Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02979:Tspoap1'

406476

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tspoap1

Ensembl Gene

ENSMUSG00000034156

Gene Name

TSPO associated protein 1

Synonyms

Bzrap1, peripheral

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02979

Quality Score

Status

Chromosome

Chromosomal Location

87651367-87676754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 87661347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 600 (L600F)

Ref Sequence

ENSEMBL: ENSMUSP00000048063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039627] [ENSMUST00000100644]

AlphaFold

Q7TNF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000039627
AA Change: L600F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: L600F

Domain	Start	End	E-Value	Type
coiled coil region	121	190	N/A	INTRINSIC
coiled coil region	219	249	N/A	INTRINSIC
low complexity region	301	309	N/A	INTRINSIC
coiled coil region	331	519	N/A	INTRINSIC
low complexity region	598	612	N/A	INTRINSIC
low complexity region	625	638	N/A	INTRINSIC
SH3	652	715	1.85e-11	SMART
low complexity region	733	759	N/A	INTRINSIC
FN3	784	864	3.14e0	SMART
FN3	878	951	4.81e-4	SMART
FN3	975	1062	7.16e0	SMART
low complexity region	1254	1265	N/A	INTRINSIC
low complexity region	1301	1313	N/A	INTRINSIC
low complexity region	1387	1401	N/A	INTRINSIC
low complexity region	1455	1471	N/A	INTRINSIC
SH3	1619	1683	5.4e-13	SMART
low complexity region	1721	1732	N/A	INTRINSIC
SH3	1758	1821	5.48e-14	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100644
AA Change: L540F

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

SMART Domains

Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: L540F

Domain	Start	End	E-Value	Type
coiled coil region	121	190	N/A	INTRINSIC
low complexity region	241	249	N/A	INTRINSIC
coiled coil region	271	459	N/A	INTRINSIC
low complexity region	538	552	N/A	INTRINSIC
low complexity region	565	578	N/A	INTRINSIC
SH3	592	655	1.85e-11	SMART
low complexity region	673	699	N/A	INTRINSIC
FN3	724	804	3.14e0	SMART
FN3	818	891	4.81e-4	SMART
FN3	915	1002	7.16e0	SMART
low complexity region	1194	1205	N/A	INTRINSIC
low complexity region	1241	1253	N/A	INTRINSIC
low complexity region	1327	1341	N/A	INTRINSIC
low complexity region	1395	1411	N/A	INTRINSIC
SH3	1559	1623	5.4e-13	SMART
low complexity region	1661	1672	N/A	INTRINSIC
SH3	1698	1761	5.48e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148422

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous double-KO with Rimbp2^tm1.2Geno does not exacerbate the phenotype of the latter single KO. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	T	8: 44,104,408 (GRCm39)	N412K	probably damaging	Het
Ank3	A	G	10: 69,837,929 (GRCm39)	T1646A	probably benign	Het
C8b	T	A	4: 104,631,585 (GRCm39)	S67T	probably damaging	Het
Cemip	T	A	7: 83,652,514 (GRCm39)		probably benign	Het
Chd6	T	C	2: 160,808,090 (GRCm39)	E1708G	possibly damaging	Het
Chtop	A	G	3: 90,407,402 (GRCm39)	I161T	probably benign	Het
Cplane1	T	C	15: 8,248,038 (GRCm39)	V1529A	possibly damaging	Het
Dus3l	T	C	17: 57,075,140 (GRCm39)	V388A	possibly damaging	Het
Dzank1	A	G	2: 144,330,658 (GRCm39)	F466L	probably damaging	Het
Exo1	A	G	1: 175,726,973 (GRCm39)	D428G	probably damaging	Het
Fam20c	C	T	5: 138,743,620 (GRCm39)	P219S	probably damaging	Het
Hyls1	A	T	9: 35,472,970 (GRCm39)	F149I	probably benign	Het
Kif13b	A	T	14: 65,027,146 (GRCm39)	Q1486L	probably damaging	Het
Lonp1	A	G	17: 56,928,940 (GRCm39)	V274A	probably benign	Het
Myh13	T	C	11: 67,225,788 (GRCm39)	V322A	possibly damaging	Het
Or8g34	T	C	9: 39,372,819 (GRCm39)	F28L	probably benign	Het
Pkd1l3	T	C	8: 110,388,736 (GRCm39)		probably benign	Het
Prpf31	G	A	7: 3,633,598 (GRCm39)		probably benign	Het
Rock2	C	A	12: 17,027,941 (GRCm39)	T1391K	probably benign	Het
Slc4a10	A	G	2: 62,119,091 (GRCm39)	I769V	probably null	Het
Spag9	A	G	11: 93,988,190 (GRCm39)	T416A	probably benign	Het
Ttll5	A	G	12: 85,873,356 (GRCm39)	E11G	probably damaging	Het
Uox	A	T	3: 146,316,246 (GRCm39)		probably null	Het
Wdr72	T	C	9: 74,086,838 (GRCm39)	I602T	probably damaging	Het

Other mutations in Tspoap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Tspoap1	APN	11	87,668,647 (GRCm39)	splice site	probably null
IGL01718:Tspoap1	APN	11	87,671,081 (GRCm39)	missense	possibly damaging	0.90
IGL02427:Tspoap1	APN	11	87,653,341 (GRCm39)	missense	probably benign	0.00
IGL02487:Tspoap1	APN	11	87,653,342 (GRCm39)	missense	possibly damaging	0.90
IGL02730:Tspoap1	APN	11	87,672,535 (GRCm39)	missense	probably damaging	0.98
R0384:Tspoap1	UTSW	11	87,657,280 (GRCm39)	missense	probably damaging	1.00
R0396:Tspoap1	UTSW	11	87,667,172 (GRCm39)	splice site	probably benign
R0470:Tspoap1	UTSW	11	87,666,988 (GRCm39)	missense	probably damaging	0.99
R0637:Tspoap1	UTSW	11	87,668,066 (GRCm39)	splice site	probably benign
R0671:Tspoap1	UTSW	11	87,653,635 (GRCm39)	missense	probably damaging	1.00
R0960:Tspoap1	UTSW	11	87,661,421 (GRCm39)	splice site	probably benign
R0989:Tspoap1	UTSW	11	87,656,649 (GRCm39)	missense	probably damaging	0.99
R1396:Tspoap1	UTSW	11	87,656,946 (GRCm39)	missense	probably damaging	1.00
R1792:Tspoap1	UTSW	11	87,656,707 (GRCm39)	splice site	probably null
R2901:Tspoap1	UTSW	11	87,668,801 (GRCm39)	missense	probably benign	0.00
R2902:Tspoap1	UTSW	11	87,668,801 (GRCm39)	missense	probably benign	0.00
R3969:Tspoap1	UTSW	11	87,653,272 (GRCm39)	missense	probably damaging	1.00
R4400:Tspoap1	UTSW	11	87,666,429 (GRCm39)	missense	probably damaging	1.00
R4599:Tspoap1	UTSW	11	87,670,347 (GRCm39)	missense	probably damaging	1.00
R4635:Tspoap1	UTSW	11	87,668,683 (GRCm39)	missense	probably benign	0.25
R4731:Tspoap1	UTSW	11	87,656,473 (GRCm39)	missense	probably benign	0.09
R4755:Tspoap1	UTSW	11	87,662,489 (GRCm39)	missense	possibly damaging	0.77
R4780:Tspoap1	UTSW	11	87,669,269 (GRCm39)	missense	possibly damaging	0.48
R4960:Tspoap1	UTSW	11	87,657,222 (GRCm39)	nonsense	probably null
R5494:Tspoap1	UTSW	11	87,666,031 (GRCm39)	missense	possibly damaging	0.47
R5687:Tspoap1	UTSW	11	87,667,952 (GRCm39)	missense	probably damaging	1.00
R6200:Tspoap1	UTSW	11	87,652,529 (GRCm39)	missense	possibly damaging	0.85
R6563:Tspoap1	UTSW	11	87,667,985 (GRCm39)	missense	possibly damaging	0.87
R6816:Tspoap1	UTSW	11	87,656,491 (GRCm39)	missense	probably benign
R6897:Tspoap1	UTSW	11	87,656,638 (GRCm39)	missense	probably damaging	1.00
R7141:Tspoap1	UTSW	11	87,665,523 (GRCm39)	missense	probably damaging	1.00
R7215:Tspoap1	UTSW	11	87,661,315 (GRCm39)	missense	probably benign	0.02
R7341:Tspoap1	UTSW	11	87,657,205 (GRCm39)	missense	probably damaging	1.00
R7360:Tspoap1	UTSW	11	87,669,347 (GRCm39)	missense	probably benign	0.09
R7394:Tspoap1	UTSW	11	87,656,945 (GRCm39)	nonsense	probably null
R7483:Tspoap1	UTSW	11	87,652,351 (GRCm39)	missense	probably benign	0.00
R7617:Tspoap1	UTSW	11	87,654,451 (GRCm39)	missense	probably benign	0.02
R7793:Tspoap1	UTSW	11	87,655,136 (GRCm39)	missense	probably benign	0.00
R7814:Tspoap1	UTSW	11	87,666,350 (GRCm39)	missense	probably damaging	1.00
R8371:Tspoap1	UTSW	11	87,669,127 (GRCm39)	missense	probably benign	0.01
R8768:Tspoap1	UTSW	11	87,669,197 (GRCm39)	missense	probably benign	0.03
R8987:Tspoap1	UTSW	11	87,654,394 (GRCm39)	missense	probably damaging	1.00
R9004:Tspoap1	UTSW	11	87,670,284 (GRCm39)	missense
R9259:Tspoap1	UTSW	11	87,670,350 (GRCm39)	missense
R9339:Tspoap1	UTSW	11	87,668,839 (GRCm39)	missense	probably benign	0.01
R9424:Tspoap1	UTSW	11	87,652,082 (GRCm39)	start gained	probably benign
R9439:Tspoap1	UTSW	11	87,665,535 (GRCm39)	missense	probably damaging	0.98
R9455:Tspoap1	UTSW	11	87,661,359 (GRCm39)	missense	probably damaging	1.00
Z1176:Tspoap1	UTSW	11	87,666,883 (GRCm39)	missense	possibly damaging	0.51

Posted On

2016-08-02