Mutagenetix > Incidental Mutation

Incidental Mutation 'R6936:Tm9sf3'

540322

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 #

R6936 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41210842-41264004 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41223199 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 402 (F402L)

Ref Sequence

ENSEMBL: ENSMUSP00000025989 (fasta)

Gene Model

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

AlphaFold

Q9ET30

Predicted Effect

probably benign
Transcript: ENSMUST00000025989
AA Change: F402L

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000025989
Gene: ENSMUSG00000025016
AA Change: F402L

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

0.0980

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 99.0%
20x: 96.7%

Validation Efficiency

98% (48/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,298,568	I2772F	probably damaging	Het
Adam1a	A	G	5: 121,519,362	C623R	probably damaging	Het
Ak2	T	C	4: 128,999,212	S55P	probably damaging	Het
Ak4	C	T	4: 101,447,259	A82V	probably benign	Het
Arhgap10	A	T	8: 77,310,747	C617*	probably null	Het
Art1	A	T	7: 102,106,770	D56V	possibly damaging	Het
Ascc3	A	G	10: 50,729,961	D1392G	probably damaging	Het
Bbs5	T	C	2: 69,654,354	S123P	probably damaging	Het
Cabin1	A	T	10: 75,715,758		probably null	Het
Carmil3	G	A	14: 55,501,561	E891K	probably benign	Het
Cbfa2t3	C	G	8: 122,647,739	R89P	probably damaging	Het
Ccdc157	A	G	11: 4,144,030	S534P	probably benign	Het
Cep72	A	T	13: 74,040,087	I229N	probably damaging	Het
Cnn3	C	T	3: 121,450,053		probably benign	Het
Cyp2c70	A	G	19: 40,167,563	V181A	probably damaging	Het
Cyp2d26	C	T	15: 82,792,540	D202N	probably benign	Het
Dbh	A	G	2: 27,172,797	K343E	probably benign	Het
Dlx5	A	G	6: 6,879,585	Y161H	probably damaging	Het
Dnah5	A	T	15: 28,409,268	I3611F	probably damaging	Het
Egf	A	C	3: 129,681,204	F563V	possibly damaging	Het
Enpp1	T	C	10: 24,651,339	H650R	probably benign	Het
Exoc6	A	G	19: 37,571,863	I109M	probably benign	Het
Fan1	T	A	7: 64,372,486	N340Y	probably damaging	Het
Fgg	C	T	3: 83,008,420	S56F	possibly damaging	Het
Fras1	A	G	5: 96,768,352	D3415G	possibly damaging	Het
Ghsr	A	G	3: 27,372,325	I177V	probably benign	Het
Gm1979	A	T	5: 26,002,030	H62Q	probably benign	Het
Gpatch2	A	G	1: 187,233,236	D313G	probably benign	Het
Gtf2i	C	T	5: 134,242,785	E823K	probably damaging	Het
Hook2	C	A	8: 85,002,998	T689N	probably benign	Het
Hrnr	A	T	3: 93,332,360	N3302Y	unknown	Het
Igkv7-33	G	A	6: 70,058,801	P66S	possibly damaging	Het
Kcnh2	T	A	5: 24,324,339	I800F	probably damaging	Het
Mcmbp	G	A	7: 128,725,196	Q21*	probably null	Het
Mmp21	T	C	7: 133,678,975	K89E	probably benign	Het
Olfr142	A	G	2: 90,252,334	V218A	probably benign	Het
Olfr584	A	T	7: 103,085,814	I94F	probably damaging	Het
Pcdhga4	A	G	18: 37,687,405	D669G	possibly damaging	Het
Ralgapa1	T	C	12: 55,786,212	T169A	probably damaging	Het
Sec31a	T	C	5: 100,392,510	N35S	probably benign	Het
Serpinb5	A	T	1: 106,870,418	T46S	probably benign	Het
Svs2	A	G	2: 164,237,628	S120P	possibly damaging	Het
Tbpl2	T	C	2: 24,094,941	T64A	probably benign	Het
Tecpr2	T	A	12: 110,944,863	H1111Q	possibly damaging	Het
Tmem120b	T	G	5: 123,116,224	V287G	possibly damaging	Het
Tmem150c	T	C	5: 100,083,718	T133A	possibly damaging	Het
Ubqln3	A	T	7: 104,142,310	V191D	probably damaging	Het
Ubr2	T	C	17: 46,973,031	E564G	possibly damaging	Het
Zkscan1	T	C	5: 138,093,305	V100A	probably 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
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'- TGCATAAACACAAGCTGTATGC -3'
(R):5'- CAACCTGTGTTGGATTCCGC -3'

Sequencing Primer
(F):5'- GCTGTATGCACACAACAGCCTG -3'
(R):5'- GTTGGATTCCGCGGGGC -3'

Posted On

2018-11-06