Mutagenetix > Incidental Mutation

Incidental Mutation 'R1748:Tm9sf3'

194173

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf3

Ensembl Gene

ENSMUSG00000025016

Gene Name

transmembrane 9 superfamily member 3

Synonyms

1810073M23Rik, 2810031D16Rik, Smbp

MMRRC Submission

039780-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1748 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41210842-41264004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 41256229 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 70 (S70R)

Ref Sequence

ENSEMBL: ENSMUSP00000025989 (fasta)

Gene Model

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

AlphaFold

Q9ET30

Predicted Effect

probably benign
Transcript: ENSMUST00000025989
AA Change: S70R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000025989
Gene: ENSMUSG00000025016
AA Change: S70R

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: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	T	16: 20,333,588	Q1403K	probably benign	Het
Adamts12	G	A	15: 11,241,462	M373I	probably damaging	Het
Agrp	G	T	8: 105,566,835	T106K	probably damaging	Het
Aire	T	C	10: 78,043,480	H15R	probably damaging	Het
Aldh3b2	T	C	19: 3,977,572	F38L	probably damaging	Het
Alk	A	C	17: 72,603,421	C97G	probably benign	Het
Ano8	T	C	8: 71,478,958		probably benign	Het
Anpep	C	T	7: 79,838,256	E518K	probably benign	Het
Arsk	T	A	13: 76,062,410	H506L	probably benign	Het
Asgr2	G	T	11: 70,096,832	R52L	probably damaging	Het
Atp2a1	A	G	7: 126,459,608	I145T	possibly damaging	Het
Atrnl1	A	G	19: 57,714,702	T1051A	probably damaging	Het
Cacna1e	A	T	1: 154,486,569	V424D	possibly damaging	Het
Capn3	T	C	2: 120,497,013	V574A	probably benign	Het
Capzb	C	A	4: 139,257,368	D67E	probably damaging	Het
Ccdc68	A	T	18: 69,955,991	T202S	probably benign	Het
Ccser2	T	A	14: 36,896,314	K123*	probably null	Het
Ccser2	T	C	14: 36,896,313	K123R	probably damaging	Het
Ces2h	T	C	8: 105,017,841	I316T	probably benign	Het
Chd3	T	G	11: 69,364,697	K122Q	possibly damaging	Het
Col12a1	T	C	9: 79,672,997	T1533A	probably benign	Het
Cr2	T	A	1: 195,155,905	K1084*	probably null	Het
Ddx28	A	G	8: 106,010,682	L248P	probably benign	Het
Depdc5	A	G	5: 32,917,942	E488G	probably benign	Het
Dld	T	C	12: 31,334,746	T305A	probably benign	Het
Dok5	T	A	2: 170,841,453	F211L	probably damaging	Het
Duox2	T	C	2: 122,287,051	D934G	probably benign	Het
Eif3a	G	A	19: 60,766,798	T982I	unknown	Het
Erbb2	G	T	11: 98,435,335	R979L	probably benign	Het
Espl1	G	T	15: 102,298,529	V143L	possibly damaging	Het
Fanci	T	C	7: 79,430,488	L598P	probably damaging	Het
Fat2	T	A	11: 55,256,647	E3923V	probably damaging	Het
Fhod3	A	T	18: 24,770,493	K95*	probably null	Het
Gm16286	T	C	18: 80,211,946	S152P	probably benign	Het
Gm7534	C	G	4: 134,200,299	C381S	probably damaging	Het
Gm7534	T	A	4: 134,202,119	T292S	possibly damaging	Het
Gpr108	G	T	17: 57,236,217	T484K	probably damaging	Het
Hao1	T	A	2: 134,498,318	N351I	possibly damaging	Het
Hepacam	A	T	9: 37,383,893	N308I	possibly damaging	Het
Herc2	T	C	7: 56,148,823		probably null	Het
Hltf	T	C	3: 20,076,521	I301T	probably benign	Het
Igsf10	A	T	3: 59,319,093	N2386K	probably damaging	Het
Ikbke	G	T	1: 131,259,200	T585K	probably benign	Het
Iqgap3	A	G	3: 88,113,980	T448A	possibly damaging	Het
Kl	T	C	5: 150,980,985	S401P	possibly damaging	Het
Lama4	T	C	10: 39,065,619	V684A	probably benign	Het
Lgals8	A	T	13: 12,454,943	F45Y	probably damaging	Het
Lgalsl	G	A	11: 20,826,491	R134C	probably benign	Het
Lmcd1	T	C	6: 112,329,914	V349A	probably benign	Het
Lrp1b	T	A	2: 41,728,706	N119Y	possibly damaging	Het
Lrrc73	T	A	17: 46,255,695	I157N	probably damaging	Het
Map3k8	A	G	18: 4,334,766	Y293H	probably damaging	Het
Mybphl	A	T	3: 108,375,084		probably null	Het
Ndrg1	A	G	15: 66,931,081	M140T	possibly damaging	Het
Olfr138	T	A	17: 38,275,106	C112S	possibly damaging	Het
Olfr885	A	G	9: 38,061,500	Y60C	probably damaging	Het
Pbx2	T	C	17: 34,593,977	S76P	possibly damaging	Het
Plcl2	T	A	17: 50,606,798	S278R	probably benign	Het
Polr3d	A	T	14: 70,439,475	L393*	probably null	Het
Prmt6	T	C	3: 110,250,367	Q202R	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Sag	T	A	1: 87,831,940	I300N	probably damaging	Het
Sap25	T	A	5: 137,641,918		probably null	Het
Scarb2	A	G	5: 92,460,836	L177P	probably damaging	Het
Sh3pxd2b	A	T	11: 32,422,203	N457Y	possibly damaging	Het
Siae	T	A	9: 37,631,606		probably null	Het
Slc36a1	T	C	11: 55,228,324	L375P	probably damaging	Het
Smg8	A	G	11: 87,085,768	V329A	probably damaging	Het
Tas2r113	A	T	6: 132,893,732	Y241F	probably damaging	Het
Tmem144	C	T	3: 79,825,287	S228N	probably damaging	Het
Tmem45a	C	A	16: 56,822,338	V157F	possibly damaging	Het
Tpbg	G	T	9: 85,844,376	V133L	probably damaging	Het
Trpv3	G	A	11: 73,295,383	V667I	possibly damaging	Het
Ube2c	T	C	2: 164,771,321	F53S	probably damaging	Het
Vmn1r78	T	A	7: 12,153,323	V287D	probably damaging	Het
Vmn2r114	T	A	17: 23,308,061	D499V	probably benign	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
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'- TAGGCAGCGCCTACAAAGAGACTC -3'
(R):5'- TTGGGGAAAATGGATTCTGAGACCAC -3'

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

Posted On

2014-05-23