Mutagenetix > Incidental Mutation

Incidental Mutation 'R2176:Tm9sf1'

236903

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf1

Ensembl Gene

ENSMUSG00000002320

Gene Name

transmembrane 9 superfamily member 1

Synonyms

1200014D02Rik, MP70

MMRRC Submission

040178-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R2176 (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 55641409 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 175 (I175M)

Ref Sequence

ENSEMBL: ENSMUSP00000115403 (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: I175M

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320
AA Change: I175M

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: I175M

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320
AA Change: I175M

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: I175M

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320
AA Change: I175M

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: ENSMUST00000121937
AA Change: I175M

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320
AA Change: I175M

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: I175M

PolyPhen 2 Score 0.388 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320
AA Change: I175M

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: I175M

PolyPhen 2 Score 0.729 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320
AA Change: I175M

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: 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

possibly damaging
Transcript: ENSMUST00000149726
AA Change: I175M

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000115403
Gene: ENSMUSG00000002320
AA Change: I175M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000156420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228007

Meta Mutation Damage Score

0.0781

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.6%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	A	G	9: 103,259,367		probably benign	Het
Adam1a	T	A	5: 121,519,586	Y548F	probably benign	Het
Armc9	T	C	1: 86,199,892	L83P	probably damaging	Het
BC051665	A	T	13: 60,784,530		probably benign	Het
Casp3	A	G	8: 46,629,756	N3S	probably damaging	Het
Ccdc174	G	A	6: 91,888,089	M109I	probably benign	Het
Ccr6	T	A	17: 8,256,241	F93I	probably damaging	Het
Clvs2	T	C	10: 33,595,815	S165G	probably damaging	Het
Cntnap5c	T	C	17: 58,013,946	V171A	probably benign	Het
Dennd5a	C	A	7: 109,905,120		probably null	Het
Dock2	T	A	11: 34,695,217	Y546F	probably benign	Het
Fat2	A	G	11: 55,267,575		probably null	Het
Focad	T	A	4: 88,279,244	Y625N	unknown	Het
Fyb	A	G	15: 6,579,954	K3E	probably damaging	Het
Gm14496	G	A	2: 181,991,337	D38N	probably benign	Het
Gm20403	T	C	12: 54,986,370	T54A	probably benign	Het
Gm9830	A	G	9: 44,464,259		noncoding transcript	Het
Hectd1	A	T	12: 51,745,494	S2487R	probably damaging	Het
Il5ra	A	G	6: 106,738,272	L175S	probably benign	Het
Itgav	C	T	2: 83,803,255	R983C	probably damaging	Het
Kcna10	T	C	3: 107,194,716	V221A	probably damaging	Het
Kif13b	G	A	14: 64,669,671	V35I	probably benign	Het
Kif6	G	A	17: 49,755,230	E473K	probably damaging	Het
Mfsd14a	T	C	3: 116,632,393	T452A	probably benign	Het
Mllt1	A	G	17: 56,897,398	S382P	probably benign	Het
Myo15b	T	C	11: 115,866,572	W1083R	probably damaging	Het
Nell2	T	C	15: 95,435,157	I174V	probably damaging	Het
Noct	G	A	3: 51,249,696		probably null	Het
Nvl	A	T	1: 181,135,074		probably benign	Het
Ofcc1	T	C	13: 40,097,119	S574G	probably benign	Het
Olfr1248	A	T	2: 89,617,580	M204K	possibly damaging	Het
Olfr512	G	A	7: 108,714,132	V248I	probably damaging	Het
Olfr749	T	C	14: 50,736,224	M313V	probably benign	Het
Pip5k1a	A	T	3: 95,065,496	S415T	probably damaging	Het
Pkhd1	G	A	1: 20,553,517	P785S	probably damaging	Het
Plcg2	A	G	8: 117,612,994	Y1048C	probably damaging	Het
Ppp3cb	A	T	14: 20,520,652	V337E	probably benign	Het
Prkg2	T	C	5: 98,966,509		probably benign	Het
Prl7a2	T	G	13: 27,659,106	Y238S	probably benign	Het
Psg28	T	A	7: 18,427,879	D233V	probably damaging	Het
Rad50	A	G	11: 53,698,209	C221R	probably benign	Het
Rgl3	A	G	9: 21,975,958		probably benign	Het
Rgsl1	T	A	1: 153,825,268		probably benign	Het
Ror1	C	A	4: 100,441,874	R815S	probably damaging	Het
Rrp1b	C	A	17: 32,056,560	D360E	probably benign	Het
Ryr3	T	C	2: 112,666,335	Q3682R	possibly damaging	Het
Sdr42e1	A	T	8: 117,662,877	F342I	possibly damaging	Het
Setd5	A	G	6: 113,151,153	R1337G	probably benign	Het
Siglecf	T	C	7: 43,351,716	V36A	probably damaging	Het
Slc4a5	G	A	6: 83,262,560	G152D	probably damaging	Het
Sptbn4	T	G	7: 27,364,162	M2280L	probably benign	Het
Syngr2	T	C	11: 117,812,580	I74T	probably damaging	Het
Tmc3	A	G	7: 83,609,308	E502G	probably damaging	Het
Tph1	T	A	7: 46,662,039	D88V	possibly damaging	Het
Tpr	A	G	1: 150,419,940	K979E	possibly damaging	Het
Usp47	A	G	7: 112,092,727	T799A	probably benign	Het
Utf1	A	G	7: 139,944,007	E45G	possibly damaging	Het
Vmn1r208	A	T	13: 22,772,602	C242S	probably damaging	Het
Wrnip1	T	C	13: 32,820,240	I498T	probably damaging	Het
Ypel2	T	A	11: 86,971,873	H18L	probably benign	Het
Zan	T	G	5: 137,421,848	D2849A	unknown	Het
Zfp647	A	T	15: 76,911,660	F267I	probably damaging	Het
Zfp786	G	T	6: 47,820,971	H344Q	possibly damaging	Het
Zswim3	G	T	2: 164,820,694	A365S	probably benign	Het
Zswim5	T	C	4: 116,973,041	W538R	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
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
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'- TGGACAACCAATGGATTTCCAGG -3'
(R):5'- TGTAACCGACTCCTGGCTTG -3'

Sequencing Primer
(F):5'- TTTCCAGGGTTCGAGGAAAG -3'
(R):5'- TCTTTACAGGTGGAGCAGC -3'

Posted On

2014-10-02