Mutagenetix > Incidental Mutation

Incidental Mutation 'R6000:Tecpr1'

480775

Institutional Source

Beutler Lab

Gene Symbol

Tecpr1

Ensembl Gene

ENSMUSG00000066621

Gene Name

tectonin beta-propeller repeat containing 1

Synonyms

MMRRC Submission

044179-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6000 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

144194442-144223615 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144211421 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 389 (S389P)

Ref Sequence

ENSEMBL: ENSMUSP00000082844 (fasta)

Gene Model

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

AlphaFold

Q80VP0

Predicted Effect

probably benign
Transcript: ENSMUST00000085701
AA Change: S389P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: S389P

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

0.0635

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.4%
20x: 91.7%

Validation Efficiency

100% (64/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	T	C	16: 88,759,539	C214R	possibly damaging	Het
5430403G16Rik	A	G	5: 109,676,864	V240A	probably benign	Het
Ahnak	A	T	19: 9,013,111	K3920*	probably null	Het
Alox12b	A	G	11: 69,169,568	D650G	probably damaging	Het
Amt	A	T	9: 108,301,485	Y400F	probably benign	Het
Ankrd11	A	G	8: 122,891,195	S1973P	possibly damaging	Het
Aoc1	A	T	6: 48,907,639	T539S	probably benign	Het
Arhgap44	CTGCT	CTGCTTGCT	11: 65,032,084		probably null	Het
Ccdc15	C	T	9: 37,315,764	G292S	probably benign	Het
Ccdc162	C	T	10: 41,561,163	C287Y	possibly damaging	Het
Cdk15	G	A	1: 59,289,659	G244D	probably damaging	Het
Cep290	T	A	10: 100,541,787	Y1560N	probably damaging	Het
Cic	A	C	7: 25,271,998	I385L	probably benign	Het
Cobl	A	T	11: 12,369,684	F231L	probably benign	Het
Cpeb1	T	C	7: 81,361,680	D171G	possibly damaging	Het
Csnk1g2	T	A	10: 80,638,944	V305E	probably damaging	Het
Cyp2c29	A	G	19: 39,307,606		probably null	Het
Dner	A	T	1: 84,383,929	M653K	possibly damaging	Het
Dst	T	A	1: 34,212,223	M4311K	possibly damaging	Het
Ep400	A	G	5: 110,683,201	S2200P	unknown	Het
Ephb2	A	T	4: 136,684,030	S440T	possibly damaging	Het
Ercc1	A	T	7: 19,347,161		probably benign	Het
Folh1	T	A	7: 86,725,934	N615Y	probably benign	Het
Gm35911	G	T	5: 99,941,367	A164S	probably benign	Het
Gm7298	T	C	6: 121,765,079	Y487H	possibly damaging	Het
Gucy1b2	A	T	14: 62,419,050	I286N	probably benign	Het
Hr	A	G	14: 70,567,833	D1005G	probably damaging	Het
Ifrd1	C	A	12: 40,216,244	V117F	possibly damaging	Het
Ift140	A	T	17: 25,036,960	T210S	probably benign	Het
Igll1	C	A	16: 16,863,941		probably benign	Het
Ino80	G	T	2: 119,374,508	S1512R	probably benign	Het
Intu	A	T	3: 40,654,148	K197*	probably null	Het
Kdm6b	A	G	11: 69,403,598	L1216P	unknown	Het
Klrb1c	T	G	6: 128,784,157	D169A	probably damaging	Het
Lamp3	T	A	16: 19,700,948	T162S	possibly damaging	Het
Mapk10	G	A	5: 102,966,475	P319L	probably damaging	Het
Mapk10	G	A	5: 102,966,476	P319S	probably damaging	Het
Mical3	T	C	6: 121,021,320	T702A	probably benign	Het
Mstn	C	T	1: 53,061,669		probably benign	Het
Nckap1l	T	C	15: 103,478,815	S706P	probably benign	Het
Nckap5l	G	A	15: 99,426,885	T579I	probably damaging	Het
Olfr1197	C	A	2: 88,729,231	A123S	probably damaging	Het
Olfr1341	A	T	4: 118,710,244	N279I	probably damaging	Het
Olfr285	G	A	15: 98,313,436	T38I	probably benign	Het
Pcdh18	A	C	3: 49,754,464	S801A	probably damaging	Het
Pde11a	A	T	2: 76,017,860	D874E	probably damaging	Het
Pfdn6	G	T	17: 33,939,615	P62T	probably damaging	Het
Pkd1l1	A	G	11: 8,950,427	I38T	probably benign	Het
Prkdc	A	T	16: 15,829,697	I3662F	possibly damaging	Het
Psg26	A	T	7: 18,482,692	L74*	probably null	Het
Rassf6	A	G	5: 90,603,877	V341A	probably damaging	Het
Rsad2	C	A	12: 26,447,151		probably null	Het
Rwdd3	A	G	3: 121,156,513	Y95H	probably damaging	Het
Scfd1	A	G	12: 51,445,674	I589V	possibly damaging	Het
Sgsm1	A	T	5: 113,286,838	I131N	probably damaging	Het
Tle3	T	A	9: 61,374,014	I29N	probably damaging	Het
Tmem63c	C	A	12: 87,057,197	N73K	probably damaging	Het
Tpm2	T	A	4: 43,518,301		probably null	Het
Trak2	A	T	1: 58,911,812	D405E	possibly damaging	Het
Ttn	C	A	2: 76,745,172	A23380S	probably damaging	Het
Ttn	A	T	2: 76,885,151		probably benign	Het
Tub	T	C	7: 109,029,650	S391P	probably damaging	Het
Ush2a	G	T	1: 188,267,026	E178*	probably null	Het
Wdr66	A	G	5: 123,254,372		probably benign	Het
Wisp3	T	C	10: 39,158,300	Y102C	probably damaging	Het
Ylpm1	C	A	12: 84,997,256	T256K	unknown	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
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'- TCGACGGAGGTAATAATGTCTG -3'
(R):5'- TAGGAGTCCAACTATGTGCCC -3'

Sequencing Primer
(F):5'- ATAATGTCTGTAGACCGCCTAGC -3'
(R):5'- AGTCCAACTATGTGCCCAGCTG -3'

Posted On

2017-06-26