Mutagenetix > Incidental Mutation

Incidental Mutation 'R0046:Tsbp1'

15848

Institutional Source

Beutler Lab

Gene Symbol

Tsbp1

Ensembl Gene

ENSMUSG00000057246

Gene Name

testis expressed basic protein 1

Synonyms

BC051142

MMRRC Submission

038340-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.474) question?

Stock #

R0046 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34617794-34679708 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 34679095 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078615] [ENSMUST00000097348] [ENSMUST00000114175]

AlphaFold

A2CG24

Predicted Effect

probably benign
Transcript: ENSMUST00000078615
AA Change: V279A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000077685
Gene: ENSMUSG00000057246
AA Change: V279A

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	144	167	N/A	INTRINSIC
low complexity region	246	272	N/A	INTRINSIC
low complexity region	328	338	N/A	INTRINSIC
low complexity region	364	391	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097348
AA Change: V286A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000094961
Gene: ENSMUSG00000057246
AA Change: V286A

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	151	174	N/A	INTRINSIC
low complexity region	253	279	N/A	INTRINSIC
low complexity region	335	345	N/A	INTRINSIC
low complexity region	371	398	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000114175

SMART Domains

Protein: ENSMUSP00000109812
Gene: ENSMUSG00000057246

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
low complexity region	142	165	N/A	INTRINSIC
SCOP:d1i7qa_	227	277	5e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223765

Meta Mutation Damage Score

0.3803

Coding Region Coverage

1x: 89.2%
3x: 86.2%
10x: 78.3%
20x: 64.0%

Validation Efficiency

98% (86/88)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	A	T	4: 56,743,877 (GRCm39)	K135*	probably null	Het
Adamts16	A	G	13: 70,911,579 (GRCm39)	S871P	probably benign	Het
Adcy10	A	T	1: 165,367,403 (GRCm39)	I558F	probably damaging	Het
Adsl	T	G	15: 80,846,989 (GRCm39)		probably null	Het
Aldob	T	C	4: 49,543,842 (GRCm39)	I47V	possibly damaging	Het
Alkbh8	A	G	9: 3,343,247 (GRCm39)	E46G	probably damaging	Het
Atp1a4	A	T	1: 172,067,664 (GRCm39)	L533Q	probably benign	Het
Auts2	T	C	5: 131,799,624 (GRCm39)		noncoding transcript	Het
B3gnt3	T	C	8: 72,145,567 (GRCm39)	Y267C	probably damaging	Het
Ccdc39	A	G	3: 33,898,301 (GRCm39)	F15L	possibly damaging	Het
Cntnap5c	T	G	17: 58,666,295 (GRCm39)	D1108E	probably benign	Het
Col14a1	G	A	15: 55,272,359 (GRCm39)		probably benign	Het
Col9a3	G	A	2: 180,251,280 (GRCm39)	A317T	possibly damaging	Het
Cpt1c	A	T	7: 44,609,256 (GRCm39)		probably benign	Het
Cpt2	A	G	4: 107,761,559 (GRCm39)		probably null	Het
Crebrf	T	A	17: 26,982,308 (GRCm39)	L565M	probably damaging	Het
Dmxl1	T	A	18: 50,011,149 (GRCm39)	V1102E	probably benign	Het
Dock4	G	A	12: 40,787,359 (GRCm39)		probably benign	Het
Dpp3	G	T	19: 4,964,671 (GRCm39)	N545K	probably damaging	Het
Elmo2	T	A	2: 165,140,646 (GRCm39)	N275I	probably damaging	Het
Farp1	A	G	14: 121,492,925 (GRCm39)	K509R	probably benign	Het
Flg	T	A	3: 93,185,028 (GRCm39)		probably benign	Het
Gas2l2	A	T	11: 83,312,736 (GRCm39)	W859R	probably damaging	Het
Gatm	T	C	2: 122,431,225 (GRCm39)	D254G	probably damaging	Het
Gjd4	T	A	18: 9,280,998 (GRCm39)	I27F	probably damaging	Het
Gm19410	A	G	8: 36,269,799 (GRCm39)	E1148G	probably benign	Het
Haus5	C	T	7: 30,353,605 (GRCm39)	V591I	probably benign	Het
Kcnab3	G	A	11: 69,221,053 (GRCm39)		probably null	Het
Limk1	T	C	5: 134,701,615 (GRCm39)	Y96C	probably damaging	Het
Lrp2bp	T	A	8: 46,466,192 (GRCm39)	Y100*	probably null	Het
Ly75	A	T	2: 60,169,801 (GRCm39)		probably benign	Het
Mamstr	T	G	7: 45,291,194 (GRCm39)		probably benign	Het
Man1a	A	G	10: 53,795,283 (GRCm39)	Y657H	probably damaging	Het
Marf1	G	A	16: 13,929,591 (GRCm39)	P1672S	possibly damaging	Het
Mboat7	T	C	7: 3,686,817 (GRCm39)	Y341C	probably damaging	Het
Nhsl1	A	T	10: 18,401,417 (GRCm39)	N881I	probably damaging	Het
Nox3	T	C	17: 3,733,236 (GRCm39)	Y225C	probably benign	Het
Or4c109	C	T	2: 88,817,693 (GRCm39)	M284I	probably benign	Het
Or4c35	C	T	2: 89,808,851 (GRCm39)	T243I	probably damaging	Het
Pclo	C	T	5: 14,590,493 (GRCm39)	T931M	unknown	Het
Pfas	G	T	11: 68,881,293 (GRCm39)	R1025S	probably benign	Het
Prg4	T	C	1: 150,331,837 (GRCm39)	T279A	possibly damaging	Het
Psma1	A	T	7: 113,866,440 (GRCm39)		probably benign	Het
Rab11fip1	A	G	8: 27,643,149 (GRCm39)	L550P	probably damaging	Het
Rgs12	T	A	5: 35,122,664 (GRCm39)	I149N	probably damaging	Het
Rmnd5a	T	C	6: 71,376,215 (GRCm39)	H195R	probably damaging	Het
Rnf17	T	C	14: 56,708,830 (GRCm39)	L750P	probably damaging	Het
Rtcb	T	C	10: 85,793,520 (GRCm39)	N18D	probably benign	Het
Seh1l	T	C	18: 67,925,086 (GRCm39)		probably null	Het
Sptbn2	T	C	19: 4,795,405 (GRCm39)		probably benign	Het
Stag3	C	T	5: 138,281,285 (GRCm39)		probably benign	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Taok3	C	T	5: 117,410,294 (GRCm39)	Q829*	probably null	Het
Ttn	A	G	2: 76,781,886 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,091,940 (GRCm39)	E1756G	probably damaging	Het
Usp35	A	T	7: 96,962,804 (GRCm39)		probably null	Het
Zbtb40	A	G	4: 136,714,589 (GRCm39)	C1067R	probably damaging	Het

Other mutations in Tsbp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00668:Tsbp1	APN	17	34,639,394 (GRCm39)	unclassified	probably benign
IGL01516:Tsbp1	APN	17	34,668,234 (GRCm39)	missense	possibly damaging	0.90
FR4304:Tsbp1	UTSW	17	34,679,051 (GRCm39)	unclassified	probably benign
FR4304:Tsbp1	UTSW	17	34,679,029 (GRCm39)	unclassified	probably benign
FR4340:Tsbp1	UTSW	17	34,679,051 (GRCm39)	unclassified	probably benign
FR4340:Tsbp1	UTSW	17	34,679,042 (GRCm39)	unclassified	probably benign
FR4340:Tsbp1	UTSW	17	34,679,034 (GRCm39)	nonsense	probably null
FR4548:Tsbp1	UTSW	17	34,679,039 (GRCm39)	unclassified	probably benign
FR4589:Tsbp1	UTSW	17	34,679,047 (GRCm39)	unclassified	probably benign
FR4589:Tsbp1	UTSW	17	34,679,027 (GRCm39)	unclassified	probably benign
FR4737:Tsbp1	UTSW	17	34,679,042 (GRCm39)	unclassified	probably benign
FR4737:Tsbp1	UTSW	17	34,679,025 (GRCm39)	unclassified	probably benign
FR4976:Tsbp1	UTSW	17	34,679,035 (GRCm39)	unclassified	probably benign
FR4976:Tsbp1	UTSW	17	34,679,032 (GRCm39)	unclassified	probably benign
R0046:Tsbp1	UTSW	17	34,679,095 (GRCm39)	critical splice donor site	probably null
R0523:Tsbp1	UTSW	17	34,664,473 (GRCm39)	critical splice donor site	probably null
R0661:Tsbp1	UTSW	17	34,678,887 (GRCm39)	missense	possibly damaging	0.90
R2224:Tsbp1	UTSW	17	34,667,737 (GRCm39)	splice site	probably null
R2937:Tsbp1	UTSW	17	34,640,836 (GRCm39)	missense	possibly damaging	0.92
R3932:Tsbp1	UTSW	17	34,662,417 (GRCm39)	missense	possibly damaging	0.94
R4210:Tsbp1	UTSW	17	34,679,257 (GRCm39)	unclassified	probably benign
R4924:Tsbp1	UTSW	17	34,678,951 (GRCm39)	missense	probably damaging	0.96
R5055:Tsbp1	UTSW	17	34,667,770 (GRCm39)	missense	possibly damaging	0.83
R5446:Tsbp1	UTSW	17	34,659,867 (GRCm39)	splice site	probably null
R6147:Tsbp1	UTSW	17	34,637,897 (GRCm39)	missense	possibly damaging	0.95
R6851:Tsbp1	UTSW	17	34,679,146 (GRCm39)	missense	possibly damaging	0.66
R6866:Tsbp1	UTSW	17	34,678,935 (GRCm39)	missense	possibly damaging	0.66
R7035:Tsbp1	UTSW	17	34,679,305 (GRCm39)	unclassified	probably benign
R7077:Tsbp1	UTSW	17	34,659,856 (GRCm39)	missense	possibly damaging	0.82
R7468:Tsbp1	UTSW	17	34,636,539 (GRCm39)	splice site	probably null
R7556:Tsbp1	UTSW	17	34,656,691 (GRCm39)	missense	unknown
R7843:Tsbp1	UTSW	17	34,668,798 (GRCm39)	missense	possibly damaging	0.92
R8503:Tsbp1	UTSW	17	34,667,100 (GRCm39)	splice site	probably benign
R8529:Tsbp1	UTSW	17	34,679,143 (GRCm39)	missense	possibly damaging	0.83
R8683:Tsbp1	UTSW	17	34,667,782 (GRCm39)	missense	possibly damaging	0.46
R8931:Tsbp1	UTSW	17	34,659,328 (GRCm39)	splice site	probably benign
R8941:Tsbp1	UTSW	17	34,678,973 (GRCm39)	missense	possibly damaging	0.66
R9222:Tsbp1	UTSW	17	34,648,922 (GRCm39)	missense
R9560:Tsbp1	UTSW	17	34,663,016 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-01-08