Mutagenetix > Incidental Mutation

Incidental Mutation 'R7974:Tm9sf1'

650798

Institutional Source

Beutler Lab

Gene Symbol

Tm9sf1

Ensembl Gene

ENSMUSG00000002320

Gene Name

transmembrane 9 superfamily member 1

Synonyms

MP70, 1200014D02Rik

MMRRC Submission

046017-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R7974 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55873422-55881263 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55873906 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 531 (W531R)

Ref Sequence

ENSEMBL: ENSMUSP00000002391 (fasta)

Gene Model

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

AlphaFold

Q9DBU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000002391
AA Change: W531R

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

SMART Domains

Protein: ENSMUSP00000002391
Gene: ENSMUSG00000002320
AA Change: W531R

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: W531R

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

SMART Domains

Protein: ENSMUSP00000112893
Gene: ENSMUSG00000002320
AA Change: W531R

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: W531R

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

SMART Domains

Protein: ENSMUSP00000112764
Gene: ENSMUSG00000002320
AA Change: W531R

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: W514R

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

SMART Domains

Protein: ENSMUSP00000113143
Gene: ENSMUSG00000002320
AA Change: W514R

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: W531R

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

SMART Domains

Protein: ENSMUSP00000113782
Gene: ENSMUSG00000002320
AA Change: W531R

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

probably benign
Transcript: ENSMUST00000132338

SMART Domains

Protein: ENSMUSP00000118427
Gene: ENSMUSG00000002320

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: 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

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000156420
AA Change: W67R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,033,405 (GRCm39)		probably null	Het
Adamts19	A	T	18: 59,144,094 (GRCm39)	Q892L	possibly damaging	Het
Adamts9	A	G	6: 92,886,668 (GRCm39)		probably null	Het
Aftph	T	C	11: 20,648,233 (GRCm39)	*686W	probably null	Het
AI661453	T	C	17: 47,777,006 (GRCm39)	L244P	unknown	Het
Ankar	C	A	1: 72,738,138 (GRCm39)	E15*	probably null	Het
Ankrd39	A	G	1: 36,585,999 (GRCm39)		probably benign	Het
Arsi	A	G	18: 61,045,478 (GRCm39)	D56G	probably damaging	Het
Blmh	T	C	11: 76,856,729 (GRCm39)	I245T	possibly damaging	Het
Ccr6	T	C	17: 8,475,056 (GRCm39)	F87S	probably damaging	Het
Cdc42ep2	T	C	19: 5,968,523 (GRCm39)	K61E	probably damaging	Het
Celsr1	C	T	15: 85,915,231 (GRCm39)	G914D	probably damaging	Het
Cep126	T	A	9: 8,120,764 (GRCm39)	K86N	probably benign	Het
Cfap70	A	T	14: 20,470,818 (GRCm39)	F532I	probably damaging	Het
Cpsf3	T	A	12: 21,358,006 (GRCm39)	L506Q	probably damaging	Het
Dct	A	C	14: 118,277,067 (GRCm39)	I273S	probably damaging	Het
Dsel	T	C	1: 111,788,229 (GRCm39)	I769V	probably benign	Het
Dus2	G	A	8: 106,762,652 (GRCm39)	E138K	probably benign	Het
Emsy	A	G	7: 98,279,425 (GRCm39)	S305P	possibly damaging	Het
Erp27	A	T	6: 136,885,063 (GRCm39)	V245D	probably damaging	Het
Fez1	C	A	9: 36,755,244 (GRCm39)	T81K	probably damaging	Het
Gli3	A	C	13: 15,900,841 (GRCm39)	Q1409H	probably benign	Het
Hdac9	T	C	12: 34,353,219 (GRCm39)	S664G	possibly damaging	Het
Hibadh	A	G	6: 52,534,880 (GRCm39)	S167P	probably benign	Het
Hsdl1	A	G	8: 120,293,072 (GRCm39)	V121A	probably benign	Het
Ift70a1	T	C	2: 75,810,688 (GRCm39)	H465R	probably damaging	Het
Ighv1-18	A	C	12: 114,646,669 (GRCm39)	I6S	possibly damaging	Het
Iqcm	T	A	8: 76,281,520 (GRCm39)	M1K	probably null	Het
Itch	T	C	2: 155,034,079 (GRCm39)	F417S	probably damaging	Het
Itpr1	C	T	6: 108,500,366 (GRCm39)	T2653I	possibly damaging	Het
Kank1	T	G	19: 25,401,584 (GRCm39)	Y1064D	probably damaging	Het
Kmt2c	T	C	5: 25,505,561 (GRCm39)	Q3249R	probably damaging	Het
Lefty1	T	C	1: 180,765,385 (GRCm39)	C318R	probably damaging	Het
Lmbr1l	C	T	15: 98,809,500 (GRCm39)	V147I	probably benign	Het
Meig1	C	A	2: 3,412,911 (GRCm39)	E37*	probably null	Het
Mpp3	A	G	11: 101,899,180 (GRCm39)		probably null	Het
Muc17	T	C	5: 137,175,664 (GRCm39)	N2S		Het
Mup7	T	C	4: 60,067,518 (GRCm39)	E199G	possibly damaging	Het
Nol4	G	C	18: 22,852,082 (GRCm39)	Y275*	probably null	Het
Nrxn1	G	A	17: 91,008,207 (GRCm39)	P429S	probably damaging	Het
Or14j8	T	C	17: 38,263,672 (GRCm39)	Y81C	probably damaging	Het
Pfkl	A	T	10: 77,829,996 (GRCm39)	F367L	probably damaging	Het
Pik3cg	T	C	12: 32,254,031 (GRCm39)	E652G	probably benign	Het
Prkag3	A	G	1: 74,783,980 (GRCm39)	I301T	probably benign	Het
Rcn1	G	A	2: 105,224,055 (GRCm39)	P163L	probably benign	Het
Slc1a7	G	A	4: 107,869,473 (GRCm39)	V513M	probably benign	Het
Slc37a2	A	T	9: 37,150,421 (GRCm39)		probably null	Het
Slc9b1	C	T	3: 135,099,791 (GRCm39)	T437I	possibly damaging	Het
Smap1	T	G	1: 23,888,522 (GRCm39)	T248P	probably benign	Het
Smpd3	A	C	8: 106,982,254 (GRCm39)	C617G	probably benign	Het
Spata20	T	C	11: 94,374,966 (GRCm39)	N212S	possibly damaging	Het
Sphkap	A	C	1: 83,256,683 (GRCm39)	C355W	probably damaging	Het
Spopfm2	T	C	3: 94,082,848 (GRCm39)	K321R	probably benign	Het
Spsb1	T	A	4: 149,991,566 (GRCm39)	M1L	probably damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Stxbp5	A	C	10: 9,646,439 (GRCm39)		probably null	Het
Taar5	G	C	10: 23,847,120 (GRCm39)	D173H	possibly damaging	Het
Tfrc	A	G	16: 32,440,101 (GRCm39)	D438G	probably null	Het
Tinag	A	T	9: 76,907,131 (GRCm39)	I368K	probably benign	Het
Tnc	G	T	4: 63,918,961 (GRCm39)	P1154Q	possibly damaging	Het
Toporsl	A	G	4: 52,611,645 (GRCm39)	R513G	probably damaging	Het
Vat1	A	G	11: 101,356,956 (GRCm39)	S2P	probably benign	Het
Vmn2r107	C	G	17: 20,577,270 (GRCm39)	P423A	probably benign	Het
Vmn2r2	T	A	3: 64,024,808 (GRCm39)	E591V	probably damaging	Het
Vmn2r62	T	A	7: 42,437,281 (GRCm39)	Y401F	probably damaging	Het
Vmn2r62	G	A	7: 42,414,031 (GRCm39)	T804I	probably damaging	Het
Vmn2r89	A	T	14: 51,693,459 (GRCm39)	I270F	probably damaging	Het
Zfp418	T	C	7: 7,185,167 (GRCm39)	F377L	possibly damaging	Het
Zkscan5	T	C	5: 145,144,502 (GRCm39)	S182P	unknown	Het

Other mutations in Tm9sf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Tm9sf1	APN	14	55,880,184 (GRCm39)	missense	probably damaging	1.00
IGL01102:Tm9sf1	APN	14	55,880,224 (GRCm39)	missense	probably damaging	1.00
IGL02263:Tm9sf1	APN	14	55,880,392 (GRCm39)	missense	possibly damaging	0.95
R0242:Tm9sf1	UTSW	14	55,875,392 (GRCm39)	missense	possibly damaging	0.90
R0242:Tm9sf1	UTSW	14	55,875,392 (GRCm39)	missense	possibly damaging	0.90
R0469:Tm9sf1	UTSW	14	55,878,886 (GRCm39)	missense	possibly damaging	0.87
R0928:Tm9sf1	UTSW	14	55,873,914 (GRCm39)	missense	probably damaging	1.00
R0973:Tm9sf1	UTSW	14	55,880,392 (GRCm39)	missense	possibly damaging	0.95
R0973:Tm9sf1	UTSW	14	55,880,392 (GRCm39)	missense	possibly damaging	0.95
R0974:Tm9sf1	UTSW	14	55,880,392 (GRCm39)	missense	possibly damaging	0.95
R1441:Tm9sf1	UTSW	14	55,873,782 (GRCm39)	missense	probably damaging	1.00
R1644:Tm9sf1	UTSW	14	55,878,757 (GRCm39)	missense	probably benign	0.03
R1873:Tm9sf1	UTSW	14	55,873,680 (GRCm39)	missense	probably damaging	1.00
R2176:Tm9sf1	UTSW	14	55,878,866 (GRCm39)	missense	possibly damaging	0.89
R2973:Tm9sf1	UTSW	14	55,878,571 (GRCm39)	missense	probably benign	0.01
R4284:Tm9sf1	UTSW	14	55,878,780 (GRCm39)	missense	probably damaging	1.00
R4545:Tm9sf1	UTSW	14	55,875,565 (GRCm39)	missense	possibly damaging	0.74
R4633:Tm9sf1	UTSW	14	55,878,660 (GRCm39)	missense	probably damaging	1.00
R4816:Tm9sf1	UTSW	14	55,878,606 (GRCm39)	missense	possibly damaging	0.89
R4943:Tm9sf1	UTSW	14	55,878,625 (GRCm39)	missense	probably damaging	0.99
R5270:Tm9sf1	UTSW	14	55,873,938 (GRCm39)	missense	probably damaging	1.00
R5384:Tm9sf1	UTSW	14	55,880,301 (GRCm39)	missense	possibly damaging	0.80
R5385:Tm9sf1	UTSW	14	55,880,301 (GRCm39)	missense	possibly damaging	0.80
R5386:Tm9sf1	UTSW	14	55,880,301 (GRCm39)	missense	possibly damaging	0.80
R5561:Tm9sf1	UTSW	14	55,875,554 (GRCm39)	missense	probably damaging	1.00
R6246:Tm9sf1	UTSW	14	55,873,827 (GRCm39)	missense	probably damaging	1.00
R6247:Tm9sf1	UTSW	14	55,873,827 (GRCm39)	missense	probably damaging	1.00
R6248:Tm9sf1	UTSW	14	55,873,827 (GRCm39)	missense	probably damaging	1.00
R7319:Tm9sf1	UTSW	14	55,875,432 (GRCm39)	unclassified	probably benign
R7659:Tm9sf1	UTSW	14	55,873,792 (GRCm39)	missense	probably damaging	1.00
R9130:Tm9sf1	UTSW	14	55,875,464 (GRCm39)	missense	probably damaging	1.00
X0025:Tm9sf1	UTSW	14	55,880,293 (GRCm39)	missense	probably benign	0.43
X0026:Tm9sf1	UTSW	14	55,880,394 (GRCm39)	start codon destroyed	probably null	0.92

Predicted Primers

PCR Primer
(F):5'- AGGAGATGGTACCCAGCATG -3'
(R):5'- AGCTCTCTTGATCGCCACAG -3'

Sequencing Primer
(F):5'- TGGTACCCAGCATGAGGAAG -3'
(R):5'- TGCTGTGGCTATGAACAGAGC -3'

Posted On

2020-09-15