Mutagenetix > Incidental Mutation

Incidental Mutation 'R5561:Tm9sf1'

436625

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf1

Ensembl Gene

ENSMUSG00000002320

Gene Name

transmembrane 9 superfamily member 1

Synonyms

1200014D02Rik, MP70

MMRRC Submission

043118-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R5561 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55635965-55643806 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55638097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 397 (V397M)

Ref Sequence

ENSEMBL: ENSMUSP00000118427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002391] [ENSMUST00000047131] [ENSMUST00000120041] [ENSMUST00000121791] [ENSMUST00000121937] [ENSMUST00000122358] [ENSMUST00000125133] [ENSMUST00000132338] [ENSMUST00000133707] [ENSMUST00000135221] [ENSMUST00000138085] [ENSMUST00000148351] [ENSMUST00000149726]

AlphaFold

Q9DBU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000002391
AA Change: V397M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320
AA Change: V397M

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	564	1.3e-187	PFAM
transmembrane domain	569	591	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047131

SMART Domains

Protein: ENSMUSP00000036555
Gene: ENSMUSG00000002319

Domain	Start	End	E-Value	Type
IBN_N	24	90	4.4e-7	SMART
Blast:IBN_N	101	170	4e-20	BLAST
Blast:IBN_N	224	293	4e-31	BLAST
low complexity region	307	321	N/A	INTRINSIC
Pfam:HEAT	395	425	7.7e-7	PFAM
Blast:ARM	465	499	8e-13	BLAST
low complexity region	500	511	N/A	INTRINSIC
low complexity region	636	660	N/A	INTRINSIC
low complexity region	733	743	N/A	INTRINSIC
low complexity region	811	830	N/A	INTRINSIC
low complexity region	851	864	N/A	INTRINSIC
Pfam:HEAT	901	931	1.9e-5	PFAM
Pfam:HEAT_EZ	914	969	2.3e-9	PFAM
low complexity region	1043	1053	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120041
AA Change: V397M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320
AA Change: V397M

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	564	1.3e-187	PFAM
transmembrane domain	569	591	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121791
AA Change: V397M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320
AA Change: V397M

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	564	1.3e-187	PFAM
transmembrane domain	569	591	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121937
AA Change: V397M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320
AA Change: V397M

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	547	9e-169	PFAM
transmembrane domain	550	572	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122358
AA Change: V397M

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320
AA Change: V397M

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	58	563	2.3e-164	PFAM
transmembrane domain	569	591	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125133

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130167

Predicted Effect

probably damaging
Transcript: ENSMUST00000132338
AA Change: V397M

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

SMART Domains

Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320
AA Change: V397M

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	477	9.2e-142	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133707

SMART Domains

Protein: ENSMUSP00000123471
Gene: ENSMUSG00000002320

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	118	1e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000135221

SMART Domains

Protein: ENSMUSP00000123692
Gene: ENSMUSG00000002319

Domain	Start	End	E-Value	Type
IBN_N	24	90	4.4e-7	SMART
Blast:IBN_N	101	170	3e-20	BLAST
Blast:IBN_N	224	293	2e-31	BLAST
low complexity region	307	321	N/A	INTRINSIC
Pfam:HEAT	395	425	7.4e-7	PFAM
Blast:ARM	465	499	7e-13	BLAST
low complexity region	500	511	N/A	INTRINSIC
low complexity region	636	660	N/A	INTRINSIC
low complexity region	733	743	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138085

SMART Domains

Protein: ENSMUSP00000119435
Gene: ENSMUSG00000002320

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	172	2.9e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146588

Predicted Effect

probably benign
Transcript: ENSMUST00000156420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150951

Predicted Effect

probably benign
Transcript: ENSMUST00000148351

SMART Domains

Protein: ENSMUSP00000117543
Gene: ENSMUSG00000002319

Domain	Start	End	E-Value	Type
IBN_N	24	90	4.4e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000149726

SMART Domains

Protein: ENSMUSP00000115403
Gene: ENSMUSG00000002320

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
Pfam:EMP70	57	390	1.7e-103	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	C	A	14: 95,882,371	A188E	probably benign	Het
A630095N17Rik	T	C	1: 75,220,537		probably benign	Het
Acyp2	C	T	11: 30,506,354	E98K	possibly damaging	Het
Adgrv1	A	G	13: 81,476,564	L3762P	probably damaging	Het
Amn1	G	A	6: 149,185,024	R4W	probably damaging	Het
Atxn1	G	T	13: 45,566,871	T516N	possibly damaging	Het
Atxn7	A	T	14: 14,089,260	T259S	probably benign	Het
Bsn	C	G	9: 108,105,511	R3681P	unknown	Het
C8b	T	C	4: 104,784,448	Y194H	possibly damaging	Het
Ccdc110	T	G	8: 45,940,609	S119R	probably benign	Het
Ceacam20	A	T	7: 19,970,393	Q123L	possibly damaging	Het
Clip3	A	G	7: 30,298,849	D240G	possibly damaging	Het
Col24a1	T	C	3: 145,298,827	F22S	probably benign	Het
Dlg5	T	A	14: 24,177,792	M354L	probably benign	Het
Dnajb12	GC	G	10: 59,892,752		probably null	Het
Dnase1l3	A	G	14: 7,967,847	V282A	probably damaging	Het
Dnhd1	G	A	7: 105,714,821	G4127S	probably damaging	Het
Eed	G	A	7: 89,967,793	R165W	probably damaging	Het
Ephb2	C	T	4: 136,661,406	V627M	probably damaging	Het
Fancc	T	C	13: 63,317,387	E502G	possibly damaging	Het
Fbf1	T	C	11: 116,157,820	D105G	probably damaging	Het
Fer	T	A	17: 64,037,585	Y246*	probably null	Het
Fer1l6	A	G	15: 58,660,825	K1792E	probably damaging	Het
Foxi2	A	G	7: 135,411,647	D202G	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
H2-DMb2	G	T	17: 34,145,471		probably null	Het
Helq	G	T	5: 100,787,050	D491E	probably benign	Het
Hgsnat	A	G	8: 25,946,334	V564A	possibly damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hs3st5	T	A	10: 36,833,429	V320D	probably damaging	Het
Ifit1bl1	A	T	19: 34,593,797	L420*	probably null	Het
Ift80	T	G	3: 68,967,863	N178T	probably benign	Het
Ing4	C	T	6: 125,047,060	T89I	possibly damaging	Het
Lcp1	G	A	14: 75,212,508	D386N	probably benign	Het
Mdc1	T	A	17: 35,848,546	I606K	probably benign	Het
Mllt10	T	A	2: 18,109,845	M120K	probably damaging	Het
Morc1	G	T	16: 48,449,348	L89F	probably benign	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Nav3	C	A	10: 109,716,552	D1810Y	probably damaging	Het
Obscn	G	A	11: 59,036,093	T5532M	probably damaging	Het
Olfr527	C	T	7: 140,336,152	Q97*	probably null	Het
Olfr716	A	G	7: 107,148,090	N258S	probably benign	Het
Opn3	C	T	1: 175,665,587	R137H	probably damaging	Het
Palld	G	A	8: 61,516,585	A993V	probably damaging	Het
Ppp1r12c	A	T	7: 4,486,356		probably null	Het
Prdm4	TCTCCTCCT	TCTCCT	10: 85,893,123		probably null	Het
Rapgef2	A	T	3: 79,088,643		probably null	Het
Ring1	T	C	17: 34,021,458	E382G	possibly damaging	Het
Rpl22l1	T	A	3: 28,806,820	N61K	probably benign	Het
Rpp14	A	G	14: 8,090,558		probably null	Het
Rusc2	C	T	4: 43,415,932	Q413*	probably null	Het
Slco3a1	A	G	7: 74,318,499	I491T	possibly damaging	Het
Smtnl1	C	T	2: 84,818,395	V172I	probably benign	Het
Spats2l	T	A	1: 57,900,621		probably null	Het
Spire1	T	A	18: 67,506,646	N266Y	probably damaging	Het
Stox2	T	C	8: 47,193,006	H473R	probably damaging	Het
Syne2	C	T	12: 76,094,458	R121*	probably null	Het
Synrg	G	A	11: 84,002,240		probably null	Het
Trabd	T	C	15: 89,081,984	M48T	probably benign	Het
Ttn	T	A	2: 76,707,233	I26457F	possibly damaging	Het
Uggt2	C	T	14: 119,041,527	R856Q	probably benign	Het
Ugt1a5	T	A	1: 88,166,317	M89K	probably benign	Het
Vmn2r53	A	T	7: 12,601,420	S104R	probably damaging	Het
Zdhhc12	A	T	2: 30,092,484	L53Q	probably null	Het

Other mutations in Tm9sf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Tm9sf1	APN	14	55642727	missense	probably damaging	1.00
IGL01102:Tm9sf1	APN	14	55642767	missense	probably damaging	1.00
IGL02263:Tm9sf1	APN	14	55642935	missense	possibly damaging	0.95
R0242:Tm9sf1	UTSW	14	55637935	missense	possibly damaging	0.90
R0242:Tm9sf1	UTSW	14	55637935	missense	possibly damaging	0.90
R0469:Tm9sf1	UTSW	14	55641429	missense	possibly damaging	0.87
R0928:Tm9sf1	UTSW	14	55636457	missense	probably damaging	1.00
R0973:Tm9sf1	UTSW	14	55642935	missense	possibly damaging	0.95
R0973:Tm9sf1	UTSW	14	55642935	missense	possibly damaging	0.95
R0974:Tm9sf1	UTSW	14	55642935	missense	possibly damaging	0.95
R1441:Tm9sf1	UTSW	14	55636325	missense	probably damaging	1.00
R1644:Tm9sf1	UTSW	14	55641300	missense	probably benign	0.03
R1873:Tm9sf1	UTSW	14	55636223	missense	probably damaging	1.00
R2176:Tm9sf1	UTSW	14	55641409	missense	possibly damaging	0.89
R2973:Tm9sf1	UTSW	14	55641114	missense	probably benign	0.01
R4284:Tm9sf1	UTSW	14	55641323	missense	probably damaging	1.00
R4545:Tm9sf1	UTSW	14	55638108	missense	possibly damaging	0.74
R4633:Tm9sf1	UTSW	14	55641203	missense	probably damaging	1.00
R4816:Tm9sf1	UTSW	14	55641149	missense	possibly damaging	0.89
R4943:Tm9sf1	UTSW	14	55641168	missense	probably damaging	0.99
R5270:Tm9sf1	UTSW	14	55636481	missense	probably damaging	1.00
R5384:Tm9sf1	UTSW	14	55642844	missense	possibly damaging	0.80
R5385:Tm9sf1	UTSW	14	55642844	missense	possibly damaging	0.80
R5386:Tm9sf1	UTSW	14	55642844	missense	possibly damaging	0.80
R6246:Tm9sf1	UTSW	14	55636370	missense	probably damaging	1.00
R6247:Tm9sf1	UTSW	14	55636370	missense	probably damaging	1.00
R6248:Tm9sf1	UTSW	14	55636370	missense	probably damaging	1.00
R7319:Tm9sf1	UTSW	14	55637975	unclassified	probably benign
R7659:Tm9sf1	UTSW	14	55636335	missense	probably damaging	1.00
R7974:Tm9sf1	UTSW	14	55636449	missense	probably damaging	1.00
R9130:Tm9sf1	UTSW	14	55638007	missense	probably damaging	1.00
X0025:Tm9sf1	UTSW	14	55642836	missense	probably benign	0.43
X0026:Tm9sf1	UTSW	14	55642937	start codon destroyed	probably null	0.92

Predicted Primers

PCR Primer
(F):5'- AAGCCACCAACAGTCATGTGG -3'
(R):5'- GATTCAATCAGCTCTGGCCATC -3'

Sequencing Primer
(F):5'- CATGTGGATGACAGTAGACTTGTACC -3'
(R):5'- AATCAGCTCTGGCCATCTGGAAG -3'

Posted On

2016-10-24