Mutagenetix > Incidental Mutation

Incidental Mutation 'R0470:Tspoap1'

41809

Institutional Source

Beutler Lab

Gene Symbol

Tspoap1

Ensembl Gene

ENSMUSG00000034156

Gene Name

TSPO associated protein 1

Synonyms

Bzrap1, peripheral

MMRRC Submission

038670-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0470 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87760541-87785928 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 87776162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1027 (S1027P)

Ref Sequence

ENSEMBL: ENSMUSP00000098209 (fasta)

Gene Model

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

AlphaFold

Q7TNF8

Predicted Effect

probably benign
Transcript: ENSMUST00000039627
AA Change: S1087P

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: S1087P

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: S1027P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: S1027P

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

probably benign
Transcript: ENSMUST00000133645

SMART Domains

Protein: ENSMUSP00000117356
Gene: ENSMUSG00000034156

Domain	Start	End	E-Value	Type
low complexity region	39	50	N/A	INTRINSIC
SH3	88	151	5.48e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135957

Predicted Effect

probably benign
Transcript: ENSMUST00000142329

SMART Domains

Protein: ENSMUSP00000118819
Gene: ENSMUSG00000034156

Domain	Start	End	E-Value	Type
low complexity region	72	83	N/A	INTRINSIC
SH3	157	221	5.4e-13	SMART
low complexity region	259	270	N/A	INTRINSIC
SH3	296	359	5.48e-14	SMART

Predicted Effect

silent
Transcript: ENSMUST00000144502

SMART Domains

Protein: ENSMUSP00000122665
Gene: ENSMUSG00000034156

Domain	Start	End	E-Value	Type
low complexity region	146	157	N/A	INTRINSIC
PDB:2CSQ\|A	223	250	8e-8	PDB
Blast:SH3	231	251	5e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148814

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153578

Meta Mutation Damage Score

0.1273

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 93.0%

Validation Efficiency

98% (55/56)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730017C20Rik	C	T	18: 59,075,639	R120C	probably damaging	Het
Ahnak	T	G	19: 9,008,967	D2538E	probably benign	Het
Akr1c13	T	A	13: 4,198,501	L235H	probably damaging	Het
Ank	G	A	15: 27,571,635	C331Y	probably damaging	Het
Ankrd12	T	C	17: 65,986,134	E768G	probably benign	Het
Atm	A	T	9: 53,460,966	V2172E	probably damaging	Het
Atp10b	T	A	11: 43,203,039	L470Q	possibly damaging	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Cdadc1	A	T	14: 59,573,841		probably benign	Het
Cfhr2	A	T	1: 139,821,779	V155E	probably damaging	Het
Chp1	C	T	2: 119,560,763	R34C	probably damaging	Het
Cilp2	A	T	8: 69,885,405	V192E	possibly damaging	Het
Cyth1	T	C	11: 118,132,248		probably benign	Het
Dnah8	T	A	17: 30,708,540		probably benign	Het
Gja3	T	C	14: 57,036,427	T163A	probably damaging	Het
Gsdmcl1	C	T	15: 63,850,431		noncoding transcript	Het
Herc6	C	T	6: 57,619,452	T459M	probably damaging	Het
Hexb	A	G	13: 97,177,999	L412P	probably damaging	Het
Il17ra	T	G	6: 120,481,806	D639E	probably benign	Het
Kcnh5	G	A	12: 75,114,414	T240I	probably benign	Het
Lef1	T	C	3: 131,112,826		probably benign	Het
Lilrb4a	T	A	10: 51,494,827	N282K	possibly damaging	Het
Mbnl2	A	T	14: 120,404,650	H342L	probably damaging	Het
Nipal3	A	G	4: 135,447,372	V356A	probably damaging	Het
Olfr441	C	G	6: 43,116,624	A294G	probably null	Het
Olfr640	A	T	7: 104,021,670	I216N	probably damaging	Het
Plekha6	G	A	1: 133,272,307	R208Q	probably benign	Het
Prkar1b	A	G	5: 139,050,749	I82T	probably damaging	Het
Prrc1	C	T	18: 57,363,397	T140M	probably damaging	Het
Psg22	A	C	7: 18,719,664	S95R	probably damaging	Het
Ptk6	T	C	2: 181,195,939	T396A	probably benign	Het
Ptov1	A	G	7: 44,864,811	S9P	probably damaging	Het
Scin	A	C	12: 40,073,292		probably benign	Het
Sec13	T	C	6: 113,740,632		probably benign	Het
Setd1a	G	A	7: 127,785,057		probably benign	Het
Sf3a2	G	A	10: 80,804,554		probably benign	Het
Shmt1	T	C	11: 60,792,963	Y341C	possibly damaging	Het
Slc27a4	T	A	2: 29,804,185	L7Q	probably benign	Het
Slc41a2	T	C	10: 83,316,222	M130V	possibly damaging	Het
Sorcs3	T	C	19: 48,797,517		probably null	Het
Tex24	C	T	8: 27,344,908	R155*	probably null	Het
Tgfb1	T	A	7: 25,687,930		probably benign	Het
Tmc5	A	G	7: 118,639,931	D349G	possibly damaging	Het
Trappc13	C	T	13: 104,161,004	V131I	possibly damaging	Het
Trim66	A	G	7: 109,457,542		probably benign	Het
Usp34	C	T	11: 23,436,001	H2143Y	possibly damaging	Het
Vmn1r179	A	C	7: 23,928,393	Y3S	probably benign	Het
Vmn1r231	G	A	17: 20,890,003	Q217*	probably null	Het
Vmn1r62	T	A	7: 5,676,067	L249*	probably null	Het
Vmn1r71	G	C	7: 10,748,092	S223C	possibly damaging	Het
Vmn2r109	T	C	17: 20,552,886	Q491R	probably benign	Het
Vwf	G	A	6: 125,628,428	V925M	possibly damaging	Het
Wisp1	A	G	15: 66,917,378	I238V	probably benign	Het
Zbtb6	A	C	2: 37,429,493	L141W	probably damaging	Het
Zranb1	G	T	7: 132,982,771	L615F	probably damaging	Het

Other mutations in Tspoap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00502:Tspoap1	APN	11	87777821	splice site	probably null
IGL01718:Tspoap1	APN	11	87780255	missense	possibly damaging	0.90
IGL02427:Tspoap1	APN	11	87762515	missense	probably benign	0.00
IGL02487:Tspoap1	APN	11	87762516	missense	possibly damaging	0.90
IGL02730:Tspoap1	APN	11	87781709	missense	probably damaging	0.98
IGL02979:Tspoap1	APN	11	87770521	missense	probably damaging	1.00
R0384:Tspoap1	UTSW	11	87766454	missense	probably damaging	1.00
R0396:Tspoap1	UTSW	11	87776346	splice site	probably benign
R0637:Tspoap1	UTSW	11	87777240	splice site	probably benign
R0671:Tspoap1	UTSW	11	87762809	missense	probably damaging	1.00
R0960:Tspoap1	UTSW	11	87770595	splice site	probably benign
R0989:Tspoap1	UTSW	11	87765823	missense	probably damaging	0.99
R1396:Tspoap1	UTSW	11	87766120	missense	probably damaging	1.00
R1792:Tspoap1	UTSW	11	87765881	splice site	probably null
R2901:Tspoap1	UTSW	11	87777975	missense	probably benign	0.00
R2902:Tspoap1	UTSW	11	87777975	missense	probably benign	0.00
R3969:Tspoap1	UTSW	11	87762446	missense	probably damaging	1.00
R4400:Tspoap1	UTSW	11	87775603	missense	probably damaging	1.00
R4599:Tspoap1	UTSW	11	87779521	missense	probably damaging	1.00
R4635:Tspoap1	UTSW	11	87777857	missense	probably benign	0.25
R4731:Tspoap1	UTSW	11	87765647	missense	probably benign	0.09
R4755:Tspoap1	UTSW	11	87771663	missense	possibly damaging	0.77
R4780:Tspoap1	UTSW	11	87778443	missense	possibly damaging	0.48
R4960:Tspoap1	UTSW	11	87766396	nonsense	probably null
R5494:Tspoap1	UTSW	11	87775205	missense	possibly damaging	0.47
R5687:Tspoap1	UTSW	11	87777126	missense	probably damaging	1.00
R6200:Tspoap1	UTSW	11	87761703	missense	possibly damaging	0.85
R6563:Tspoap1	UTSW	11	87777159	missense	possibly damaging	0.87
R6816:Tspoap1	UTSW	11	87765665	missense	probably benign
R6897:Tspoap1	UTSW	11	87765812	missense	probably damaging	1.00
R7141:Tspoap1	UTSW	11	87774697	missense	probably damaging	1.00
R7215:Tspoap1	UTSW	11	87770489	missense	probably benign	0.02
R7341:Tspoap1	UTSW	11	87766379	missense	probably damaging	1.00
R7360:Tspoap1	UTSW	11	87778521	missense	probably benign	0.09
R7394:Tspoap1	UTSW	11	87766119	nonsense	probably null
R7483:Tspoap1	UTSW	11	87761525	missense	probably benign	0.00
R7617:Tspoap1	UTSW	11	87763625	missense	probably benign	0.02
R7793:Tspoap1	UTSW	11	87764310	missense	probably benign	0.00
R7814:Tspoap1	UTSW	11	87775524	missense	probably damaging	1.00
R8371:Tspoap1	UTSW	11	87778301	missense	probably benign	0.01
R8768:Tspoap1	UTSW	11	87778371	missense	probably benign	0.03
R8987:Tspoap1	UTSW	11	87763568	missense	probably damaging	1.00
R9004:Tspoap1	UTSW	11	87779458	missense
R9259:Tspoap1	UTSW	11	87779524	missense
R9339:Tspoap1	UTSW	11	87778013	missense	probably benign	0.01
R9424:Tspoap1	UTSW	11	87761256	start gained	probably benign
R9439:Tspoap1	UTSW	11	87774709	missense	probably damaging	0.98
R9455:Tspoap1	UTSW	11	87770533	missense	probably damaging	1.00
Z1176:Tspoap1	UTSW	11	87776057	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- AATGCTGTCAGGATGTCAGCCG -3'
(R):5'- GCTTCCCGTTGAAGAGACAAGTACC -3'

Sequencing Primer
(F):5'- CCTCTTCCCTATAGATTATGGAGGTG -3'
(R):5'- TACCTGAGAGCAAGGGACTG -3'

Posted On

2013-05-23