Mutagenetix > Incidental Mutation

Incidental Mutation 'R8715:Tm9sf3'

669849

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf3

Ensembl Gene

ENSMUSG00000025016

Gene Name

transmembrane 9 superfamily member 3

Synonyms

1810073M23Rik, 2810031D16Rik, Smbp

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8715 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41210842-41264004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41256285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 51 (N51I)

Ref Sequence

ENSEMBL: ENSMUSP00000025989 (fasta)

Gene Model

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

AlphaFold

Q9ET30

Predicted Effect

probably damaging
Transcript: ENSMUST00000025989
AA Change: N51I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025989
Gene: ENSMUSG00000025016
AA Change: N51I

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

Meta Mutation Damage Score

0.5970

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	A	C	15: 84,417,145	V99G	probably damaging	Het
Abcb1b	A	T	5: 8,812,750	H144L	probably benign	Het
Adam25	A	G	8: 40,754,062	N122D	probably benign	Het
Armc10	T	C	5: 21,653,518	F187S	possibly damaging	Het
Best3	T	A	10: 116,993,066	F84I	probably damaging	Het
Card11	A	T	5: 140,885,560	D729E	probably benign	Het
Ccdc60	A	T	5: 116,190,094	F104I	probably benign	Het
Ccdc88b	T	C	19: 6,855,845	E278G	probably damaging	Het
Cd209d	CAT	C	8: 3,873,772		probably null	Het
Cdhr4	G	A	9: 107,997,397	V9M		Het
Cfap46	T	C	7: 139,605,644	T41A		Het
Cyp2c66	A	G	19: 39,170,944	T280A	probably benign	Het
Dis3l	C	T	9: 64,307,060	D1049N	probably benign	Het
Dlc1	T	A	8: 36,938,641		probably benign	Het
Faap100	T	C	11: 120,374,473	T526A	probably benign	Het
Fam214b	A	G	4: 43,033,944	V444A	possibly damaging	Het
Gimap6	A	T	6: 48,702,618	D161E	probably damaging	Het
Gmpr	T	C	13: 45,542,626	V282A	possibly damaging	Het
Gsap	A	G	5: 21,226,247	I190V	possibly damaging	Het
Gucy2d	C	T	7: 98,444,112	T232I	probably benign	Het
Lgals4	C	T	7: 28,841,496	R282C	probably damaging	Het
Lrp1	C	A	10: 127,560,621	S2358I	possibly damaging	Het
Lrrc74a	A	G	12: 86,758,465	N354D	probably damaging	Het
Mdga2	T	C	12: 66,868,752	E112G	probably damaging	Het
Msh6	C	T	17: 87,985,767	T650I	probably benign	Het
Mst1	T	C	9: 108,082,043	V203A	possibly damaging	Het
Muc1	G	A	3: 89,231,514	V477M	possibly damaging	Het
Naa11	A	G	5: 97,392,207	Y31H	probably damaging	Het
Nphp1	G	T	2: 127,763,809	H365Q	possibly damaging	Het
Olfr1025-ps1	G	A	2: 85,917,929	M1I	probably null	Het
Olfr1390	A	T	11: 49,341,327	Y265F	probably damaging	Het
Olfr409-ps1	T	A	11: 74,317,160	I45N	probably damaging	Het
Osbpl9	A	G	4: 109,102,576	F15S	probably benign	Het
Pcdha12	A	C	18: 37,020,470	N81H	probably damaging	Het
Pde4d	A	G	13: 109,935,342	Q290R	probably benign	Het
Pla1a	A	T	16: 38,409,638	N237K	probably damaging	Het
Podnl1	T	C	8: 84,129,327	Y239H		Het
Pou4f3	G	T	18: 42,395,528	D179Y	possibly damaging	Het
Ptch2	T	C	4: 117,111,522	V995A	probably damaging	Het
Ptprt	C	T	2: 161,530,543	C1403Y	probably damaging	Het
Rab7	T	C	6: 88,012,387	S34G	probably damaging	Het
Rspry1	A	G	8: 94,623,260	E92G	probably damaging	Het
Sdccag8	T	A	1: 176,946,237		probably benign	Het
Sdk2	G	A	11: 113,780,902	T2140M	probably damaging	Het
Serpina1e	T	C	12: 103,950,918	N164S	probably benign	Het
Tdrkh	T	C	3: 94,424,661	V131A	probably damaging	Het
Trav4-3	A	G	14: 53,599,305	N76D	possibly damaging	Het
Trhr2	T	A	8: 122,358,880	I122F	probably damaging	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Vmn2r99	A	T	17: 19,393,660		probably benign	Het
Zfp663	T	C	2: 165,352,724	E525G	probably damaging	Het
Zfp976	C	T	7: 42,613,445	E324K	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
R1224:Tm9sf3	UTSW	19	41223195	missense	probably damaging	1.00
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
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'- ACGTCAGTAAGGACTACCAATGC -3'
(R):5'- ATGGATTCTGAGACCACAATCAG -3'

Sequencing Primer
(F):5'- GTAAGGACTACCAATGCTAACTTAC -3'
(R):5'- ACCCTTGATTTTGAAAGTGTGGAC -3'

Posted On

2021-04-30