Mutagenetix > Incidental Mutation

Incidental Mutation 'R0384:Tspoap1'

31188

Institutional Source

Beutler Lab

Gene Symbol

Tspoap1

Ensembl Gene

ENSMUSG00000034156

Gene Name

TSPO associated protein 1

Synonyms

Bzrap1, peripheral

MMRRC Submission

038590-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0384 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87651367-87676754 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 87657280 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 364 (Q364L)

Ref Sequence

ENSEMBL: ENSMUSP00000098209 (fasta)

Gene Model

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

AlphaFold

Q7TNF8

Predicted Effect

probably damaging
Transcript: ENSMUST00000039627
AA Change: Q424L

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

SMART Domains

Protein: ENSMUSP00000048063
Gene: ENSMUSG00000034156
AA Change: Q424L

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: Q364L

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

SMART Domains

Protein: ENSMUSP00000098209
Gene: ENSMUSG00000034156
AA Change: Q364L

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

Meta Mutation Damage Score

0.0949

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (72/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam8	T	A	7: 139,566,725 (GRCm39)		probably benign	Het
Akr1b8	T	C	6: 34,341,265 (GRCm39)		probably benign	Het
Arhgef39	A	G	4: 43,498,613 (GRCm39)	L117P	probably damaging	Het
Atp13a1	A	T	8: 70,249,974 (GRCm39)	Q356L	possibly damaging	Het
Bmp2k	T	A	5: 97,178,984 (GRCm39)		probably benign	Het
Ccdc141	A	G	2: 76,857,992 (GRCm39)	V1063A	probably damaging	Het
Col20a1	T	C	2: 180,640,955 (GRCm39)	Y568H	probably benign	Het
Crabp2	T	C	3: 87,860,328 (GRCm39)	V134A	possibly damaging	Het
Cyp19a1	T	C	9: 54,080,025 (GRCm39)	K265E	probably benign	Het
Cyp2j9	T	C	4: 96,474,122 (GRCm39)	H106R	probably benign	Het
Dcps	T	C	9: 35,087,239 (GRCm39)	K9R	probably damaging	Het
Dnajc6	C	T	4: 101,456,153 (GRCm39)	T47I	probably damaging	Het
Dnhd1	T	G	7: 105,369,321 (GRCm39)	S4315A	possibly damaging	Het
Dnmt3l	A	T	10: 77,888,571 (GRCm39)	I158F	possibly damaging	Het
Dock3	A	G	9: 106,779,094 (GRCm39)		probably benign	Het
Eefsec	A	G	6: 88,258,632 (GRCm39)		probably null	Het
Fam204a	T	C	19: 60,209,728 (GRCm39)	M1V	probably null	Het
Fam98b	T	C	2: 117,098,328 (GRCm39)	V266A	possibly damaging	Het
Fat2	A	T	11: 55,160,291 (GRCm39)	I3274N	possibly damaging	Het
Fbh1	A	G	2: 11,754,389 (GRCm39)	I198T	probably damaging	Het
Fer	T	C	17: 64,231,179 (GRCm39)		probably benign	Het
Fhad1	T	A	4: 141,729,737 (GRCm39)	M89L	probably benign	Het
Fjx1	C	A	2: 102,281,452 (GRCm39)	C161F	probably damaging	Het
Fkbp7	T	A	2: 76,496,168 (GRCm39)		probably benign	Het
Gm42669	T	A	5: 107,656,664 (GRCm39)	C976S	probably benign	Het
Gm4845	T	C	1: 141,184,823 (GRCm39)		noncoding transcript	Het
Herc1	T	A	9: 66,388,332 (GRCm39)		probably benign	Het
Hook3	C	T	8: 26,534,263 (GRCm39)		probably null	Het
Idh2	C	T	7: 79,748,005 (GRCm39)	A232T	probably damaging	Het
Itga2b	A	T	11: 102,356,188 (GRCm39)		probably null	Het
Klk1b21	T	C	7: 43,754,917 (GRCm39)	Y71H	probably benign	Het
Kndc1	A	T	7: 139,490,515 (GRCm39)	N339I	possibly damaging	Het
Ky	C	T	9: 102,419,289 (GRCm39)	T432I	probably benign	Het
Map4	C	T	9: 109,863,696 (GRCm39)	T307I	probably damaging	Het
Matn1	T	C	4: 130,671,787 (GRCm39)	L18P	probably benign	Het
Mindy4	G	A	6: 55,193,669 (GRCm39)	D121N	probably damaging	Het
Mpv17l	A	T	16: 13,758,863 (GRCm39)	I96L	probably benign	Het
Msto1	G	A	3: 88,817,646 (GRCm39)	Q441*	probably null	Het
Muc5ac	A	G	7: 141,365,988 (GRCm39)	H2048R	possibly damaging	Het
Musk	T	C	4: 58,373,711 (GRCm39)	*879Q	probably null	Het
Nat8f2	T	C	6: 85,845,350 (GRCm39)	Y4C	possibly damaging	Het
Ncaph2	T	A	15: 89,253,594 (GRCm39)	I282N	probably benign	Het
Nid1	A	G	13: 13,638,421 (GRCm39)	T114A	probably benign	Het
Npr1	C	A	3: 90,372,474 (GRCm39)	G113C	probably damaging	Het
Nrxn1	G	A	17: 90,515,775 (GRCm39)	P193S	probably damaging	Het
Nwd2	T	C	5: 63,963,025 (GRCm39)	F870L	probably benign	Het
Or10h1b	A	G	17: 33,395,522 (GRCm39)	I45V	probably damaging	Het
Or4c122	A	G	2: 89,079,414 (GRCm39)	I208T	possibly damaging	Het
Or6c5c	T	A	10: 129,298,909 (GRCm39)	Y121*	probably null	Het
Or8k30	T	A	2: 86,339,727 (GRCm39)	I308K	possibly damaging	Het
Phf14	A	G	6: 11,997,019 (GRCm39)		probably benign	Het
Pnpla5	G	T	15: 84,004,920 (GRCm39)	L144M	probably damaging	Het
Prdm2	T	C	4: 142,862,258 (GRCm39)	E344G	probably benign	Het
Psmd12	T	C	11: 107,376,547 (GRCm39)	V61A	probably benign	Het
Relt	T	C	7: 100,496,712 (GRCm39)	D385G	probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scg2	T	A	1: 79,413,266 (GRCm39)	I446F	probably benign	Het
Sema3b	G	A	9: 107,478,165 (GRCm39)	L407F	probably damaging	Het
Slc25a13	A	T	6: 6,042,600 (GRCm39)	Y601*	probably null	Het
Sun5	C	T	2: 153,700,885 (GRCm39)	V270I	probably benign	Het
Tex52	A	G	6: 128,356,496 (GRCm39)	Y63C	probably damaging	Het
Tmem138	A	G	19: 10,552,186 (GRCm39)		probably benign	Het
Tnpo3	A	G	6: 29,582,163 (GRCm39)		probably null	Het
Ttc41	T	C	10: 86,599,811 (GRCm39)	L1037P	probably damaging	Het
Ugcg	T	A	4: 59,220,387 (GRCm39)	D393E	possibly damaging	Het
Vmn1r184	T	C	7: 25,967,076 (GRCm39)	I274T	probably benign	Het
Vmn2r27	A	G	6: 124,200,871 (GRCm39)	V362A	probably benign	Het
Vmn2r87	T	A	10: 130,307,712 (GRCm39)	Y842F	probably benign	Het
Vps8	T	A	16: 21,325,575 (GRCm39)		probably benign	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
IGL02979:Tspoap1	APN	11	87,661,347 (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

Predicted Primers

PCR Primer
(F):5'- TTCCTCAGGAACCGCAGAATCCTC -3'
(R):5'- AGATTGGAGAACCTCAGCTACCACC -3'

Sequencing Primer
(F):5'- GATTCTTCAACATGAGAGGCTG -3'
(R):5'- GCTACCACCTGCTCCAGATG -3'

Posted On

2013-04-24