Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4687001:Tm9sf3'

556212

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf3

Ensembl Gene

ENSMUSG00000025016

Gene Name

transmembrane 9 superfamily member 3

Synonyms

1810073M23Rik, 2810031D16Rik, Smbp

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

PIT4687001 (G1)

Quality Score

178.009

Status

Not validated

Chromosome

Chromosomal Location

41210842-41264004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41218191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 505 (L505P)

Ref Sequence

ENSEMBL: ENSMUSP00000025989 (fasta)

Gene Model

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

AlphaFold

Q9ET30

Predicted Effect

probably damaging
Transcript: ENSMUST00000025989
AA Change: L505P

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

SMART Domains

Protein: ENSMUSP00000025989
Gene: ENSMUSG00000025016
AA Change: L505P

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: 93.4%
3x: 90.8%
10x: 84.7%
20x: 71.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	T	G	3: 138,289,835	V333G	probably damaging	Het
Aggf1	A	G	13: 95,364,875	L333P	probably damaging	Het
Ankmy1	A	G	1: 92,885,081	V502A	probably benign	Het
Atm	A	G	9: 53,486,812		probably null	Het
Ccdc180	A	G	4: 45,949,526	T1594A	probably damaging	Het
Cep290	T	A	10: 100,537,591	D1244E	probably benign	Het
Ctnna3	A	G	10: 64,834,606	D638G	probably damaging	Het
Ctsr	T	C	13: 61,160,532	H266R	possibly damaging	Het
D630045J12Rik	C	T	6: 38,195,101	E711K	probably benign	Het
Dnah5	T	C	15: 28,383,577	S2982P	probably damaging	Het
Dsg1a	G	T	18: 20,331,698	A417S	probably benign	Het
Gdpd1	T	C	11: 87,059,540	D69G	probably damaging	Het
Gm13103	C	T	4: 143,846,533		probably benign	Het
Gp2	C	T	7: 119,451,578	R310H	possibly damaging	Het
Ifna2	G	A	4: 88,683,305	H159Y	possibly damaging	Het
Kptn	T	C	7: 16,125,826	V325A	probably damaging	Het
March7	A	G	2: 60,232,278	E143G	probably damaging	Het
Mcm4	A	G	16: 15,636,713	L47P	probably benign	Het
Mcm8	T	C	2: 132,817,177	F27S	possibly damaging	Het
Nod2	T	A	8: 88,681,646	V967E	probably damaging	Het
Nrxn2	G	A	19: 6,481,308	R659Q	probably benign	Het
Olfr120	T	G	17: 37,726,191	C56G	probably benign	Het
Olfr1267-ps1	A	G	2: 90,086,389	V24A	probably benign	Het
Parp10	C	T	15: 76,240,922	R545Q	probably benign	Het
Ppp2r3a	T	C	9: 101,144,380	E332G	probably benign	Het
Ptpdc1	A	G	13: 48,586,290	V555A	probably benign	Het
Qsox2	G	A	2: 26,222,288	L81F	possibly damaging	Het
Sbsn	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA	7: 30,752,966		probably benign	Het
Spata31	A	G	13: 64,921,337	D433G	probably benign	Het
Stpg2	T	C	3: 139,215,265	I77T	possibly damaging	Het
Sugp2	T	C	8: 70,257,512	S928P	probably damaging	Het
Syne1	A	G	10: 5,358,390	S722P	possibly damaging	Het
Szt2	A	T	4: 118,398,201	S229T	possibly damaging	Het
Ttc39d	G	A	17: 80,216,925	A338T	probably damaging	Het
Ubash3b	A	G	9: 41,023,518	F489L	probably damaging	Het
Xpo7	A	T	14: 70,667,149	Y1015N	probably benign	Het
Zbtb14	C	A	17: 69,388,307	Y333*	probably null	Het
Zp2	T	C	7: 120,141,879	T141A	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
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
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'- CCTCTCCTCAGCTTGACAAG -3'
(R):5'- ACTGTTTGGGAATTACTAGGAAGG -3'

Sequencing Primer
(F):5'- CCTCAGCTTGACAAGTTTCAGATG -3'
(R):5'- AGGGTGATAATGAGTTTTAAGTGAC -3'

Posted On

2019-06-07