Mutagenetix > Incidental Mutation

Incidental Mutation 'R1663:Tecpr1'

186922

Institutional Source

Beutler Lab

Gene Symbol

Tecpr1

Ensembl Gene

ENSMUSG00000066621

Gene Name

tectonin beta-propeller repeat containing 1

Synonyms

MMRRC Submission

039699-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1663 (G1)

Quality Score

208

Status

Not validated

Chromosome

Chromosomal Location

144194442-144223615 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 144197944 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1040 (K1040N)

Ref Sequence

ENSEMBL: ENSMUSP00000082844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060747] [ENSMUST00000085701]

AlphaFold

Q80VP0

Predicted Effect

probably benign
Transcript: ENSMUST00000060747

SMART Domains

Protein: ENSMUSP00000055493
Gene: ENSMUSG00000052271

Domain	Start	End	E-Value	Type
low complexity region	6	13	N/A	INTRINSIC
low complexity region	41	67	N/A	INTRINSIC
HLH	78	130	1.61e-18	SMART
low complexity region	136	148	N/A	INTRINSIC
low complexity region	151	166	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085701
AA Change: K1040N

PolyPhen 2 Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: K1040N

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: ENSMUST00000125672

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147992

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151479

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153103

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	T	A	8: 24,687,933	T11S	probably benign	Het
Adgb	T	C	10: 10,339,675	M1529V	possibly damaging	Het
Ankrd36	T	A	11: 5,620,126	D531E	possibly damaging	Het
Ankzf1	C	T	1: 75,196,270	P337S	probably damaging	Het
Apc	A	G	18: 34,268,325	I55V	probably damaging	Het
Aplnr	A	G	2: 85,136,694	D21G	possibly damaging	Het
Apol10b	A	T	15: 77,588,714	F47I	probably damaging	Het
Arhgef5	G	A	6: 43,276,965	A1131T	probably damaging	Het
Arrb2	A	T	11: 70,437,603	Q83L	probably damaging	Het
Atf7ip	A	G	6: 136,603,324	Q1082R	possibly damaging	Het
Atl2	A	G	17: 79,864,711	S28P	probably damaging	Het
Brd7	T	C	8: 88,358,023	K89E	possibly damaging	Het
Cc2d1b	A	G	4: 108,623,547	T55A	probably damaging	Het
Ccdc18	A	G	5: 108,216,090	E1217G	probably damaging	Het
Cdc42ep4	A	T	11: 113,729,451	M38K	probably damaging	Het
Cldn14	A	G	16: 93,919,278	S227P	probably damaging	Het
Clspn	T	A	4: 126,565,975	C332S	probably benign	Het
Col5a1	T	C	2: 27,951,476	S370P	unknown	Het
Comp	T	C	8: 70,373,600	L10P	possibly damaging	Het
Dcc	A	T	18: 71,826,052	N216K	probably damaging	Het
Dcstamp	C	T	15: 39,754,944	Q250*	probably null	Het
Drd5	T	C	5: 38,320,855	F397S	probably benign	Het
Dst	T	C	1: 34,163,385	S265P	probably damaging	Het
Enam	A	T	5: 88,503,994	S1046C	probably damaging	Het
Eno3	T	C	11: 70,662,274		probably null	Het
Fam13a	G	A	6: 58,954,372	R408*	probably null	Het
Gipc2	T	A	3: 152,094,164	M310L	probably benign	Het
Gm14496	T	C	2: 181,997,437	V440A	probably benign	Het
Gzmg	A	T	14: 56,156,808	C210S	probably damaging	Het
Helb	G	T	10: 120,105,433	A450E	probably damaging	Het
Hepacam2	A	T	6: 3,483,439	I190N	possibly damaging	Het
Hk3	A	T	13: 55,006,575	S773T	probably benign	Het
Hnrnpc	A	G	14: 52,075,395	S221P	probably damaging	Het
Ifna9	T	C	4: 88,591,983	T135A	probably benign	Het
Igfn1	C	T	1: 135,968,308	G1507R	probably benign	Het
Kank3	A	G	17: 33,818,375	T218A	probably benign	Het
Kcp	G	T	6: 29,498,965	R337S	possibly damaging	Het
Krt74	A	T	15: 101,756,674		noncoding transcript	Het
Lrp1	A	T	10: 127,556,921	D2758E	probably damaging	Het
Ly75	T	C	2: 60,314,234	E1295G	probably damaging	Het
Mccc1	C	A	3: 35,978,933	W354L	probably damaging	Het
Mmp1a	C	T	9: 7,465,656	T198M	probably benign	Het
Mtmr2	C	T	9: 13,803,501	T519I	probably damaging	Het
Nbea	A	G	3: 55,645,986	S2632P	possibly damaging	Het
Nbn	T	A	4: 15,970,903	D295E	probably benign	Het
Ndufb8	T	C	19: 44,550,381	Y167C	probably damaging	Het
Nisch	A	G	14: 31,191,521		probably benign	Het
Notch3	C	T	17: 32,156,119	G407D	probably damaging	Het
Nucb1	A	G	7: 45,498,864	F175S	probably damaging	Het
Olfr355	T	G	2: 36,927,334	Y260S	probably damaging	Het
Olfr804	G	A	10: 129,705,291	V138M	probably benign	Het
Olfr834	T	A	9: 18,988,710	C241S	probably damaging	Het
Olfr907	T	G	9: 38,499,572	I301R	unknown	Het
Pip5k1c	T	C	10: 81,312,515	V425A	probably damaging	Het
Pnisr	T	A	4: 21,873,857		probably benign	Het
Prkag1	A	G	15: 98,815,895	V18A	probably damaging	Het
Rad50	T	C	11: 53,668,223	N1063S	probably benign	Het
Rnf170	C	T	8: 26,129,143	H132Y	probably damaging	Het
Rnf213	A	G	11: 119,437,672	D1977G	probably benign	Het
Sema3a	G	A	5: 13,557,125		probably null	Het
Setx	T	A	2: 29,126,905	C7S	probably damaging	Het
Slc23a2	A	G	2: 132,065,464	I417T	probably damaging	Het
Spink6	T	G	18: 44,071,521	F18C	unknown	Het
Sptbn1	T	C	11: 30,120,783	Q1538R	possibly damaging	Het
Strn3	A	G	12: 51,652,826	Y188H	probably damaging	Het
Tll1	T	A	8: 64,017,686	Y901F	probably benign	Het
Tmem81	C	T	1: 132,507,897	A147V	probably benign	Het
Tnpo3	T	C	6: 29,565,759	D532G	probably benign	Het
Vmn2r19	T	A	6: 123,336,452	I827N	probably benign	Het
Wdr35	A	G	12: 9,020,000	K857R	probably benign	Het
Wdr60	T	C	12: 116,229,610	Q574R	probably benign	Het
Zfp110	A	G	7: 12,848,642	T406A	probably benign	Het
Zfp52	T	C	17: 21,561,822	L644P	possibly damaging	Het
Zfp605	G	A	5: 110,127,585	V190I	probably benign	Het
Zfp964	A	G	8: 69,664,083		probably null	Het
Zmynd8	A	G	2: 165,807,885	S779P	probably benign	Het
Zswim5	T	A	4: 116,986,895	N1043K	probably damaging	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
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
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'- GGCTTCTGACAGTCACGGCTTAAAC -3'
(R):5'- AGCCCCAGCCACACATTTGTTC -3'

Sequencing Primer
(F):5'- ACCTGGACACTTCTAAAGGATG -3'
(R):5'- AGCGTTAGAGCACTGGATAGG -3'

Posted On

2014-05-09