Mutagenetix > Incidental Mutation

Incidental Mutation 'R2130:Tecpr1'

227940

Institutional Source

Beutler Lab

Gene Symbol

Tecpr1

Ensembl Gene

ENSMUSG00000066621

Gene Name

tectonin beta-propeller repeat containing 1

Synonyms

MMRRC Submission

040133-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2130 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144194442-144223615 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144208645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 595 (T595S)

Ref Sequence

ENSEMBL: ENSMUSP00000082844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085701]

AlphaFold

Q80VP0

Predicted Effect

probably benign
Transcript: ENSMUST00000085701
AA Change: T595S

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: T595S

Domain	Start	End	E-Value	Type
TECPR	23	59	8.98e1	SMART
DysFN	64	125	6.72e-24	SMART
DysFC	137	170	1.89e-9	SMART
TECPR	192	225	1.79e-1	SMART
TECPR	234	270	2.5e-9	SMART
TECPR	279	317	4.99e-9	SMART
TECPR	326	361	2.42e-7	SMART
low complexity region	381	394	N/A	INTRINSIC
PH	614	724	1.69e-2	SMART
TECPR	711	750	1.88e-4	SMART
TECPR	766	800	3.27e-4	SMART
DysFN	821	882	2.95e-20	SMART
DysFC	893	926	1.66e-14	SMART
TECPR	940	974	1.69e1	SMART
TECPR	983	1019	1.45e-5	SMART
TECPR	1028	1065	1.51e-8	SMART
TECPR	1074	1109	1.59e-2	SMART
low complexity region	1125	1137	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137149

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153103

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156129

Meta Mutation Damage Score

0.0601

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

94% (94/100)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tethering factor involved in autophagy. The encoded protein is found at autolysosomes, and is involved in targeting protein aggregates, damaged mitochondria, and bacterial pathogens for autophagy [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired selective autophagy and abnormal response to bacterial infection in MEFs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260	N178I	probably damaging	Het
Adgrl2	T	C	3: 148,890,488	I71V	probably damaging	Het
Adgrv1	T	C	13: 81,581,727	T212A	possibly damaging	Het
Aox3	A	G	1: 58,169,843	H845R	probably damaging	Het
Apaf1	A	T	10: 91,060,165	Y348*	probably null	Het
Apobr	A	G	7: 126,587,206	T630A	probably benign	Het
Arhgap23	A	G	11: 97,451,561	D223G	possibly damaging	Het
Asic1	A	T	15: 99,671,875	T26S	possibly damaging	Het
Atp13a2	T	A	4: 141,005,016	M864K	probably damaging	Het
Atrnl1	G	A	19: 57,654,994	G438D	probably damaging	Het
Bbc3	T	C	7: 16,312,343	V68A	possibly damaging	Het
Birc6	T	C	17: 74,659,154		probably benign	Het
Btnl9	A	G	11: 49,180,696	F100S	probably damaging	Het
Ccpg1	A	G	9: 73,013,158	N685S	probably damaging	Het
Ces3b	T	A	8: 105,092,975		probably null	Het
Cfhr2	T	G	1: 139,831,155	R52S	probably benign	Het
Clhc1	A	G	11: 29,557,663	I126V	probably benign	Het
Crocc	T	C	4: 141,029,102	I1071V	probably benign	Het
Dbt	T	A	3: 116,539,124	D16E	probably damaging	Het
Dnajc8	T	C	4: 132,544,059	S62P	possibly damaging	Het
Dpyd	T	C	3: 118,674,568	V77A	probably benign	Het
Dram2	T	A	3: 106,570,760	M136K	possibly damaging	Het
Dtx2	T	A	5: 136,012,040	F100I	probably damaging	Het
Dync2h1	A	T	9: 7,011,253	W3654R	probably damaging	Het
Fam129b	A	G	2: 32,923,647	K624R	probably benign	Het
Fam208a	T	A	14: 27,446,388	Y296N	probably damaging	Het
Fam208a	A	G	14: 27,476,614	N1301S	possibly damaging	Het
Fbxw10	T	A	11: 62,859,857	I422N	probably damaging	Het
Fgf17	T	C	14: 70,638,487	R102G	probably damaging	Het
Gatsl2	G	A	5: 134,136,153	C187Y	probably damaging	Het
Gm28040	AGTG	AGTGGCACCTTTGGTG	1: 133,327,321		probably benign	Het
Gm6578	C	A	6: 12,100,187		noncoding transcript	Het
Gm8298	T	C	3: 59,865,348	V91A	probably damaging	Het
Gm8374	T	C	14: 7,364,194	T49A	probably damaging	Het
Gm9797	G	T	10: 11,609,369		noncoding transcript	Het
Golga3	T	C	5: 110,202,939		probably null	Het
Golim4	A	T	3: 75,908,149	V116D	probably damaging	Het
Igfn1	AGGG	AGG	1: 135,974,852		probably benign	Het
Insrr	G	A	3: 87,810,572		probably null	Het
Ipo9	ATCCTCCTCCTCCTCCTC	ATCCTCCTCCTCCTCCTCCTC	1: 135,386,268		probably benign	Het
Ipo9	A	G	1: 135,402,250	V484A	probably benign	Het
Isoc2b	A	T	7: 4,851,439	I31N	probably damaging	Het
Kif5c	T	A	2: 49,758,805		probably benign	Het
Krtap16-1	A	T	11: 99,985,776	C267*	probably null	Het
Lamc2	T	A	1: 153,127,124	D1037V	probably damaging	Het
Lhfpl2	A	G	13: 94,192,049	D206G	possibly damaging	Het
Lmtk2	C	T	5: 144,174,988	T842I	possibly damaging	Het
Mgat2	T	C	12: 69,185,294	F214S	probably damaging	Het
Mki67	T	A	7: 135,704,241		probably null	Het
Mpo	A	G	11: 87,797,361	D282G	possibly damaging	Het
Myh10	A	G	11: 68,807,289		probably benign	Het
Myo15b	G	A	11: 115,871,643	V1229I	probably benign	Het
Nfatc2ip	A	G	7: 126,390,462	V250A	probably benign	Het
Nrp1	A	T	8: 128,498,516	E782D	probably damaging	Het
Olfml3	T	A	3: 103,735,869	M399L	probably benign	Het
Olfr341	A	G	2: 36,480,047	S28P	possibly damaging	Het
Olfr453	C	A	6: 42,744,135	L33M	possibly damaging	Het
Olfr683	T	A	7: 105,143,550	I254F	probably benign	Het
Optc	A	T	1: 133,903,796		probably null	Het
Plekha6	C	A	1: 133,279,365		probably null	Het
Prelp	C	T	1: 133,915,131	R92K	probably benign	Het
Psph	T	A	5: 129,787,539		probably null	Het
Ptpro	A	G	6: 137,411,116		probably null	Het
Pzp	T	C	6: 128,491,161		probably null	Het
Qrich2	C	T	11: 116,448,417		probably benign	Het
Ren1	C	G	1: 133,350,778		probably null	Het
Rfwd3	A	T	8: 111,297,402	V96E	probably benign	Het
Rnf17	T	C	14: 56,493,354	V1205A	probably damaging	Het
Senp1	T	A	15: 98,075,967	T132S	probably benign	Het
Sgo2b	T	C	8: 63,927,147	R884G	probably benign	Het
Slc10a5	G	T	3: 10,335,218	D127E	probably benign	Het
Slc25a35	T	G	11: 68,968,965	S101R	possibly damaging	Het
Slc6a13	T	C	6: 121,325,041	L194P	possibly damaging	Het
Snw1	T	G	12: 87,452,703		probably benign	Het
Sort1	T	A	3: 108,351,686	F678Y	probably benign	Het
Srsf12	C	T	4: 33,225,764		probably benign	Het
Ssxa1	T	A	X: 21,119,342		probably benign	Het
Stard13	T	C	5: 151,045,168	Y879C	probably damaging	Het
Syt2	ACTCTCTCT	ACTCTCTCTCT	1: 134,746,741		probably benign	Het
Tacr3	T	C	3: 134,932,180	V366A	probably benign	Het
Tjp3	T	A	10: 81,278,054	M457L	possibly damaging	Het
Tkfc	A	G	19: 10,596,041	I279T	probably damaging	Het
Tmem98	A	G	11: 80,817,522	E106G	probably damaging	Het
Tnnt2	TG	TGG	1: 135,846,761		probably benign	Het
Trim41	C	A	11: 48,807,592	G516W	probably damaging	Het
Trove2	T	C	1: 143,760,034	D458G	probably benign	Het
Ttn	T	C	2: 76,742,517	T24265A	possibly damaging	Het
Usp37	A	G	1: 74,461,656	V582A	probably damaging	Het
Vps13b	T	A	15: 35,671,400	I1683N	probably benign	Het
Vps13d	C	T	4: 145,156,101	R968H	probably benign	Het
Vwf	C	T	6: 125,657,057	T166I	probably damaging	Het
Zfp280d	T	C	9: 72,308,005	F133L	probably damaging	Het
Zfp459	A	T	13: 67,408,276	H229Q	probably benign	Het
Zfyve26	T	A	12: 79,268,434	I1423F	possibly damaging	Het
Zmynd19	T	A	2: 24,952,636	Y15*	probably null	Het

Other mutations in Tecpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Tecpr1	APN	5	144208593	critical splice donor site	probably null
IGL01774:Tecpr1	APN	5	144211540	missense	probably damaging	0.97
IGL01960:Tecpr1	APN	5	144216919	missense	probably benign	0.00
IGL01973:Tecpr1	APN	5	144197988	splice site	probably benign
IGL02244:Tecpr1	APN	5	144210003	missense	probably benign
IGL02247:Tecpr1	APN	5	144206554	missense	possibly damaging	0.64
IGL02423:Tecpr1	APN	5	144203487	missense	possibly damaging	0.88
IGL02679:Tecpr1	APN	5	144206546	missense	probably benign	0.28
larghissimo	UTSW	5	144217257	missense	probably damaging	1.00
PIT4531001:Tecpr1	UTSW	5	144214067	missense	probably damaging	0.96
R0121:Tecpr1	UTSW	5	144210199	missense	probably benign	0.02
R0125:Tecpr1	UTSW	5	144197899	missense	probably damaging	1.00
R0194:Tecpr1	UTSW	5	144218517	missense	probably damaging	1.00
R0376:Tecpr1	UTSW	5	144207476	missense	possibly damaging	0.94
R0441:Tecpr1	UTSW	5	144195941	missense	probably benign
R0504:Tecpr1	UTSW	5	144214081	missense	probably damaging	0.99
R0538:Tecpr1	UTSW	5	144206274	missense	probably damaging	0.99
R0586:Tecpr1	UTSW	5	144217401	missense	probably damaging	1.00
R0607:Tecpr1	UTSW	5	144212590	missense	probably damaging	1.00
R0608:Tecpr1	UTSW	5	144211499	missense	probably damaging	1.00
R0656:Tecpr1	UTSW	5	144214053	splice site	probably null
R0835:Tecpr1	UTSW	5	144212592	missense	possibly damaging	0.81
R1080:Tecpr1	UTSW	5	144216929	missense	probably damaging	1.00
R1394:Tecpr1	UTSW	5	144206539	missense	possibly damaging	0.77
R1597:Tecpr1	UTSW	5	144214310	missense	probably benign	0.00
R1663:Tecpr1	UTSW	5	144197944	missense	probably benign	0.17
R1785:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
R1786:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
R1833:Tecpr1	UTSW	5	144208608	missense	probably damaging	0.99
R1883:Tecpr1	UTSW	5	144206529	missense	probably benign	0.03
R1988:Tecpr1	UTSW	5	144204697	missense	possibly damaging	0.94
R2131:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
R2132:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
R2133:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
R2172:Tecpr1	UTSW	5	144196417	missense	probably damaging	1.00
R2172:Tecpr1	UTSW	5	144211456	missense	probably benign	0.10
R2290:Tecpr1	UTSW	5	144214063	missense	probably damaging	0.99
R3691:Tecpr1	UTSW	5	144209979	missense	probably benign	0.10
R4027:Tecpr1	UTSW	5	144206259	missense	probably benign	0.41
R4587:Tecpr1	UTSW	5	144212590	missense	probably damaging	0.96
R4684:Tecpr1	UTSW	5	144207437	missense	probably benign	0.16
R4864:Tecpr1	UTSW	5	144214117	missense	probably benign	0.00
R4932:Tecpr1	UTSW	5	144204658	missense	probably damaging	0.97
R4955:Tecpr1	UTSW	5	144217257	missense	probably damaging	1.00
R5043:Tecpr1	UTSW	5	144197854	splice site	probably null
R5459:Tecpr1	UTSW	5	144207416	missense	probably damaging	1.00
R5579:Tecpr1	UTSW	5	144214344	missense	possibly damaging	0.55
R5677:Tecpr1	UTSW	5	144218633	nonsense	probably null
R5679:Tecpr1	UTSW	5	144207423	missense	possibly damaging	0.69
R5802:Tecpr1	UTSW	5	144206546	missense	probably benign	0.28
R6000:Tecpr1	UTSW	5	144211421	missense	probably benign	0.02
R6022:Tecpr1	UTSW	5	144199191	missense	possibly damaging	0.95
R6114:Tecpr1	UTSW	5	144204640	missense	possibly damaging	0.81
R6251:Tecpr1	UTSW	5	144198576	missense	probably damaging	0.97
R6372:Tecpr1	UTSW	5	144216958	missense	probably damaging	1.00
R6493:Tecpr1	UTSW	5	144209974	missense	probably benign
R7276:Tecpr1	UTSW	5	144217020	nonsense	probably null
R7314:Tecpr1	UTSW	5	144217332	missense	probably damaging	1.00
R7375:Tecpr1	UTSW	5	144208599	missense	possibly damaging	0.68
R7632:Tecpr1	UTSW	5	144218726	missense	probably benign	0.03
R7702:Tecpr1	UTSW	5	144203418	missense	probably damaging	1.00
R8135:Tecpr1	UTSW	5	144198602	missense	probably damaging	0.99
R8406:Tecpr1	UTSW	5	144200840	missense	probably damaging	1.00
R8844:Tecpr1	UTSW	5	144216299	missense	possibly damaging	0.94
R8856:Tecpr1	UTSW	5	144216299	missense	possibly damaging	0.94
R8857:Tecpr1	UTSW	5	144216299	missense	possibly damaging	0.94
R8866:Tecpr1	UTSW	5	144216299	missense	possibly damaging	0.94
R8903:Tecpr1	UTSW	5	144214027	intron	probably benign
R8926:Tecpr1	UTSW	5	144216962	missense	probably damaging	1.00
R9218:Tecpr1	UTSW	5	144217231	missense	possibly damaging	0.70
R9423:Tecpr1	UTSW	5	144218578	missense	probably damaging	0.98
RF001:Tecpr1	UTSW	5	144217386	missense	probably damaging	0.99
Z1176:Tecpr1	UTSW	5	144218591	missense	probably benign	0.28

Predicted Primers

PCR Primer
(F):5'- CTTGATTCTTTAACCTTGGGACTG -3'
(R):5'- TCAAGGTGACTGTCAGACGG -3'

Sequencing Primer
(F):5'- AGCTGAAATGCTGAGTGCCC -3'
(R):5'- TGACTGTCAGACGGGCCATC -3'

Posted On

2014-09-17