13: 55,523,576	N394S	probably benign	Het
Efhb	A	G	17: 53,462,552	F243S	possibly damaging	Het
Eif2ak2	A	T	17: 78,871,233	Y137*	probably null	Het
Eif4e1b	A	G	13: 54,784,205	N34S	probably null	Het
F2rl3	A	G	8: 72,762,885	T247A	probably benign	Het
Fam196a	T	C	7: 134,918,648	D51G	probably damaging	Het
Fan1	A	T	7: 64,354,371	H782Q	probably damaging	Het
Fer1l5	T	C	1: 36,375,286		probably null	Het
Fer1l6	T	C	15: 58,637,957	S1423P	probably damaging	Het
Fetub	C	T	16: 22,932,331	R143C	probably damaging	Het
Fgfbp1	T	C	5: 43,979,362	D196G	possibly damaging	Het
Fxn	G	A	19: 24,262,043	R162C	probably damaging	Het
Fxr2	C	T	11: 69,652,273	T632M	probably benign	Het
Gab1	A	T	8: 80,879,532	Y24*	probably null	Het
Gcc2	T	C	10: 58,270,984	S681P	probably damaging	Het
Git2	T	C	5: 114,767,114	N94S	probably benign	Het
Gm17018	A	G	19: 45,577,019	D144G	probably damaging	Het
Gm5538	G	A	3: 59,752,202	V359I	probably damaging	Het
Gm5799	T	G	14: 43,544,631	L87V	probably damaging	Het
Golga7b	A	T	19: 42,263,447	D44V	probably benign	Het
Hace1	T	A	10: 45,670,443	I391N	possibly damaging	Het
Hmcn2	T	C	2: 31,384,115	S1416P	probably damaging	Het
Hoxa11	G	A	6: 52,245,701	R7C	probably damaging	Het
Igkv14-126	A	T	6: 67,896,491	T68S	possibly damaging	Het
Itpr3	T	C	17: 27,086,960	I164T	probably damaging	Het
Kif22	A	G	7: 127,028,959	S540P	probably damaging	Het
Ldlr	T	A	9: 21,731,781	C34*	probably null	Het
Lrrtm4	T	C	6: 80,021,956	L117P	probably damaging	Het
Mad2l1	G	T	6: 66,537,628	G94C	possibly damaging	Het
Mical3	T	A	6: 121,016,835		probably benign	Het
Mipep	T	A	14: 60,872,105	W644R	probably damaging	Het
Mycl	A	G	4: 122,999,920	D171G	probably damaging	Het
Myof	A	G	19: 37,913,357	F997L	possibly damaging	Het
Nagpa	C	T	16: 5,203,749	R46H	probably damaging	Het
Nf1	A	G	11: 79,565,975	Y629C	probably damaging	Het
Obscn	T	A	11: 58,997,207	E2164V	probably damaging	Het
Olfr1061	T	C	2: 86,413,207	I282V	probably damaging	Het
Olfr1152	T	C	2: 87,868,560	S190P	possibly damaging	Het
Olfr205	A	G	16: 59,329,422	V29A	possibly damaging	Het
Olfr648	A	T	7: 104,179,754	V218D	possibly damaging	Het
Pcdh20	T	C	14: 88,468,052	E604G	probably benign	Het
Pcdhb7	G	A	18: 37,342,656	V282I	probably benign	Het
Pcnx4	A	G	12: 72,556,874	D523G	possibly damaging	Het
Pigx	G	A	16: 32,084,586	T219I	probably damaging	Het
Plch1	G	T	3: 63,740,789	P399Q	probably damaging	Het
Pvrig	T	A	5: 138,342,275	F74I	possibly damaging	Het
Rsrp1	T	A	4: 134,926,802	I255K	probably damaging	Het
Scn1a	T	A	2: 66,277,618	Y1588F	possibly damaging	Het
Serpina9	T	A	12: 104,001,407	H243L	probably damaging	Het
Tapbp	T	C	17: 33,919,982	L41P	probably damaging	Het
Tbc1d16	T	A	11: 119,210,565	K40*	probably null	Het
Tbc1d2	C	T	4: 46,629,912	G252R	probably benign	Het
Tbc1d23	T	C	16: 57,231,350	E6G	possibly damaging	Het
Tdrd6	A	G	17: 43,629,752	V135A	probably damaging	Het
Tmem87a	A	T	2: 120,392,175		probably null	Het
Tnrc18	T	A	5: 142,765,173	K1217N	unknown	Het
Trim33	G	A	3: 103,337,532		probably null	Het
Ttn	T	A	2: 76,737,653	Y27632F	probably benign	Het
Tubgcp6	A	T	15: 89,122,791	D9E	probably benign	Het
Uaca	G	A	9: 60,870,044	R571Q	probably damaging	Het
Zfp655	T	A	5: 145,243,762	F143L	possibly damaging	Het

Other mutations in Malrd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00498:Malrd1	APN	2	16142186	splice site	probably benign
IGL01295:Malrd1	APN	2	16101957	critical splice donor site	probably null
IGL01296:Malrd1	APN	2	16101957	critical splice donor site	probably null
IGL01399:Malrd1	APN	2	16101957	critical splice donor site	probably null
IGL01400:Malrd1	APN	2	16101957	critical splice donor site	probably null
IGL01401:Malrd1	APN	2	16101957	critical splice donor site	probably null
IGL01402:Malrd1	APN	2	16101957	critical splice donor site	probably null
IGL01405:Malrd1	APN	2	16101957	critical splice donor site	probably null
IGL01406:Malrd1	APN	2	16101957	critical splice donor site	probably null
IGL02105:Malrd1	APN	2	16127863	missense	unknown
IGL02581:Malrd1	APN	2	16142312	nonsense	probably null
IGL03015:Malrd1	APN	2	16042271	missense	unknown
IGL03038:Malrd1	APN	2	16127967	missense	unknown
R1353:Malrd1	UTSW	2	16127968	missense	unknown
R1385:Malrd1	UTSW	2	16042228	missense	unknown
R2242:Malrd1	UTSW	2	16101944	missense	unknown
R2888:Malrd1	UTSW	2	16074757	missense	unknown
R4398:Malrd1	UTSW	2	16150783	missense	unknown
R4982:Malrd1	UTSW	2	16042129	missense	probably benign	0.29
R5148:Malrd1	UTSW	2	16142226	missense	unknown
R5195:Malrd1	UTSW	2	16150810	missense	unknown
R5828:Malrd1	UTSW	2	15526653	missense	probably benign	0.00
R5892:Malrd1	UTSW	2	15614267	missense	probably benign	0.03
R6034:Malrd1	UTSW	2	15845326	missense	possibly damaging	0.78
R6034:Malrd1	UTSW	2	15845326	missense	possibly damaging	0.78
R6318:Malrd1	UTSW	2	16042267	missense	unknown
R6438:Malrd1	UTSW	2	15614206	missense
R6457:Malrd1	UTSW	2	15526597	start gained	probably benign
R6457:Malrd1	UTSW	2	15667929	missense	probably benign	0.41
R6499:Malrd1	UTSW	2	15931689	missense	probably benign	0.03
R6575:Malrd1	UTSW	2	15842628	missense	probably benign	0.00
R6792:Malrd1	UTSW	2	16150756	missense	unknown
R6796:Malrd1	UTSW	2	15869784	missense	unknown
R6930:Malrd1	UTSW	2	15797667	missense	unknown
R6959:Malrd1	UTSW	2	16218009	missense	probably damaging	0.97
R6993:Malrd1	UTSW	2	16150791	missense	unknown
R7102:Malrd1	UTSW	2	16142303	missense	unknown
R7112:Malrd1	UTSW	2	15925176	missense	unknown
R7248:Malrd1	UTSW	2	16101911	missense	unknown
R7249:Malrd1	UTSW	2	15623340	missense	probably damaging	0.97
R7334:Malrd1	UTSW	2	16006718	missense	probably damaging	0.99
R7394:Malrd1	UTSW	2	15695199	missense	unknown
R7399:Malrd1	UTSW	2	15610090	missense
R7476:Malrd1	UTSW	2	16142304	missense	unknown
R7582:Malrd1	UTSW	2	15695270	missense	unknown
R7604:Malrd1	UTSW	2	15925192	missense	unknown
R7662:Malrd1	UTSW	2	15871454	missense	unknown
R7681:Malrd1	UTSW	2	16218102	missense	unknown
R7740:Malrd1	UTSW	2	15614215	missense	not run
R7747:Malrd1	UTSW	2	16074835	missense	unknown
R7754:Malrd1	UTSW	2	15797799	splice site	probably null
R7950:Malrd1	UTSW	2	16128068	missense	unknown
R8194:Malrd1	UTSW	2	15925120	missense	unknown
R8260:Malrd1	UTSW	2	15614206	missense
R8314:Malrd1	UTSW	2	15752832	missense	unknown
R8342:Malrd1	UTSW	2	15633224	missense	unknown
R8386:Malrd1	UTSW	2	15696844	missense	unknown
R8492:Malrd1	UTSW	2	15610123	missense
R8728:Malrd1	UTSW	2	15696942	nonsense	probably null
R8756:Malrd1	UTSW	2	15752895	critical splice donor site	probably null
R8869:Malrd1	UTSW	2	15565557	critical splice donor site	probably null
R8888:Malrd1	UTSW	2	15845227	missense	unknown
R8895:Malrd1	UTSW	2	15845227	missense	unknown
R8902:Malrd1	UTSW	2	16255334	nonsense	probably null
R8954:Malrd1	UTSW	2	15551367	missense
R8960:Malrd1	UTSW	2	15565430	nonsense	probably null
R9005:Malrd1	UTSW	2	15845329	missense	unknown
R9135:Malrd1	UTSW	2	15797705	missense	unknown
R9267:Malrd1	UTSW	2	16255266	missense	unknown
R9330:Malrd1	UTSW	2	16255278	missense	unknown
R9359:Malrd1	UTSW	2	15614177	missense
R9383:Malrd1	UTSW	2	15695201	missense	unknown
R9389:Malrd1	UTSW	2	15703156	missense	unknown
R9403:Malrd1	UTSW	2	15614177	missense
R9454:Malrd1	UTSW	2	15752849	missense	unknown
R9454:Malrd1	UTSW	2	15797726	nonsense	probably null
R9520:Malrd1	UTSW	2	16074820	missense	unknown
R9544:Malrd1	UTSW	2	15635998	missense	unknown
R9609:Malrd1	UTSW	2	15695270	missense	unknown
R9667:Malrd1	UTSW	2	15565215	critical splice acceptor site	probably null
R9721:Malrd1	UTSW	2	15696827	missense	unknown
R9787:Malrd1	UTSW	2	15620590	missense	unknown
R9800:Malrd1	UTSW	2	15842594	missense	unknown
Z1176:Malrd1	UTSW	2	16217845	missense	unknown
Z1191:Malrd1	UTSW	2	16042226	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GAGGCTATATCCACTTGAGTGC -3'
(R):5'- AAGGCAAAATGGTCTCAATTCC -3'

Sequencing Primer
(F):5'- TACATTCCTAAAGCAGGGGACTCTG -3'
(R):5'- ATGGTCTCAATTCCAGTCATATTACC -3'

Posted On

2018-02-27