Mutagenetix > Incidental Mutation

Incidental Mutation 'R4755:Tspoap1'

357940

Institutional Source

Beutler Lab

Gene Symbol

Tspoap1

Ensembl Gene

ENSMUSG00000034156

Gene Name

TSPO associated protein 1

Synonyms

Bzrap1, peripheral

MMRRC Submission

042033-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4755 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87760541-87785928 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87771663 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 562 (D562V)

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: D622V

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: D622V

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

possibly damaging
Transcript: ENSMUST00000100644
AA Change: D562V

PolyPhen 2 Score 0.774 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: D562V

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: 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

probably benign
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

Meta Mutation Damage Score

0.0669

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (112/117)

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930449A18Rik	T	A	3: 59,825,859		noncoding transcript	Het
Accs	T	C	2: 93,841,337	E236G	probably damaging	Het
Agrn	C	T	4: 156,173,522		probably benign	Het
Ahi1	A	G	10: 21,055,047	I929V	possibly damaging	Het
Akap5	C	A	12: 76,327,807	C4*	probably null	Het
Amotl2	A	T	9: 102,720,480	H146L	probably damaging	Het
Ank1	A	G	8: 23,104,974	N666S	probably damaging	Het
Atp10d	A	T	5: 72,246,166	T373S	probably benign	Het
Bpifb9b	T	A	2: 154,319,694	M582K	probably benign	Het
Brca2	T	A	5: 150,559,987		probably null	Het
C130079G13Rik	C	T	3: 59,936,314	A143V	probably benign	Het
C330021F23Rik	A	T	8: 3,583,922	S8C	probably damaging	Het
Ccdc149	A	G	5: 52,404,151	V229A	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdk5rap2	A	G	4: 70,238,425	S1617P	probably damaging	Het
Cenpk	A	T	13: 104,230,871	M37L	probably benign	Het
Cenpk	A	T	13: 104,249,512	H305L	probably benign	Het
Ces5a	C	A	8: 93,535,677	A11S	probably benign	Het
Cfap65	T	C	1: 74,928,361	E186G	probably damaging	Het
Cfh	T	A	1: 140,088,808	I593F	probably damaging	Het
Clstn2	C	T	9: 97,445,673	V961I	probably benign	Het
Cog5	T	A	12: 31,869,406		probably null	Het
Col4a4	T	C	1: 82,541,174	D100G	unknown	Het
Cyp3a41a	T	C	5: 145,715,506	D61G	probably damaging	Het
Dnah10	A	G	5: 124,747,745	N655S	probably benign	Het
Dnaic1	C	G	4: 41,610,269	T295R	probably damaging	Het
Dnajc6	C	T	4: 101,550,799	A44V	probably damaging	Het
Eif4enif1	A	T	11: 3,244,016	D960V	probably damaging	Het
Fam167b	C	T	4: 129,578,342	G12R	probably damaging	Het
Fam20b	A	T	1: 156,687,496	Y266*	probably null	Het
Fer1l6	T	A	15: 58,640,211	V1509D	probably benign	Het
Fhad1	A	T	4: 141,928,483	I105N	probably damaging	Het
Fmo2	T	C	1: 162,888,805	D71G	probably damaging	Het
Folr2	T	C	7: 101,843,799	T6A	possibly damaging	Het
Fry	A	C	5: 150,398,254	E1018A	probably damaging	Het
Gas2l2	A	G	11: 83,429,367	I21T	probably damaging	Het
Gfra1	T	C	19: 58,453,244	Y85C	probably damaging	Het
Gm9117	T	C	3: 93,938,786		probably null	Het
Gpld1	A	T	13: 24,979,688	Y43F	probably benign	Het
Gpld1	T	A	13: 24,979,692	Y44*	probably null	Het
Grid2	A	G	6: 63,908,988	T123A	probably benign	Het
Grina	T	C	15: 76,249,242	L305P	probably damaging	Het
Gucy1a1	G	A	3: 82,094,795	A659V	probably benign	Het
H2-T10	T	A	17: 36,118,945	K319*	probably null	Het
Hey2	A	T	10: 30,834,304	V151E	probably benign	Het
Ighv1-69	G	A	12: 115,623,558	T13I	probably benign	Het
Il1rap	C	A	16: 26,722,782	A591E	probably benign	Het
Ildr1	T	C	16: 36,722,021	L261P	probably benign	Het
Jak1	A	G	4: 101,174,157	Y463H	probably damaging	Het
Lrp1b	T	C	2: 41,269,273	I1666V	probably benign	Het
Lrp1b	T	A	2: 41,471,016	T592S	probably benign	Het
Lrrc36	A	G	8: 105,452,144	T445A	possibly damaging	Het
Ly9	G	A	1: 171,607,238	S29F	probably damaging	Het
Mapk7	A	C	11: 61,490,843	C32W	probably damaging	Het
March10	C	T	11: 105,364,476		probably benign	Het
Mier2	A	T	10: 79,549,197	M119K	probably damaging	Het
Mpv17	A	T	5: 31,145,982	C59*	probably null	Het
Mrpl27	G	A	11: 94,653,833		probably benign	Het
Myo18b	G	A	5: 112,874,474	Q351*	probably null	Het
Myo1a	A	G	10: 127,715,688	I704M	probably damaging	Het
Nadsyn1	A	G	7: 143,806,913	C373R	probably damaging	Het
Nckipsd	C	A	9: 108,814,739	A513E	probably benign	Het
Neb	T	C	2: 52,220,209	D209G	probably damaging	Het
Nkapl	T	A	13: 21,468,287	Q52L	unknown	Het
Nptx2	G	A	5: 144,546,440	S126N	probably benign	Het
Olfr13	G	A	6: 43,174,043	S19N	probably benign	Het
Olfr653	T	A	7: 104,580,061	Y138*	probably null	Het
Olfr829	A	T	9: 18,857,180	H185L	probably benign	Het
Olfr917	A	G	9: 38,665,832	V4A	probably benign	Het
Pclo	A	T	5: 14,714,348	R4278S	unknown	Het
Pcnx	T	G	12: 81,950,294	L988R	probably damaging	Het
Prl2c5	C	A	13: 13,189,385	N75K	probably benign	Het
Prpf19	T	G	19: 10,897,790		probably benign	Het
Ralgapa1	A	G	12: 55,712,748	S997P	probably damaging	Het
Rangap1	T	C	15: 81,712,917	T226A	probably benign	Het
Rimklb	G	A	6: 122,456,406	L262F	probably damaging	Het
Rnf169	A	G	7: 99,925,723	M555T	probably benign	Het
Rp1l1	A	T	14: 64,030,070	D1035V	probably benign	Het
Scd2	T	A	19: 44,301,352	L262Q	probably damaging	Het
Scgb2b12	T	A	7: 32,325,531	M84L	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Sipa1l1	G	A	12: 82,372,386	V613I	possibly damaging	Het
Slc25a23	T	A	17: 57,052,794	D67V	possibly damaging	Het
Slc25a39	C	T	11: 102,406,666		probably benign	Het
Slc4a10	T	A	2: 62,296,988	F895Y	probably damaging	Het
Slc5a4a	A	C	10: 76,186,564	K578Q	probably benign	Het
Slc6a13	G	A	6: 121,325,049	G197S	probably damaging	Het
Smarca2	A	T	19: 26,654,483	E566V	possibly damaging	Het
Sorbs3	A	T	14: 70,184,099	N594K	probably benign	Het
Spata22	A	T	11: 73,345,756	D296V	probably damaging	Het
Sphk2	G	A	7: 45,713,634	A11V	possibly damaging	Het
Spp1	A	T	5: 104,435,215		probably benign	Het
Strn3	T	A	12: 51,610,216	I760L	possibly damaging	Het
Syk	A	T	13: 52,641,986	Y539F	probably benign	Het
Thsd7b	T	A	1: 130,210,264	Y1560N	probably benign	Het
Tmod2	C	A	9: 75,597,212	E42*	probably null	Het
Tom1l1	T	C	11: 90,685,116	E30G	probably damaging	Het
Trav10	G	A	14: 53,506,061	A40T	probably benign	Het
Trav14-2	G	A	14: 53,640,780		probably benign	Het
Tril	T	A	6: 53,818,464	E591V	probably damaging	Het
Trp53bp1	T	A	2: 121,228,606	R179*	probably null	Het
Usp44	A	T	10: 93,846,906	H406L	probably damaging	Het
Vangl1	A	G	3: 102,158,292	I509T	probably benign	Het
Vax2	T	G	6: 83,711,397	L34W	probably damaging	Het
Vmn1r55	A	T	7: 5,147,026	C133S	probably damaging	Het
Vmn2r8	T	A	5: 108,801,700	D427V	probably benign	Het
Vwde	A	G	6: 13,205,852	I232T	possibly damaging	Het
Wnk1	C	A	6: 119,963,470	A769S	probably damaging	Het
Xpo4	A	C	14: 57,618,181	S264A	probably benign	Het
Zfp330	A	T	8: 82,769,386	C75*	probably null	Het
Zfp526	T	A	7: 25,225,639	L441Q	probably benign	Het
Zfp607b	T	G	7: 27,703,505	L462R	probably damaging	Het
Zfp719	T	A	7: 43,590,793	F602I	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
R0470:Tspoap1	UTSW	11	87776162	missense	probably damaging	0.99
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
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'- AGGTTCAAGTTGTCCTCACACC -3'
(R):5'- GCTATGTCCAGGAGTCTCCATC -3'

Sequencing Primer
(F):5'- GTTGTCCTCACACCCACAGACTAG -3'
(R):5'- AGGAGTCTCCATCTTCATCCATAC -3'

Posted On

2015-11-11