Mutagenetix > Incidental Mutation

Incidental Mutation 'R7102:Malrd1'

550875

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

045194-MU

Accession Numbers

Essential gene?

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

Stock #

R7102 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

15526479-16255555 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 16142303 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 1985 (E1985D)

Ref Sequence

ENSEMBL: ENSMUSP00000116869 (fasta)

Gene Model

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

AlphaFold

A2AJX4

Predicted Effect

unknown
Transcript: ENSMUST00000146205
AA Change: E1985D

SMART Domains

Protein: ENSMUSP00000116869
Gene: ENSMUSG00000075520
AA Change: E1985D

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	T	A	19: 5,503,595 (GRCm38)	T53S	probably benign	Het
4932438A13Rik	T	G	3: 36,940,798 (GRCm38)	Y990D	probably damaging	Het
Abca13	A	T	11: 9,335,215 (GRCm38)	H3283L	probably damaging	Het
Abcb1a	T	G	5: 8,694,072 (GRCm38)	S233A	probably benign	Het
Actr10	T	C	12: 70,953,031 (GRCm38)		probably null	Het
Acvr2b	C	T	9: 119,432,553 (GRCm38)	A380V	probably damaging	Het
Adcy5	A	G	16: 35,299,625 (GRCm38)	E1168G	probably damaging	Het
Akap12	C	T	10: 4,353,226 (GRCm38)	T117I	probably damaging	Het
Alox5	T	A	6: 116,413,468 (GRCm38)	Y516F	probably benign	Het
Amigo2	T	C	15: 97,245,860 (GRCm38)	N227S	probably damaging	Het
Anpep	C	A	7: 79,836,313 (GRCm38)	V554L	probably benign	Het
Ap5b1	T	A	19: 5,570,187 (GRCm38)	V545E	possibly damaging	Het
Bbs9	C	T	9: 22,579,553 (GRCm38)	L326F	probably damaging	Het
Cadps	C	T	14: 12,603,738 (GRCm38)	G361R	probably damaging	Het
Ccdc57	C	A	11: 120,921,731 (GRCm38)	E66*	probably null	Het
Ccr6	G	A	17: 8,256,187 (GRCm38)	V75I	probably benign	Het
Cdk6	T	C	5: 3,520,709 (GRCm38)	F300S	probably damaging	Het
Cenpb	A	C	2: 131,178,879 (GRCm38)	V333G	probably damaging	Het
Clca4a	T	C	3: 144,961,909 (GRCm38)	I434V	probably benign	Het
Coro2b	T	A	9: 62,421,385 (GRCm38)	D447V	possibly damaging	Het
Cpeb3	T	C	19: 37,174,719 (GRCm38)	S86G	probably benign	Het
Cry2	C	A	2: 92,413,093 (GRCm38)	A468S	probably damaging	Het
Csf2rb2	T	C	15: 78,297,072 (GRCm38)	Y40C	probably damaging	Het
Ddx49	T	A	8: 70,301,076 (GRCm38)	T48S	probably damaging	Het
Dip2c	A	G	13: 9,604,536 (GRCm38)	T727A	probably benign	Het
Ebf4	A	T	2: 130,309,731 (GRCm38)	I183F	probably benign	Het
Elavl3	G	T	9: 22,018,729 (GRCm38)	P293Q	possibly damaging	Het
Esyt1	A	T	10: 128,516,236 (GRCm38)	L768Q	probably damaging	Het
Fam45a	T	A	19: 60,832,596 (GRCm38)	M272K	probably damaging	Het
Fat2	G	A	11: 55,283,434 (GRCm38)	P2151L	probably damaging	Het
Fgfbp3	G	T	19: 36,919,206 (GRCm38)	A4E	possibly damaging	Het
Flg	T	A	3: 93,293,028 (GRCm38)	V277D	unknown	Het
Fndc3b	T	C	3: 27,470,234 (GRCm38)	D459G	possibly damaging	Het
Fras1	A	G	5: 96,571,041 (GRCm38)	Q438R	probably benign	Het
Glipr1l2	A	T	10: 112,092,425 (GRCm38)		probably null	Het
Gm7347	T	A	5: 26,057,384 (GRCm38)		probably null	Het
Grm6	G	A	11: 50,862,977 (GRCm38)	V703I	possibly damaging	Het
Gtf2h1	T	A	7: 46,819,126 (GRCm38)	V496E	probably benign	Het
Ifna12	A	G	4: 88,603,151 (GRCm38)	L53P	probably damaging	Het
Invs	T	A	4: 48,407,674 (GRCm38)	S550T	probably benign	Het
Irak2	G	T	6: 113,686,849 (GRCm38)	C453F	probably damaging	Het
Itih2	G	T	2: 10,105,763 (GRCm38)	Q506K	probably benign	Het
Kidins220	T	C	12: 25,057,663 (GRCm38)	I1614T	probably benign	Het
Krtap5-3	T	A	7: 142,202,255 (GRCm38)	C276*	probably null	Het
Lama3	T	A	18: 12,552,813 (GRCm38)	M1128K	possibly damaging	Het
Lhfpl4	C	T	6: 113,194,145 (GRCm38)	A27T	possibly damaging	Het
Lyplal1	A	G	1: 186,100,327 (GRCm38)	V77A	probably damaging	Het
Mlx	A	C	11: 101,088,976 (GRCm38)	Q161P	probably benign	Het
Mroh2b	T	A	15: 4,948,003 (GRCm38)	M1279K	probably benign	Het
Myh7b	A	G	2: 155,622,199 (GRCm38)	E540G	probably damaging	Het
Neb	T	A	2: 52,304,055 (GRCm38)	D653V	probably damaging	Het
Nek10	T	A	14: 14,828,517 (GRCm38)	L113Q	probably damaging	Het
Nlrp4c	T	A	7: 6,065,709 (GRCm38)	L203*	probably null	Het
Ntpcr	T	A	8: 125,730,055 (GRCm38)	C5S	unknown	Het
Nwd1	A	G	8: 72,695,329 (GRCm38)	D1001G	probably damaging	Het
Olfr1184	T	A	2: 88,487,148 (GRCm38)	C139S	probably damaging	Het
Olfr294	C	T	7: 86,616,267 (GRCm38)	C126Y	probably benign	Het
Olfr536	T	A	7: 140,504,316 (GRCm38)	T48S	probably benign	Het
Olfr784	A	C	10: 129,388,167 (GRCm38)	D178A	probably damaging	Het
Osbpl3	T	A	6: 50,320,135 (GRCm38)	S564C	probably damaging	Het
Pax6	C	A	2: 105,692,259 (GRCm38)	P264T	probably damaging	Het
Plppr4	T	C	3: 117,323,183 (GRCm38)	R342G	probably damaging	Het
Prg4	C	T	1: 150,452,254 (GRCm38)	C220Y	probably damaging	Het
Prune2	T	A	19: 17,121,213 (GRCm38)	D1360E	probably benign	Het
Ranbp2	T	A	10: 58,463,950 (GRCm38)	S469T	probably damaging	Het
Rbfox1	A	T	16: 7,369,834 (GRCm38)	K43N	probably benign	Het
Rgs22	T	C	15: 36,122,313 (GRCm38)	D25G	probably damaging	Het
Rnf113a2	G	A	12: 84,417,771 (GRCm38)	G146S	probably damaging	Het
Sbpl	T	A	17: 23,954,634 (GRCm38)	K55*	probably null	Het
Scel	G	A	14: 103,543,832 (GRCm38)	W138*	probably null	Het
Scgb2b19	T	C	7: 33,280,286 (GRCm38)	I12V	probably null	Het
Scn9a	T	A	2: 66,549,015 (GRCm38)	M358L	probably damaging	Het
Sdk2	C	A	11: 113,842,690 (GRCm38)	E924*	probably null	Het
Sipa1l3	T	C	7: 29,348,587 (GRCm38)	Q1292R	possibly damaging	Het
Skint4	G	A	4: 112,118,101 (GRCm38)	G86D	probably damaging	Het
Slc28a3	C	T	13: 58,588,214 (GRCm38)	V57I	probably benign	Het
Slc9a4	C	T	1: 40,580,639 (GRCm38)	P42S	probably benign	Het
Slc9a4	T	C	1: 40,623,399 (GRCm38)	S609P	probably damaging	Het
Slitrk1	T	A	14: 108,912,629 (GRCm38)	T217S	probably benign	Het
Spindoc	C	T	19: 7,358,442 (GRCm38)	R327H	probably benign	Het
Stk36	T	C	1: 74,622,223 (GRCm38)	S470P	probably benign	Het
Sypl	C	T	12: 32,974,255 (GRCm38)	P196L	probably benign	Het
Tekt4	T	A	17: 25,474,744 (GRCm38)	I285N	probably damaging	Het
Tgm5	T	A	2: 121,046,498 (GRCm38)	I686F	possibly damaging	Het
Thsd4	C	A	9: 59,976,304 (GRCm38)	R933L	probably damaging	Het
Treml1	T	A	17: 48,366,672 (GRCm38)	I237N	probably damaging	Het
Txndc16	T	C	14: 45,205,382 (GRCm38)	I119V	probably benign	Het
Ubr3	C	A	2: 69,897,822 (GRCm38)	N176K	probably damaging	Het
Vit	A	G	17: 78,624,997 (GRCm38)	Y511C	probably damaging	Het
Vwa5b2	G	A	16: 20,604,234 (GRCm38)	G994D	probably benign	Het
Wdr63	A	T	3: 146,055,704 (GRCm38)	S632R	possibly damaging	Het
Wnk1	T	C	6: 119,948,307 (GRCm38)	T1648A	unknown	Het
Ythdf1	G	A	2: 180,911,522 (GRCm38)	T300I	probably damaging	Het
Zan	A	G	5: 137,454,200 (GRCm38)		probably null	Het
Zbbx	A	G	3: 75,112,094 (GRCm38)	L103P	probably benign	Het
Zfp105	A	G	9: 122,929,804 (GRCm38)	D180G	probably damaging	Het
Zfp114	T	A	7: 24,180,658 (GRCm38)	L144Q	possibly damaging	Het
Zfp128	T	C	7: 12,890,472 (GRCm38)	C256R	probably 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
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
R9403:Malrd1	UTSW	2	15,614,177 (GRCm38)	missense
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'- TGACTATCACTTCATTATGAGAAACTC -3'
(R):5'- TCTCATGGAAATGAGGAAACTGAT -3'

Sequencing Primer
(F):5'- GAGCTTTGGCATGCAACT -3'
(R):5'- ATGCTTGGGATCTGCACTCAG -3'

Posted On

2019-05-15