Mutagenetix > Incidental Mutation

Incidental Mutation 'R4609:Stard3nl'

344540

Institutional Source

Beutler Lab

Gene Symbol

Stard3nl

Ensembl Gene

ENSMUSG00000003062

Gene Name

STARD3 N-terminal like

Synonyms

0610035N01Rik, 6530409L22Rik

MMRRC Submission

041820-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R4609 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19541846-19579965 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 19554434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 180 (A180E)

Ref Sequence

ENSEMBL: ENSMUSP00000152371 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039694] [ENSMUST00000197565] [ENSMUST00000200323] [ENSMUST00000221380] [ENSMUST00000222869]

AlphaFold

Q9DCI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039694
AA Change: A180E

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000037991
Gene: ENSMUSG00000003062
AA Change: A180E

Domain	Start	End	E-Value	Type
Pfam:MENTAL	49	214	2.6e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196268

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196712

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197565
AA Change: A180E

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199278

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200323
AA Change: A180E

PolyPhen 2 Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142680
Gene: ENSMUSG00000003062
AA Change: A180E

Domain	Start	End	E-Value	Type
Pfam:MENTAL	49	216	2e-73	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000221380
AA Change: A180E

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000222869

Meta Mutation Damage Score

0.2639

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a late-endosomal protein that contains a conserved MENTAL (MLN64 N-terminal) domain. The encoded protein binds cholesterol molecules and may play a role in endosomal cholesterol transport through interactions with metastatic lymph node protein 64 (MLN64). [provided by RefSeq, Sep 2011]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
7530416G11Rik	T	C	15: 85,378,370 (GRCm39)	D91G	unknown	Het
Adam10	T	C	9: 70,647,425 (GRCm39)	Y42H	probably damaging	Het
Baiap3	A	T	17: 25,469,235 (GRCm39)	C183S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Bmp1	C	T	14: 70,715,406 (GRCm39)	V910M	probably benign	Het
Brdt	G	A	5: 107,507,802 (GRCm39)	A677T	probably benign	Het
Cadps2	A	T	6: 23,587,578 (GRCm39)	M304K	probably damaging	Het
Car9	A	T	4: 43,507,267 (GRCm39)	D71V	possibly damaging	Het
Chml	A	T	1: 175,514,723 (GRCm39)	Y399*	probably null	Het
Cilk1	T	A	9: 78,075,071 (GRCm39)		probably benign	Het
Clasp1	A	G	1: 118,430,765 (GRCm39)		probably benign	Het
Cntnap5b	G	A	1: 99,700,572 (GRCm39)		probably null	Het
Cpvl	A	T	6: 53,951,605 (GRCm39)		probably null	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Cxcl16	T	C	11: 70,346,255 (GRCm39)	Y226C	probably damaging	Het
Dio3	G	T	12: 110,246,444 (GRCm39)	R260L	probably damaging	Het
Dmxl2	A	G	9: 54,353,796 (GRCm39)	L724P	probably damaging	Het
Dnah7a	A	C	1: 53,495,816 (GRCm39)	F3214V	possibly damaging	Het
Dpy19l4	A	T	4: 11,295,999 (GRCm39)	Y223*	probably null	Het
Dpysl4	T	C	7: 138,678,537 (GRCm39)	V499A	probably damaging	Het
Ets2	A	T	16: 95,512,818 (GRCm39)	K101N	probably benign	Het
Fbn2	A	T	18: 58,323,341 (GRCm39)	Y200*	probably null	Het
Fem1c	A	T	18: 46,639,015 (GRCm39)	I329N	probably damaging	Het
Fhip1b	A	G	7: 105,037,431 (GRCm39)	I384T	probably damaging	Het
Gm8919	T	C	3: 11,724,530 (GRCm39)		noncoding transcript	Het
H2-Q5	A	T	17: 35,616,056 (GRCm39)	H206L	probably benign	Het
Hexa	T	C	9: 59,464,602 (GRCm39)	F164S	probably benign	Het
Hk1	G	T	10: 62,194,194 (GRCm39)		probably benign	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kcnq5	A	T	1: 21,475,292 (GRCm39)		probably null	Het
Krtap10-4	A	T	10: 77,662,630 (GRCm39)		probably benign	Het
Maml3	G	T	3: 51,763,013 (GRCm39)	H650Q	probably damaging	Het
Mief1	C	A	15: 80,132,454 (GRCm39)	P112Q	probably benign	Het
Morc3	A	G	16: 93,661,856 (GRCm39)	E472G	probably benign	Het
Nap1l1	T	A	10: 111,328,741 (GRCm39)	Y223*	probably null	Het
Nfix	A	T	8: 85,453,119 (GRCm39)	W312R	probably damaging	Het
Nfkbie	A	T	17: 45,869,510 (GRCm39)	N155I	probably damaging	Het
Nlgn2	A	T	11: 69,724,912 (GRCm39)	M118K	probably damaging	Het
Nlrp5	A	T	7: 23,117,173 (GRCm39)	Y299F	probably benign	Het
Nnt	T	C	13: 119,494,072 (GRCm39)	I556V	possibly damaging	Het
Oasl2	A	T	5: 115,037,857 (GRCm39)	I85F	possibly damaging	Het
Ogg1	A	C	6: 113,305,393 (GRCm39)	T69P	probably damaging	Het
Olfml2a	G	T	2: 38,847,733 (GRCm39)	V431L	probably damaging	Het
Or4d5	T	C	9: 40,012,102 (GRCm39)	H228R	possibly damaging	Het
Or5p79	A	T	7: 108,221,711 (GRCm39)	M231L	probably benign	Het
Palb2	G	T	7: 121,723,946 (GRCm39)	A601E	probably benign	Het
Pcdhb20	G	A	18: 37,638,849 (GRCm39)	M458I	probably benign	Het
Pde11a	T	C	2: 76,121,585 (GRCm39)	D332G	possibly damaging	Het
Pkd1l1	C	T	11: 8,908,964 (GRCm39)	E347K	unknown	Het
Pou2af1	G	A	9: 51,149,525 (GRCm39)	V206I	possibly damaging	Het
Prr16	A	G	18: 51,251,139 (GRCm39)	D46G	possibly damaging	Het
Pus1	A	G	5: 110,928,184 (GRCm39)	M1T	probably null	Het
Pygm	T	A	19: 6,441,439 (GRCm39)	V566D	possibly damaging	Het
Rb1	T	A	14: 73,499,954 (GRCm39)		probably benign	Het
Rhoj	A	T	12: 75,446,980 (GRCm39)	K200*	probably null	Het
Rnf213	A	G	11: 119,328,521 (GRCm39)	I1985V	possibly damaging	Het
Septin11	G	T	5: 93,310,113 (GRCm39)	M305I	possibly damaging	Het
Setdb2	T	C	14: 59,653,153 (GRCm39)	Y383C	probably damaging	Het
Sfpq	G	C	4: 126,915,404 (GRCm39)	Q65H	unknown	Het
Skic8	A	G	9: 54,635,463 (GRCm39)	V46A	probably benign	Het
Tanc2	A	G	11: 105,801,066 (GRCm39)	N1094S	probably benign	Het
Trf	C	T	9: 103,089,184 (GRCm39)	A554T	possibly damaging	Het
Trmt13	T	C	3: 116,388,476 (GRCm39)		probably benign	Het
Tubb3	A	G	8: 124,147,658 (GRCm39)	D197G	probably damaging	Het
Ube2e3	A	G	2: 78,749,056 (GRCm39)	H135R	probably damaging	Het
Ugt1a10	A	T	1: 87,983,204 (GRCm39)	M1L	possibly damaging	Het
Vmn1r233	A	T	17: 21,214,677 (GRCm39)	I91N	possibly damaging	Het
Vmn2r88	A	T	14: 51,655,531 (GRCm39)	D580V	probably damaging	Het
Vps33b	A	G	7: 79,940,866 (GRCm39)	Y593C	probably benign	Het
Wdr19	A	G	5: 65,385,885 (GRCm39)	T622A	possibly damaging	Het
Wdr3	C	T	3: 100,047,516 (GRCm39)	R853Q	probably damaging	Het
Xirp1	T	C	9: 119,845,572 (GRCm39)	T1104A	probably benign	Het
Yipf1	G	A	4: 107,201,880 (GRCm39)		probably null	Het
Zbtb17	A	G	4: 141,193,809 (GRCm39)	D651G	probably damaging	Het
Zbtb42	C	T	12: 112,646,976 (GRCm39)	R384W	probably damaging	Het
Zbtb43	A	T	2: 33,344,055 (GRCm39)	M390K	probably benign	Het
Zfp462	C	T	4: 55,011,889 (GRCm39)	T1285M	probably damaging	Het

Other mutations in Stard3nl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01907:Stard3nl	APN	13	19,556,759 (GRCm39)	missense	probably damaging	1.00
IGL03080:Stard3nl	APN	13	19,554,648 (GRCm39)	critical splice donor site	probably null
R0838:Stard3nl	UTSW	13	19,556,756 (GRCm39)	critical splice donor site	probably null
R1436:Stard3nl	UTSW	13	19,556,819 (GRCm39)	missense	probably damaging	1.00
R1625:Stard3nl	UTSW	13	19,556,754 (GRCm39)	splice site	probably null
R4360:Stard3nl	UTSW	13	19,554,654 (GRCm39)	missense	probably damaging	1.00
R4599:Stard3nl	UTSW	13	19,551,923 (GRCm39)	missense	probably damaging	1.00
R4667:Stard3nl	UTSW	13	19,560,689 (GRCm39)	missense	probably damaging	1.00
R4668:Stard3nl	UTSW	13	19,560,689 (GRCm39)	missense	probably damaging	1.00
R4669:Stard3nl	UTSW	13	19,560,689 (GRCm39)	missense	probably damaging	1.00
R4740:Stard3nl	UTSW	13	19,560,736 (GRCm39)	missense	probably damaging	0.99
R4740:Stard3nl	UTSW	13	19,551,948 (GRCm39)	missense	probably benign	0.34
R7633:Stard3nl	UTSW	13	19,552,008 (GRCm39)	missense	probably damaging	1.00
R7673:Stard3nl	UTSW	13	19,551,923 (GRCm39)	missense	probably benign	0.32
R8080:Stard3nl	UTSW	13	19,554,521 (GRCm39)	missense	probably damaging	0.99
R8268:Stard3nl	UTSW	13	19,560,629 (GRCm39)	missense	probably damaging	1.00
R9163:Stard3nl	UTSW	13	19,560,809 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ATGCACTCAGATGTCCACC -3'
(R):5'- AGGTATGTGTGACTCTCCTCC -3'

Sequencing Primer
(F):5'- TCAGATGTCCACCCACTTCAC -3'
(R):5'- TCTGTGCCCCGAGGAAGTC -3'

Posted On

2015-09-25