Mutagenetix > Incidental Mutation

Incidental Mutation 'R1224:Tm9sf3'

152852

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf3

Ensembl Gene

ENSMUSG00000025016

Gene Name

transmembrane 9 superfamily member 3

Synonyms

1810073M23Rik, 2810031D16Rik, Smbp

MMRRC Submission

039293-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1224 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41210842-41264004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 41223195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 403 (V403D)

Ref Sequence

ENSEMBL: ENSMUSP00000025989 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025989]

AlphaFold

Q9ET30

Predicted Effect

probably damaging
Transcript: ENSMUST00000025989
AA Change: V403D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025989
Gene: ENSMUSG00000025016
AA Change: V403D

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
Pfam:EMP70	55	544	6.2e-164	PFAM
transmembrane domain	549	571	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	A	15: 8,178,385	C207S	probably benign	Het
Abca8a	T	A	11: 110,040,582	E1248D	probably damaging	Het
Abcb10	C	T	8: 123,962,052	G495D	probably damaging	Het
Aldh16a1	T	C	7: 45,142,047		probably null	Het
Aldh9a1	T	A	1: 167,352,658	I107N	probably damaging	Het
Atp6ap1l	G	A	13: 90,886,556	Q236*	probably null	Het
Ccdc39	T	C	3: 33,826,480	K446R	probably damaging	Het
Cd46	A	T	1: 195,062,398	I344K	possibly damaging	Het
Ces3a	A	T	8: 105,051,509	D204V	probably damaging	Het
Clstn3	T	C	6: 124,457,919	S346G	probably benign	Het
Dock1	A	G	7: 135,108,819	D1190G	possibly damaging	Het
Gimap8	G	A	6: 48,650,695	S201N	probably benign	Het
Gm10153	A	G	7: 142,190,335	S19P	unknown	Het
Igfn1	A	G	1: 135,969,756	V1024A	probably benign	Het
Kcng3	A	G	17: 83,631,395	L75P	probably damaging	Het
Krt31	C	T	11: 100,049,864		probably null	Het
Ly6a	A	G	15: 74,996,478	V54A	possibly damaging	Het
Map3k7cl	T	A	16: 87,556,003	D21E	probably benign	Het
Olfr1537	G	C	9: 39,238,251	P58A	probably benign	Het
Rapsn	T	C	2: 91,043,198	L230P	probably damaging	Het
Rhog	C	A	7: 102,239,752	V165F	possibly damaging	Het
Slc44a4	T	C	17: 34,921,868	V313A	probably benign	Het
Sox14	G	C	9: 99,875,115	H190Q	probably damaging	Het
Sval2	G	A	6: 41,864,254	D103N	probably benign	Het
Tmem269	T	C	4: 119,217,126	K18R	probably benign	Het
Unc80	T	C	1: 66,471,980	F49S	probably damaging	Het
Zdhhc7	T	A	8: 120,082,572	T299S	probably benign	Het
Zfp52	T	C	17: 21,555,062	V6A	possibly damaging	Het

Other mutations in Tm9sf3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01395:Tm9sf3	APN	19	41256276	missense	probably damaging	1.00
IGL02176:Tm9sf3	APN	19	41246637	splice site	probably benign
PIT4687001:Tm9sf3	UTSW	19	41218191	missense	probably damaging	1.00
R0504:Tm9sf3	UTSW	19	41247892	splice site	probably benign
R0564:Tm9sf3	UTSW	19	41245525	splice site	probably benign
R0586:Tm9sf3	UTSW	19	41256143	critical splice donor site	probably null
R1533:Tm9sf3	UTSW	19	41238784	missense	probably benign	0.00
R1646:Tm9sf3	UTSW	19	41223179	missense	possibly damaging	0.79
R1748:Tm9sf3	UTSW	19	41256229	missense	probably benign	0.01
R2022:Tm9sf3	UTSW	19	41238792	missense	probably damaging	1.00
R2172:Tm9sf3	UTSW	19	41217420	missense	probably damaging	1.00
R3844:Tm9sf3	UTSW	19	41217116	missense	possibly damaging	0.95
R3878:Tm9sf3	UTSW	19	41246713	missense	probably damaging	0.98
R4384:Tm9sf3	UTSW	19	41247933	missense	probably damaging	1.00
R4385:Tm9sf3	UTSW	19	41247933	missense	probably damaging	1.00
R4582:Tm9sf3	UTSW	19	41256166	missense	probably damaging	1.00
R5497:Tm9sf3	UTSW	19	41215116	missense	probably benign	0.03
R5876:Tm9sf3	UTSW	19	41240584	missense	probably damaging	1.00
R6305:Tm9sf3	UTSW	19	41245442	critical splice donor site	probably null
R6924:Tm9sf3	UTSW	19	41218278	missense	probably damaging	1.00
R6936:Tm9sf3	UTSW	19	41223199	missense	probably benign	0.44
R7121:Tm9sf3	UTSW	19	41245505	nonsense	probably null
R7287:Tm9sf3	UTSW	19	41217379	missense	probably damaging	1.00
R7303:Tm9sf3	UTSW	19	41238759	missense	probably damaging	0.97
R7677:Tm9sf3	UTSW	19	41221304	missense	probably damaging	1.00
R8212:Tm9sf3	UTSW	19	41240635	missense	probably damaging	0.99
R8220:Tm9sf3	UTSW	19	41215087	missense	possibly damaging	0.80
R8715:Tm9sf3	UTSW	19	41256285	missense	probably damaging	1.00
X0026:Tm9sf3	UTSW	19	41246762	missense	possibly damaging	0.91
X0026:Tm9sf3	UTSW	19	41246763	nonsense	probably null
Z1088:Tm9sf3	UTSW	19	41232378	missense	probably damaging	1.00
Z1176:Tm9sf3	UTSW	19	41238809	missense	probably damaging	1.00
Z1177:Tm9sf3	UTSW	19	41245445	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTGTGTACTGACACGAGAATCGC -3'
(R):5'- GGACTCCTTGTGCATGTTAGGAGC -3'

Sequencing Primer
(F):5'- CGCACTAATATTCAGATGGCAG -3'
(R):5'- AGAGATGTAAACGGTGCTCTGTC -3'

Posted On

2014-01-29