Mutagenetix > Incidental Mutation

Incidental Mutation 'R0973:Tm9sf1'

82973

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf1

Ensembl Gene

ENSMUSG00000002320

Gene Name

transmembrane 9 superfamily member 1

Synonyms

1200014D02Rik, MP70

MMRRC Submission

039102-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R0973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55635965-55643806 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55642935 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 2 (T2A)

Ref Sequence

ENSEMBL: ENSMUSP00000119435 (fasta)

Gene Model

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

AlphaFold

Q9DBU0

Predicted Effect

probably benign
Transcript: ENSMUST00000002391
AA Change: T2A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320
AA Change: T2A

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: ENSMUST00000120041
AA Change: T2A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320
AA Change: T2A

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: ENSMUST00000121791
AA Change: T2A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320
AA Change: T2A

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

possibly damaging
Transcript: ENSMUST00000121937
AA Change: T2A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320
AA Change: T2A

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 benign
Transcript: ENSMUST00000122358
AA Change: T2A

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320
AA Change: T2A

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

noncoding transcript
Transcript: ENSMUST00000127473

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130167

Predicted Effect

possibly damaging
Transcript: ENSMUST00000132338
AA Change: T2A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320
AA Change: T2A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133707
AA Change: T2A

PolyPhen 2 Score 0.745 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123471
Gene: ENSMUSG00000002320
AA Change: T2A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000138085
AA Change: T2A

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119435
Gene: ENSMUSG00000002320
AA Change: T2A

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

possibly damaging
Transcript: ENSMUST00000149726
AA Change: T2A

PolyPhen 2 Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000115403
Gene: ENSMUSG00000002320
AA Change: T2A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228007

Meta Mutation Damage Score

0.0807

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (70/72)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	T	A	18: 70,467,926		probably null	Het
5430419D17Rik	T	C	7: 131,238,182	L611P	probably damaging	Het
Adam18	T	C	8: 24,647,853	T324A	probably benign	Het
AI429214	A	G	8: 36,994,319	Q207R	probably benign	Het
Asic5	C	T	3: 82,008,448		probably benign	Het
Atp13a1	T	C	8: 69,802,144		probably null	Het
Atp6v0a1	T	A	11: 101,055,491	L770*	probably null	Het
B3gnt5	T	A	16: 19,770,010	D326E	probably damaging	Het
Btbd9	T	A	17: 30,299,633	D451V	probably damaging	Het
Cd46	T	C	1: 195,041,992	*366W	probably null	Het
Cenpc1	A	T	5: 86,037,908	V248E	probably damaging	Het
Cep152	A	G	2: 125,594,899	S574P	probably benign	Het
Cep250	A	G	2: 155,964,289		probably benign	Het
Chd2	A	G	7: 73,478,664	S858P	probably damaging	Het
Cxcl1	A	T	5: 90,891,767	K85*	probably null	Het
Daam1	A	C	12: 71,915,784	K90T	unknown	Het
Diexf	A	T	1: 193,114,703	N573K	probably damaging	Het
Dip2c	G	A	13: 9,576,908	A632T	probably damaging	Het
Dmtf1	T	A	5: 9,127,987	I391F	possibly damaging	Het
Dnah14	T	C	1: 181,752,145	V3081A	probably damaging	Het
Dnah9	A	T	11: 66,005,837		probably null	Het
Efemp1	A	G	11: 28,854,538	E22G	probably damaging	Het
Ephb6	A	G	6: 41,614,104	D65G	probably damaging	Het
Flt4	C	T	11: 49,636,339		probably benign	Het
Fsip2	A	T	2: 82,977,092	T1252S	probably benign	Het
Gm12500	T	C	3: 108,086,476		probably null	Het
Gm6327	T	C	16: 12,761,113		noncoding transcript	Het
Golga4	T	C	9: 118,537,273	I365T	probably damaging	Het
Gp2	A	T	7: 119,454,543	L65Q	probably damaging	Het
Ice1	C	A	13: 70,602,427	V1847L	probably benign	Het
Ift172	T	C	5: 31,257,918		probably benign	Het
Kbtbd7	A	G	14: 79,427,430	E234G	possibly damaging	Het
Khsrp	T	C	17: 57,025,576	T235A	probably benign	Het
Klk13	T	C	7: 43,721,158		probably null	Het
Lgals8	A	T	13: 12,451,395		probably benign	Het
Lrfn5	G	A	12: 61,843,437	G504D	probably damaging	Het
Map6	G	A	7: 99,336,743	G821D	possibly damaging	Het
Mcpt8	T	C	14: 56,083,800		probably benign	Het
Myh13	T	A	11: 67,332,520	I222N	probably damaging	Het
Myh7b	G	A	2: 155,620,427	C350Y	probably benign	Het
Naa25	T	C	5: 121,438,716		probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Olfm3	C	A	3: 115,101,986	S172R	probably benign	Het
Olfr1168	A	T	2: 88,184,978	T34S	probably benign	Het
Olfr1231	A	T	2: 89,303,184	I136N	probably damaging	Het
Olfr342	A	G	2: 36,528,008	I199V	probably benign	Het
Olfr70	A	G	4: 43,696,706	S156P	probably damaging	Het
Pacs1	A	T	19: 5,143,829	D557E	probably damaging	Het
Phactr2	T	C	10: 13,247,139	D343G	possibly damaging	Het
Pkd2l2	A	G	18: 34,428,252	T438A	probably damaging	Het
Pld2	T	C	11: 70,557,081	W857R	probably damaging	Het
Pm20d2	T	A	4: 33,174,734		probably benign	Het
Rilpl1	A	G	5: 124,501,871	S156P	probably benign	Het
Rilpl1	A	G	5: 124,501,888	I122T	possibly damaging	Het
Rims4	C	T	2: 163,863,929	V262M	possibly damaging	Het
Saxo2	A	G	7: 82,634,870	V260A	probably benign	Het
Skint1	T	G	4: 112,028,215		probably benign	Het
Slc33a1	A	G	3: 63,943,304	F533S	probably benign	Het
Slc38a4	C	T	15: 97,005,858	V421M	probably benign	Het
Snx14	A	G	9: 88,400,721		probably null	Het
Spag7	A	G	11: 70,669,182		probably benign	Het
Sri	A	T	5: 8,059,381	Q55L	probably damaging	Het
Tmco5	A	G	2: 116,883,218	T122A	probably benign	Het
Tmem59l	G	A	8: 70,486,060	P124S	possibly damaging	Het
Trpv6	T	A	6: 41,625,188	T396S	probably benign	Het
Usp24	T	A	4: 106,371,079	Y780*	probably null	Het
Usp24	A	G	4: 106,413,678		probably null	Het
Vmn2r53	A	G	7: 12,601,392	F114L	probably damaging	Het
Zfp626	G	A	7: 27,818,482	R296H	probably damaging	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
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
R5561:Tm9sf1	UTSW	14	55638097	missense	probably damaging	1.00
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'- TTCTCAGGACAGCAGACTGGAAGC -3'
(R):5'- CGTTGCTATAGAAACGGGTTGGCAC -3'

Sequencing Primer
(F):5'- AAGCTGATAGTAGTGGTAAGTTTCC -3'
(R):5'- GGCCTAGAGGCGTGAAC -3'

Posted On

2013-11-08