Mutagenetix > Incidental Mutation

Incidental Mutation 'R4740:Stard3nl'

359643

Institutional Source

Beutler Lab

Gene Symbol

Stard3nl

Ensembl Gene

ENSMUSG00000003062

Gene Name

STARD3 N-terminal like

Synonyms

0610035N01Rik, 6530409L22Rik

MMRRC Submission

041965-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R4740 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

19541846-19579965 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 19551948 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 166 (M166K)

Ref Sequence

ENSEMBL: ENSMUSP00000152373 (fasta)

Gene Model

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

AlphaFold

Q9DCI3

Predicted Effect

probably benign
Transcript: ENSMUST00000039694
AA Change: D205E

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

SMART Domains

Protein: ENSMUSP00000037991
Gene: ENSMUSG00000003062
AA Change: D205E

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

probably benign
Transcript: ENSMUST00000197565
AA Change: D205E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199278

Predicted Effect

probably benign
Transcript: ENSMUST00000200323
AA Change: D205E

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000142680
Gene: ENSMUSG00000003062
AA Change: D205E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000221380
AA Change: D205E

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000222869
AA Change: M166K

PolyPhen 2 Score 0.335 (Sensitivity: 0.90; Specificity: 0.89)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (95/95)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510009E07Rik	C	T	16: 21,513,146 (GRCm39)	A4T	probably benign	Het
Aacs	T	C	5: 125,583,316 (GRCm39)	S291P	probably damaging	Het
Abcb1a	T	C	5: 8,752,280 (GRCm39)		probably null	Het
Apol10a	C	T	15: 77,372,841 (GRCm39)	T159I	possibly damaging	Het
Arhgap5	A	T	12: 52,565,860 (GRCm39)	M944L	probably benign	Het
Atg16l2	A	G	7: 100,946,385 (GRCm39)	L129P	probably damaging	Het
Baiap2l2	T	A	15: 79,143,951 (GRCm39)	Y381F	probably benign	Het
Chd6	A	T	2: 160,812,103 (GRCm39)	D1363E	probably benign	Het
Ciao3	A	T	17: 26,000,283 (GRCm39)	H322L	probably damaging	Het
Cir1	T	C	2: 73,142,867 (GRCm39)		probably benign	Het
Clec4a2	T	C	6: 123,117,622 (GRCm39)	I180T	probably damaging	Het
Clec4d	T	A	6: 123,245,072 (GRCm39)	H117Q	probably damaging	Het
Cntnap2	A	T	6: 45,037,251 (GRCm39)	R10W	possibly damaging	Het
Coro6	A	G	11: 77,360,025 (GRCm39)	E362G	possibly damaging	Het
Ctr9	T	A	7: 110,634,578 (GRCm39)	C196S	probably benign	Het
Cyp2c55	A	G	19: 39,007,173 (GRCm39)	K190E	probably benign	Het
Dbt	T	C	3: 116,332,781 (GRCm39)	I200T	probably damaging	Het
Dnah11	A	G	12: 118,084,279 (GRCm39)	F1242L	probably benign	Het
Dnah2	A	G	11: 69,348,868 (GRCm39)	W2534R	probably damaging	Het
Dph7	T	C	2: 24,853,143 (GRCm39)	S86P	possibly damaging	Het
Dpp9	A	C	17: 56,505,970 (GRCm39)		probably null	Het
Eif4g3	T	A	4: 137,925,408 (GRCm39)	S1584T	probably benign	Het
Eml4	T	G	17: 83,717,459 (GRCm39)	D10E	probably damaging	Het
Enpp1	A	T	10: 24,555,146 (GRCm39)	C67S	probably null	Het
Epn1	A	G	7: 5,093,012 (GRCm39)	D108G	probably damaging	Het
Eps15	A	G	4: 109,200,387 (GRCm39)	Y2C	probably damaging	Het
Fam135b	C	T	15: 71,335,920 (GRCm39)	V425I	probably benign	Het
Frem2	G	A	3: 53,443,240 (GRCm39)	A2508V	probably benign	Het
Fzd3	T	A	14: 65,473,193 (GRCm39)	M192L	possibly damaging	Het
Gls	C	T	1: 52,271,947 (GRCm39)	A69T	probably damaging	Het
Gm10051	T	A	5: 133,504,113 (GRCm39)		noncoding transcript	Het
Gm9271	A	G	7: 39,013,346 (GRCm39)		noncoding transcript	Het
Gramd1b	T	C	9: 40,227,128 (GRCm39)		probably null	Het
Gvin-ps6	G	A	7: 106,022,782 (GRCm39)		noncoding transcript	Het
H2-T23	A	T	17: 36,343,016 (GRCm39)		probably benign	Het
H2-T5	T	A	17: 36,478,448 (GRCm39)	I195F	probably damaging	Het
Hmbox1	G	A	14: 65,134,483 (GRCm39)	T39I	probably damaging	Het
Hmx1	A	G	5: 35,549,115 (GRCm39)	E136G	probably damaging	Het
Hpdl	T	C	4: 116,678,221 (GRCm39)	N80S	probably damaging	Het
Hydin	A	G	8: 111,173,071 (GRCm39)	N918S	probably benign	Het
Igkv5-37	T	A	6: 69,940,306 (GRCm39)	S113C	probably damaging	Het
Il36rn	T	C	2: 24,167,503 (GRCm39)		probably benign	Het
Mab21l4	A	C	1: 93,083,890 (GRCm39)	M189R	probably benign	Het
Marco	G	T	1: 120,422,499 (GRCm39)	T61K	probably damaging	Het
Med1	T	A	11: 98,071,090 (GRCm39)	R86*	probably null	Het
Mertk	A	G	2: 128,593,914 (GRCm39)	Y306C	probably damaging	Het
Mgat4c	T	C	10: 102,224,265 (GRCm39)	F160L	probably damaging	Het
Midn	A	T	10: 79,987,238 (GRCm39)	E88V	probably null	Het
Muc4	G	A	16: 32,596,277 (GRCm39)	R3163H	possibly damaging	Het
Naip1	T	C	13: 100,581,034 (GRCm39)	D71G	possibly damaging	Het
Nhlrc4	T	C	17: 26,162,577 (GRCm39)	T57A	probably benign	Het
Nlrp1a	T	C	11: 71,004,466 (GRCm39)		probably null	Het
Npffr2	A	T	5: 89,730,879 (GRCm39)	K270*	probably null	Het
Or10a3	T	G	7: 108,480,689 (GRCm39)	E41D	probably benign	Het
Or2b6	T	A	13: 21,823,340 (GRCm39)	M118L	possibly damaging	Het
Or51e1	T	A	7: 102,359,378 (GRCm39)	I304N	probably damaging	Het
Or8g26	T	A	9: 39,095,664 (GRCm39)	Y60*	probably null	Het
Or8k40	C	T	2: 86,584,155 (GRCm39)	C309Y	probably benign	Het
Otub2	T	A	12: 103,359,103 (GRCm39)	L64Q	probably benign	Het
Pabpc4l	C	G	3: 46,400,570 (GRCm39)	G358A	possibly damaging	Het
Pabpc4l	C	T	3: 46,400,579 (GRCm39)	R355H	probably benign	Het
Parp1	T	C	1: 180,417,033 (GRCm39)	S606P	probably damaging	Het
Pkhd1	A	G	1: 20,594,354 (GRCm39)	V1253A	probably benign	Het
Psg29	G	A	7: 16,942,458 (GRCm39)	R153H	probably benign	Het
Rbm25	A	G	12: 83,691,181 (GRCm39)	M58V	possibly damaging	Het
Rbm28	T	C	6: 29,125,353 (GRCm39)		probably benign	Het
Ryr2	A	G	13: 11,671,933 (GRCm39)	S3436P	possibly damaging	Het
Slc3a1	A	G	17: 85,354,181 (GRCm39)	I335V	probably benign	Het
Slc4a4	T	C	5: 89,373,753 (GRCm39)	F953S	probably damaging	Het
Spata20	A	G	11: 94,375,404 (GRCm39)	I130T	possibly damaging	Het
Spata31h1	T	C	10: 82,119,481 (GRCm39)	T4510A	possibly damaging	Het
Srcap	T	C	7: 127,148,471 (GRCm39)	S1879P	probably damaging	Het
St18	G	C	1: 6,887,828 (GRCm39)	V466L	probably benign	Het
Stil	A	G	4: 114,863,979 (GRCm39)	T74A	probably benign	Het
Syt6	T	G	3: 103,532,972 (GRCm39)	M367R	probably damaging	Het
Tacc1	T	C	8: 25,672,581 (GRCm39)	T125A	possibly damaging	Het
Tbc1d8	G	A	1: 39,441,959 (GRCm39)	T211I	possibly damaging	Het
Tcaf1	A	G	6: 42,663,809 (GRCm39)	S24P	probably benign	Het
Trim75	T	G	8: 65,435,199 (GRCm39)	Y417S	probably damaging	Het
Ttll12	T	C	15: 83,464,321 (GRCm39)	Y503C	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Unc5c	A	T	3: 141,522,692 (GRCm39)	Y706F	probably benign	Het
Zfp593	T	C	4: 133,972,077 (GRCm39)		probably benign	Het
Zfp956	T	C	6: 47,939,476 (GRCm39)	S175P	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
R4609:Stard3nl	UTSW	13	19,554,434 (GRCm39)	missense	probably damaging	0.98
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
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'- TTTGGTCAGGCCCATTGCTC -3'
(R):5'- ATCTTCACAAGGTTGGTGTGTC -3'

Sequencing Primer
(F):5'- GCCATCTGTCACCACTGG -3'
(R):5'- CTCAAAGTACCTTGTTTTTCTGACAG -3'

Posted On

2015-11-11