Mutagenetix > Incidental Mutation

Incidental Mutation 'R8856:Tecpr1'

675324

Institutional Source

Beutler Lab

Gene Symbol

Tecpr1

Ensembl Gene

ENSMUSG00000066621

Gene Name

tectonin beta-propeller repeat containing 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8856 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144194442-144223615 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 144216299 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 204 (E204G)

Ref Sequence

ENSEMBL: ENSMUSP00000082844 (fasta)

Gene Model

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

AlphaFold

Q80VP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000085701
AA Change: E204G

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: E204G

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

Meta Mutation Damage Score

0.0866

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,641,390	R214H	probably benign	Het
Abca4	A	G	3: 122,112,447	S822G	probably benign	Het
Adgrv1	T	A	13: 81,559,502	I1262F	probably benign	Het
Agbl2	A	G	2: 90,801,744	D482G	probably damaging	Het
Asph	T	A	4: 9,630,947	T134S	possibly damaging	Het
Cacna1a	C	T	8: 84,559,441	A905V	probably benign	Het
Cacna1b	C	T	2: 24,679,518	R798H	probably benign	Het
Cpne8	G	T	15: 90,601,841	Q140K	probably benign	Het
Crocc2	A	T	1: 93,193,125	N538I	probably benign	Het
Cyp2j9	T	A	4: 96,573,947	I366F	probably damaging	Het
Dchs1	A	T	7: 105,760,857	D1769E	probably damaging	Het
Def6	A	T	17: 28,216,998	I44F	probably damaging	Het
Dnah7a	G	A	1: 53,423,263	T3723M	probably damaging	Het
Ecd	T	A	14: 20,337,072	Y198F	probably damaging	Het
Ecel1	A	C	1: 87,152,038	M451R	probably damaging	Het
Eea1	A	G	10: 95,995,644	D199G	probably benign	Het
Efna5	A	T	17: 62,607,379	I217N	unknown	Het
F13a1	A	T	13: 36,916,885	D428E	probably damaging	Het
Fads1	T	G	19: 10,192,912	I272S	probably benign	Het
Fam149a	C	T	8: 45,381,574	A63T		Het
Fam83a	A	T	15: 58,009,581	N269Y	probably damaging	Het
Fasn	G	A	11: 120,818,153	T568I	possibly damaging	Het
Fbn1	A	G	2: 125,314,717	S2363P	probably damaging	Het
Fbxl4	T	A	4: 22,390,803	W329R	probably damaging	Het
Fgf12	A	T	16: 28,189,481	V189E	probably damaging	Het
Frmd4b	A	T	6: 97,292,398	Y984*	probably null	Het
Galm	A	G	17: 80,183,232	T273A	possibly damaging	Het
Gm13078	A	T	4: 143,726,733	N137I	probably benign	Het
Gm43302	A	G	5: 105,290,873	S50P	probably damaging	Het
Gm45861	C	T	8: 27,520,760	S561L	unknown	Het
Gm9573	T	C	17: 35,620,973	T774A	unknown	Het
Gnao1	A	G	8: 93,811,417	I28V	probably benign	Het
Golga4	A	G	9: 118,556,711	N967S	probably damaging	Het
Gpr155	A	T	2: 73,373,649	F274I	probably benign	Het
Grm1	A	C	10: 10,719,348	N845K	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,466,140		probably null	Het
Hsf4	G	T	8: 105,269,996	D18Y	probably null	Het
Htt	T	A	5: 34,903,331	D2774E	probably benign	Het
Iars2	A	G	1: 185,296,424	I679T	probably benign	Het
Irf4	T	C	13: 30,761,431	F387L	probably damaging	Het
Itgb5	A	G	16: 33,900,592	Y342C	probably damaging	Het
Kcnmb4	A	G	10: 116,446,394	W133R	possibly damaging	Het
Ldhc	A	T	7: 46,876,575	H271L	probably benign	Het
Lmtk2	C	A	5: 144,176,261	D1266E	probably damaging	Het
Lrrtm1	C	A	6: 77,244,824	N421K	possibly damaging	Het
Ly9	G	A	1: 171,605,019	T142I	probably benign	Het
Manba	A	G	3: 135,518,003	Y217C	probably damaging	Het
Mapkbp1	T	C	2: 120,014,628	L330P	probably damaging	Het
March2	A	T	17: 33,696,191	V143E	probably benign	Het
Mmel1	A	T	4: 154,885,021	D191V	possibly damaging	Het
Mrgpra1	A	T	7: 47,335,835	I32N	probably benign	Het
Mroh2b	C	T	15: 4,931,028	Q748*	probably null	Het
Mrpl34	T	G	8: 71,465,380	W66G	probably damaging	Het
Nde1	T	A	16: 14,183,582	S165T		Het
Nek10	T	G	14: 14,937,610	I776M	probably damaging	Het
Nell2	A	G	15: 95,383,671	S385P	probably damaging	Het
Nsf	A	T	11: 103,930,742	F29Y	possibly damaging	Het
Nsmaf	A	T	4: 6,433,320	Y133*	probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr761	A	T	17: 37,952,200	S275T	possibly damaging	Het
Pcdhb8	A	G	18: 37,356,723	I485V	probably benign	Het
Poteg	T	A	8: 27,448,005	M1K	probably null	Het
Prdm5	G	A	6: 65,883,585	V418I	possibly damaging	Het
Psmc6	T	A	14: 45,340,863	C228S	probably damaging	Het
Ptgfrn	C	T	3: 101,056,611	A562T	possibly damaging	Het
Ralgapa2	G	T	2: 146,342,219	Q1576K	probably benign	Het
Ranbp9	C	T	13: 43,414,030	G400D	probably damaging	Het
Rgs11	A	T	17: 26,204,510	I134F	probably damaging	Het
Rnf150	T	A	8: 83,036,086	C317S	probably damaging	Het
Rrm2b	G	A	15: 37,960,614		probably benign	Het
Scai	T	C	2: 39,106,966	Q272R	probably benign	Het
Sec62	C	T	3: 30,793,357	R4C	possibly damaging	Het
Sgo2b	C	A	8: 63,940,057	L115F	probably null	Het
Slc44a3	G	A	3: 121,513,807	P177S	probably damaging	Het
Slc45a4	G	A	15: 73,586,117	L528F	probably damaging	Het
Slco1a1	G	T	6: 141,911,898	A569D	probably damaging	Het
Stam2	G	T	2: 52,714,972	Q184K	probably damaging	Het
Tada2b	A	T	5: 36,483,822	L79Q	probably damaging	Het
Tecta	A	T	9: 42,373,301	D829E	probably benign	Het
Tepsin	A	G	11: 120,091,828	V472A	probably benign	Het
Tnfrsf1a	G	A	6: 125,357,725	M109I	possibly damaging	Het
Trim42	A	T	9: 97,363,222	Y508*	probably null	Het
Trmo	T	G	4: 46,387,625	N65T	probably benign	Het
Tspear	G	T	10: 77,829,637	E86*	probably null	Het
Ubr1	A	T	2: 120,904,042	S1126T	probably damaging	Het
Usp50	C	A	2: 126,780,557	D28Y	probably damaging	Het
Utp6	T	A	11: 79,951,629	I225F	probably benign	Het
Utrn	T	C	10: 12,667,607	T1766A	probably benign	Het
Vcl	T	A	14: 20,995,092	N288K	probably benign	Het
Vmn2r69	T	C	7: 85,412,455	N104D	probably benign	Het
Zc3h7b	G	A	15: 81,772,480	R166Q	probably benign	Het
Zfhx4	T	A	3: 5,390,424	S1159R	probably benign	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
R2130:Tecpr1	UTSW	5	144208645	missense	probably benign	0.01
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
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'- ACCATACAAAATCTTGGGCAAG -3'
(R):5'- CTTGCTGAGTGTGGAAGGAC -3'

Sequencing Primer
(F):5'- CTTGGGCAAGATGGTGGTG -3'
(R):5'- CTGAGTGTGGAAGGACTGGAG -3'

Posted On

2021-07-15