Mutagenetix > Incidental Mutation

Incidental Mutation 'R7843:Tsbp1'

606477

Institutional Source

Beutler Lab

Gene Symbol

Tsbp1

Ensembl Gene

ENSMUSG00000057246

Gene Name

testis expressed basic protein 1

Synonyms

BC051142

MMRRC Submission

045897-MU

Accession Numbers

Essential gene?

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

Stock #

R7843 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34617794-34679708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34668798 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 176 (T176I)

Ref Sequence

ENSEMBL: ENSMUSP00000109812 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078615] [ENSMUST00000097348] [ENSMUST00000114175] [ENSMUST00000139063] [ENSMUST00000223957]

AlphaFold

A2CG24

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078615
AA Change: T178I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000077685
Gene: ENSMUSG00000057246
AA Change: T178I

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

possibly damaging
Transcript: ENSMUST00000097348
AA Change: T185I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000094961
Gene: ENSMUSG00000057246
AA Change: T185I

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

possibly damaging
Transcript: ENSMUST00000114175
AA Change: T176I

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109812
Gene: ENSMUSG00000057246
AA Change: T176I

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: ENSMUST00000139063

SMART Domains

Protein: ENSMUSP00000121839
Gene: ENSMUSG00000057246

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000223957

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf1	T	C	17: 36,270,135 (GRCm39)	D641G	possibly damaging	Het
Adam1b	A	T	5: 121,639,500 (GRCm39)	I515N	probably damaging	Het
Adamtsl5	A	G	10: 80,178,757 (GRCm39)	V207A	probably damaging	Het
Ampd3	A	G	7: 110,390,395 (GRCm39)	I143V	probably benign	Het
Ank3	A	T	10: 69,822,788 (GRCm39)	T486S	probably benign	Het
Bcl11a	A	G	11: 24,114,831 (GRCm39)	I725V	probably benign	Het
Blmh	A	G	11: 76,837,139 (GRCm39)	N29D	probably damaging	Het
C6	T	A	15: 4,837,886 (GRCm39)	V832D		Het
Ccdc191	T	A	16: 43,779,699 (GRCm39)	L777M	probably damaging	Het
Ccdc74a	C	G	16: 17,464,613 (GRCm39)	H45Q		Het
Cenpe	T	A	3: 134,938,720 (GRCm39)	Y517*	probably null	Het
Cep290	G	T	10: 100,352,050 (GRCm39)	R752L	possibly damaging	Het
Cers5	A	T	15: 99,670,212 (GRCm39)	W17R	unknown	Het
Chpf	T	C	1: 75,454,931 (GRCm39)		probably benign	Het
Chst5	C	A	8: 112,617,204 (GRCm39)	A139S	probably benign	Het
Cpn1	T	A	19: 43,974,597 (GRCm39)	D44V	probably benign	Het
Cstf1	T	C	2: 172,219,920 (GRCm39)	Y344H	probably damaging	Het
D7Ertd443e	A	C	7: 133,950,824 (GRCm39)	M283R	possibly damaging	Het
Dclk1	T	A	3: 55,163,298 (GRCm39)	V130D	probably damaging	Het
Dscam	C	T	16: 96,626,830 (GRCm39)	V360M	probably damaging	Het
Dvl2	A	G	11: 69,899,612 (GRCm39)	N518S	probably benign	Het
Eif2ak2	T	A	17: 79,176,203 (GRCm39)	K231N	probably benign	Het
Elovl4	T	C	9: 83,670,324 (GRCm39)	R123G	probably damaging	Het
Ern2	A	G	7: 121,772,931 (GRCm39)	V562A	probably damaging	Het
F13a1	A	T	13: 37,209,745 (GRCm39)	N73K	probably benign	Het
Gcc2	C	A	10: 58,103,843 (GRCm39)	Q90K	possibly damaging	Het
Gnpda1	A	T	18: 38,461,952 (GRCm39)	S282T	probably benign	Het
Gpatch1	G	T	7: 34,980,879 (GRCm39)	H880Q	unknown	Het
Haus6	T	C	4: 86,504,578 (GRCm39)	D471G	possibly damaging	Het
Hcfc1r1	G	T	17: 23,893,630 (GRCm39)	E70*	probably null	Het
Ighv1-54	A	G	12: 115,157,483 (GRCm39)	W55R	probably damaging	Het
Jam3	T	C	9: 27,017,712 (GRCm39)		probably null	Het
Klhdc7a	A	T	4: 139,694,155 (GRCm39)	V264E	possibly damaging	Het
Lrrc4c	A	T	2: 97,460,558 (GRCm39)	T395S	probably benign	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mast2	G	T	4: 116,210,208 (GRCm39)	T186K	probably damaging	Het
Meig1	T	A	2: 3,410,248 (GRCm39)	K84M	probably damaging	Het
Mep1b	G	T	18: 21,228,110 (GRCm39)	S571I	probably damaging	Het
Muc2	T	G	7: 141,281,662 (GRCm39)	V507G	probably benign	Het
Nkx2-3	C	A	19: 43,603,321 (GRCm39)	T309N	probably benign	Het
Oaf	G	A	9: 43,134,077 (GRCm39)	R215C	probably damaging	Het
Or1ad1	A	T	11: 50,875,845 (GRCm39)	T106S	probably benign	Het
Or5b109	A	T	19: 13,211,901 (GRCm39)	N96Y	possibly damaging	Het
Or8b1c	T	C	9: 38,384,243 (GRCm39)	S67P	probably damaging	Het
Pla2r1	T	G	2: 60,277,819 (GRCm39)	T835P	possibly damaging	Het
Ppil6	C	T	10: 41,377,862 (GRCm39)	T191I	probably benign	Het
Rps6ka5	T	C	12: 100,519,408 (GRCm39)	D735G	possibly damaging	Het
Setx	T	A	2: 29,063,581 (GRCm39)	N2292K	probably damaging	Het
Slc1a6	A	T	10: 78,632,094 (GRCm39)	I307F	probably damaging	Het
Slc5a3	T	A	16: 91,875,907 (GRCm39)	W655R	probably benign	Het
Slc9a1	T	C	4: 133,097,753 (GRCm39)		probably benign	Het
Sptbn1	A	G	11: 30,104,320 (GRCm39)	V128A	probably damaging	Het
Tenm3	T	A	8: 48,682,146 (GRCm39)	K2495*	probably null	Het
Tnni3k	T	A	3: 154,744,161 (GRCm39)	T64S	probably damaging	Het
Top1	T	C	2: 160,556,176 (GRCm39)	V545A	possibly damaging	Het
Trabd	A	G	15: 88,966,157 (GRCm39)	D38G	possibly damaging	Het
Umad1	G	A	6: 8,401,140 (GRCm39)	D70N	unknown	Het
Usp36	T	C	11: 118,176,791 (GRCm39)	E9G	probably damaging	Het
Vmn2r53	A	G	7: 12,316,026 (GRCm39)	S598P	probably damaging	Het
Vmn2r60	A	T	7: 41,844,511 (GRCm39)	T625S	probably benign	Het
Vmn2r72	G	A	7: 85,398,838 (GRCm39)	T505I	probably benign	Het
Vwce	T	A	19: 10,641,647 (GRCm39)	I791K	probably benign	Het
Wdr64	C	A	1: 175,639,668 (GRCm39)	H1046N	probably benign	Het
Zdhhc4	A	T	5: 143,306,031 (GRCm39)	D232E	probably damaging	Het
Zfp984	A	T	4: 147,842,165 (GRCm39)	F51I	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATCCTGCATATAAATTTGAGCTGGG -3'
(R):5'- TGACCTGAAAATGCCTAGTTGC -3'

Sequencing Primer
(F):5'- GGGACTAATGTACATAGAGTCGTTC -3'
(R):5'- TGCCTAGTTGCTAATAGAAAGAGTG -3'

Posted On

2019-12-20