Mutagenetix > Incidental Mutation

Incidental Mutation 'R8683:Tsbp1'

661916

Institutional Source

Beutler Lab

Gene Symbol

Tsbp1

Ensembl Gene

ENSMUSG00000057246

Gene Name

testis expressed basic protein 1

Synonyms

BC051142

MMRRC Submission

068538-MU

Accession Numbers

Essential gene?

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

Stock #

R8683 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34617794-34679708 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34667782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 158 (Q158L)

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: Q160L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000077685
Gene: ENSMUSG00000057246
AA Change: Q160L

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: Q167L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000094961
Gene: ENSMUSG00000057246
AA Change: Q167L

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: Q158L

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000109812
Gene: ENSMUSG00000057246
AA Change: Q158L

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

unknown
Transcript: ENSMUST00000223957
AA Change: Q142L

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	G	8: 111,768,881 (GRCm39)	D227G	possibly damaging	Het
Actl11	T	A	9: 107,806,065 (GRCm39)	D129E	probably benign	Het
Adam12	T	A	7: 133,491,929 (GRCm39)	E877D	possibly damaging	Het
Adarb2	T	A	13: 8,807,395 (GRCm39)	V732E	probably damaging	Het
Adcy1	T	C	11: 7,111,328 (GRCm39)	I873T	probably damaging	Het
Adgrg1	C	T	8: 95,736,276 (GRCm39)	H477Y	probably damaging	Het
Ahctf1	T	C	1: 179,623,321 (GRCm39)	E99G	possibly damaging	Het
Ankk1	T	A	9: 49,329,292 (GRCm39)	M93L		Het
Ankmy1	A	T	1: 92,812,972 (GRCm39)	L446M	possibly damaging	Het
Anxa10	T	A	8: 62,510,825 (GRCm39)	Y309F	probably damaging	Het
Arg2	C	T	12: 79,196,794 (GRCm39)	Q172*	probably null	Het
Atp6v0a4	T	A	6: 38,025,926 (GRCm39)	*834L	probably null	Het
Avl9	T	A	6: 56,730,378 (GRCm39)	S574T	probably benign	Het
AW551984	G	A	9: 39,511,005 (GRCm39)	T194I	possibly damaging	Het
Azin1	G	A	15: 38,493,775 (GRCm39)	L283F	probably damaging	Het
Birc6	G	A	17: 74,916,114 (GRCm39)	A1677T	possibly damaging	Het
Carm1	A	T	9: 21,497,464 (GRCm39)	D342V	possibly damaging	Het
Ccr4	T	C	9: 114,321,216 (GRCm39)	D283G	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Cntn2	A	T	1: 132,450,731 (GRCm39)	L548Q	probably damaging	Het
Copg1	A	G	6: 87,869,637 (GRCm39)	D172G	probably damaging	Het
Cyp2j12	T	A	4: 96,009,805 (GRCm39)	N185Y	probably benign	Het
Dapk3	T	C	10: 81,026,069 (GRCm39)	L120P	probably damaging	Het
Dclre1b	A	C	3: 103,711,298 (GRCm39)	S204R	probably damaging	Het
Dennd2a	G	A	6: 39,500,137 (GRCm39)	R143*	probably null	Het
Dnah5	A	T	15: 28,289,367 (GRCm39)	E1185D	probably benign	Het
Dop1b	C	T	16: 93,568,699 (GRCm39)	T1587I	probably damaging	Het
Dop1b	A	G	16: 93,570,809 (GRCm39)	T1603A	probably benign	Het
Dym	T	A	18: 75,363,089 (GRCm39)	V531E	probably damaging	Het
Dync2i1	G	T	12: 116,193,262 (GRCm39)	D563E	probably benign	Het
Ecpas	T	C	4: 58,834,515 (GRCm39)	S788G	probably benign	Het
Eif2b4	A	T	5: 31,345,274 (GRCm39)	F453L	probably damaging	Het
Entpd8	G	A	2: 24,974,992 (GRCm39)	G441D	probably damaging	Het
Galnt6	A	T	15: 100,592,603 (GRCm39)	Y535N	probably damaging	Het
Garin2	TGATGTCACAGATGTCAC	TGATGTCAC	12: 78,762,057 (GRCm39)		probably benign	Het
Gm10340	T	A	14: 14,826,748 (GRCm39)	D72E	possibly damaging	Het
Gm13102	T	A	4: 143,835,680 (GRCm39)	D449E	probably damaging	Het
Hdac9	T	A	12: 34,440,220 (GRCm39)	K386N	probably damaging	Het
Hgs	T	A	11: 120,366,044 (GRCm39)	C212*	probably null	Het
Hoxa2	C	A	6: 52,141,540 (GRCm39)	A29S	possibly damaging	Het
Ifnar1	T	A	16: 91,296,332 (GRCm39)	W278R	probably damaging	Het
Irf7	C	T	7: 140,843,422 (GRCm39)	G389R	probably null	Het
Lipo3	G	A	19: 33,759,604 (GRCm39)	L211F	probably benign	Het
Mars2	C	T	1: 55,277,741 (GRCm39)	T448I	probably benign	Het
Mcm4	C	A	16: 15,453,138 (GRCm39)	G184C	probably damaging	Het
Mmaa	C	T	8: 79,994,598 (GRCm39)	A403T	probably damaging	Het
Mmel1	A	G	4: 154,973,985 (GRCm39)	I342V	probably benign	Het
Myb	T	C	10: 21,026,405 (GRCm39)	T188A	possibly damaging	Het
Myo1g	C	T	11: 6,467,569 (GRCm39)		probably null	Het
Npas2	A	G	1: 39,386,708 (GRCm39)	Q659R	probably benign	Het
Npr1	A	G	3: 90,362,497 (GRCm39)	V941A	probably benign	Het
Numa1	T	G	7: 101,626,617 (GRCm39)	M1R	probably null	Het
Obscn	T	C	11: 58,967,705 (GRCm39)	S2700G	probably benign	Het
Or2t35	T	A	14: 14,407,480 (GRCm38)	L84H	probably benign	Het
Or4k2	A	T	14: 50,424,203 (GRCm39)	M157K	possibly damaging	Het
Or5g25	A	T	2: 85,478,410 (GRCm39)	I85N	probably benign	Het
Pdpr	T	A	8: 111,850,492 (GRCm39)	H476Q	probably damaging	Het
Pkd1l1	A	T	11: 8,821,805 (GRCm39)	S1630T		Het
Prdm16	A	G	4: 154,613,161 (GRCm39)	S89P	probably damaging	Het
Ptgdr2	T	A	19: 10,917,893 (GRCm39)	W137R	possibly damaging	Het
Ptpra	A	G	2: 130,394,187 (GRCm39)	I784V	possibly damaging	Het
Rabepk	G	T	2: 34,685,188 (GRCm39)	D77E	possibly damaging	Het
Sh2b1	GGGGACCAGCTCAGCCACGGGGACCAGCTC	GGGGACCAGCTCAGCCACAGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,066,743 (GRCm39)		probably benign	Het
Smc3	T	A	19: 53,629,616 (GRCm39)	S994T	possibly damaging	Het
Sparc	A	G	11: 55,292,783 (GRCm39)	C147R	probably damaging	Het
Supt6	A	T	11: 78,108,727 (GRCm39)	D1191E	probably benign	Het
Susd4	T	C	1: 182,719,832 (GRCm39)		probably null	Het
Tbc1d5	A	G	17: 51,291,631 (GRCm39)		probably null	Het
Tecta	T	G	9: 42,278,268 (GRCm39)	D1080A	probably damaging	Het
Tenm4	G	T	7: 96,552,064 (GRCm39)	W2538L	probably damaging	Het
Trappc9	A	G	15: 72,884,664 (GRCm39)	F439L	probably benign	Het
Vegfa	A	T	17: 46,342,396 (GRCm39)	S141T	probably benign	Het
Vmn2r9	T	A	5: 108,996,873 (GRCm39)	D132V	probably benign	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
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
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'- AGCCTAGCTGTGAGTTCTCC -3'
(R):5'- TGCACAGGAACAGTTAGATGAC -3'

Sequencing Primer
(F):5'- TCTACCCTGTGTGCAGACAG -3'
(R):5'- CAGGAACAGTTAGATGACACAGGC -3'

Posted On

2021-03-08