Mutagenetix > Incidental Mutation

Incidental Mutation 'R1786:Tecpr1'

202806

Institutional Source

Beutler Lab

Gene Symbol

Tecpr1

Ensembl Gene

ENSMUSG00000066621

Gene Name

tectonin beta-propeller repeat containing 1

Synonyms

MMRRC Submission

039817-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1786 (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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (98/101)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	T	A	13: 63,210,149 (GRCm38)	C656S	probably benign	Het
9030624J02Rik	T	C	7: 118,794,575 (GRCm38)	Y516H	probably damaging	Het
A2ml1	T	A	6: 128,576,260 (GRCm38)	N178I	probably damaging	Het
Abcc4	G	A	14: 118,553,349 (GRCm38)	R749C	probably damaging	Het
Acot11	T	C	4: 106,762,035 (GRCm38)	E201G	probably damaging	Het
Akap13	G	T	7: 75,611,434 (GRCm38)	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,644,128 (GRCm38)	V451A	probably benign	Het
Aox3	A	G	1: 58,169,843 (GRCm38)	H845R	probably damaging	Het
Asb6	G	A	2: 30,827,076 (GRCm38)	R46W	probably damaging	Het
Bpifb6	T	C	2: 153,906,861 (GRCm38)	F259S	probably damaging	Het
Cad	T	A	5: 31,058,072 (GRCm38)	F76I	probably damaging	Het
Camk2b	T	C	11: 5,977,880 (GRCm38)	E390G	probably benign	Het
Cars	C	A	7: 143,592,474 (GRCm38)	R71M	probably damaging	Het
Ccdc170	T	G	10: 4,519,043 (GRCm38)	I197S	probably benign	Het
Cdc20b	A	T	13: 113,081,134 (GRCm38)	K362N	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,122,806 (GRCm38)		probably null	Het
Cpd	T	C	11: 76,792,798 (GRCm38)	D1045G	probably benign	Het
Crocc	T	C	4: 141,021,802 (GRCm38)	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,129,077 (GRCm38)	M802L	probably damaging	Het
Dctn4	T	C	18: 60,546,335 (GRCm38)		probably null	Het
Dnah5	A	G	15: 28,313,786 (GRCm38)	Q1916R	probably damaging	Het
Dpysl2	A	G	14: 66,862,665 (GRCm38)		probably benign	Het
Dync2h1	A	G	9: 7,081,084 (GRCm38)	Y2871H	probably damaging	Het
Fam221b	T	A	4: 43,665,537 (GRCm38)	H307L	probably damaging	Het
Foxn4	C	T	5: 114,263,132 (GRCm38)	D37N	probably damaging	Het
Gemin4	G	C	11: 76,211,050 (GRCm38)	P962A	probably damaging	Het
Gm9797	T	C	10: 11,609,325 (GRCm38)		noncoding transcript	Het
Golim4	A	T	3: 75,908,149 (GRCm38)	V116D	probably damaging	Het
Gper1	C	T	5: 139,426,722 (GRCm38)	P274L	probably damaging	Het
Gpr132	A	G	12: 112,852,403 (GRCm38)	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,161,202 (GRCm38)	M21T	probably benign	Het
Hivep1	C	T	13: 42,183,786 (GRCm38)	A2447V	possibly damaging	Het
Ift20	G	A	11: 78,540,034 (GRCm38)	E68K	probably damaging	Het
Insrr	G	A	3: 87,810,572 (GRCm38)		probably null	Het
Kcnh8	T	C	17: 52,893,933 (GRCm38)	V465A	probably damaging	Het
Kif5c	T	A	2: 49,758,805 (GRCm38)		probably benign	Het
Kmt2a	G	A	9: 44,819,675 (GRCm38)		probably benign	Het
Lhx6	G	T	2: 36,087,458 (GRCm38)	C327*	probably null	Het
Lifr	A	G	15: 7,181,856 (GRCm38)	D625G	possibly damaging	Het
Llgl1	T	C	11: 60,707,240 (GRCm38)	V370A	probably benign	Het
Lman1	A	T	18: 65,991,582 (GRCm38)	M362K	probably damaging	Het
Lmtk2	C	T	5: 144,174,988 (GRCm38)	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,896,809 (GRCm38)	L227*	probably null	Het
Ltv1	C	G	10: 13,182,536 (GRCm38)		probably benign	Het
Magel2	A	T	7: 62,377,738 (GRCm38)	H130L	unknown	Het
Mettl17	A	T	14: 51,888,735 (GRCm38)		probably benign	Het
Mnx1	T	A	5: 29,474,189 (GRCm38)	S299C	unknown	Het
Mov10	A	T	3: 104,818,116 (GRCm38)	I59N	possibly damaging	Het
Myo7b	T	C	18: 31,994,897 (GRCm38)	I581V	probably benign	Het
Ncdn	T	A	4: 126,745,273 (GRCm38)		probably null	Het
Ndufa4	A	T	6: 11,900,575 (GRCm38)	V37E	probably benign	Het
Nhsl1	T	G	10: 18,524,664 (GRCm38)	L546R	probably benign	Het
Nop9	T	C	14: 55,751,142 (GRCm38)	L347P	probably damaging	Het
Nrp1	A	T	8: 128,498,516 (GRCm38)	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,477,935 (GRCm38)		probably benign	Het
Olfr341	A	G	2: 36,480,047 (GRCm38)	S28P	possibly damaging	Het
Olfr372	A	G	8: 72,058,436 (GRCm38)	Y252C	probably damaging	Het
Olfr968	A	T	9: 39,772,495 (GRCm38)	C102S	probably benign	Het
Osbpl6	T	A	2: 76,586,214 (GRCm38)	I546K	probably damaging	Het
Pard6g	T	C	18: 80,117,308 (GRCm38)	V212A	probably damaging	Het
Pknox2	A	G	9: 36,909,684 (GRCm38)	V294A	probably damaging	Het
Plekha1	T	C	7: 130,892,253 (GRCm38)	V106A	probably benign	Het
Plekha6	C	A	1: 133,279,365 (GRCm38)		probably null	Het
Ptgdr	A	T	14: 44,858,579 (GRCm38)	Y225*	probably null	Het
Ptpn22	A	G	3: 103,874,052 (GRCm38)	I90V	probably damaging	Het
Pygb	C	T	2: 150,816,772 (GRCm38)	T372I	probably damaging	Het
Pzp	T	C	6: 128,491,161 (GRCm38)		probably null	Het
Qrich2	C	T	11: 116,441,449 (GRCm38)	G2307D	probably damaging	Het
Rfwd3	A	T	8: 111,297,402 (GRCm38)	V96E	probably benign	Het
Senp1	T	A	15: 98,075,967 (GRCm38)	T132S	probably benign	Het
Slc9a4	T	G	1: 40,607,741 (GRCm38)		probably null	Het
Slfn9	T	A	11: 82,981,307 (GRCm38)	I868F	probably damaging	Het
St3gal6	T	C	16: 58,475,871 (GRCm38)	D137G	probably damaging	Het
Synj1	G	T	16: 90,964,517 (GRCm38)	A687D	probably damaging	Het
Syt4	A	G	18: 31,443,443 (GRCm38)		probably benign	Het
Tacc1	A	T	8: 25,164,493 (GRCm38)	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,624,833 (GRCm38)	T1775A	probably benign	Het
Tjp3	T	A	10: 81,278,054 (GRCm38)	M457L	possibly damaging	Het
Tmem200a	T	A	10: 25,993,927 (GRCm38)	H148L	probably damaging	Het
Trappc8	A	G	18: 20,834,940 (GRCm38)		probably null	Het
Txk	T	A	5: 72,696,579 (GRCm38)	T472S	probably damaging	Het
Ubr4	T	A	4: 139,423,945 (GRCm38)	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,061,376 (GRCm38)	L391P	probably damaging	Het
Uncx	T	C	5: 139,547,547 (GRCm38)	S456P	probably benign	Het
Vps13b	A	G	15: 35,879,791 (GRCm38)	Y3004C	probably damaging	Het
Wisp1	G	A	15: 66,906,489 (GRCm38)	C53Y	probably damaging	Het
Zbtb46	C	T	2: 181,391,431 (GRCm38)	C479Y	probably damaging	Het
Zc3h7a	A	T	16: 11,150,605 (GRCm38)	Y503*	probably null	Het
Zdhhc13	T	A	7: 48,824,644 (GRCm38)	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,621,304 (GRCm38)	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,308,005 (GRCm38)	F133L	probably damaging	Het
Zfp503	A	T	14: 21,985,520 (GRCm38)	C443S	possibly damaging	Het
Zfyve26	T	A	12: 79,268,434 (GRCm38)	I1423F	possibly damaging	Het

Other mutations in Tecpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Tecpr1	APN	5	144,208,593 (GRCm38)	critical splice donor site	probably null
IGL01774:Tecpr1	APN	5	144,211,540 (GRCm38)	missense	probably damaging	0.97
IGL01960:Tecpr1	APN	5	144,216,919 (GRCm38)	missense	probably benign	0.00
IGL01973:Tecpr1	APN	5	144,197,988 (GRCm38)	splice site	probably benign
IGL02244:Tecpr1	APN	5	144,210,003 (GRCm38)	missense	probably benign
IGL02247:Tecpr1	APN	5	144,206,554 (GRCm38)	missense	possibly damaging	0.64
IGL02423:Tecpr1	APN	5	144,203,487 (GRCm38)	missense	possibly damaging	0.88
IGL02679:Tecpr1	APN	5	144,206,546 (GRCm38)	missense	probably benign	0.28
larghissimo	UTSW	5	144,217,257 (GRCm38)	missense	probably damaging	1.00
PIT4531001:Tecpr1	UTSW	5	144,214,067 (GRCm38)	missense	probably damaging	0.96
R0121:Tecpr1	UTSW	5	144,210,199 (GRCm38)	missense	probably benign	0.02
R0125:Tecpr1	UTSW	5	144,197,899 (GRCm38)	missense	probably damaging	1.00
R0194:Tecpr1	UTSW	5	144,218,517 (GRCm38)	missense	probably damaging	1.00
R0376:Tecpr1	UTSW	5	144,207,476 (GRCm38)	missense	possibly damaging	0.94
R0441:Tecpr1	UTSW	5	144,195,941 (GRCm38)	missense	probably benign
R0504:Tecpr1	UTSW	5	144,214,081 (GRCm38)	missense	probably damaging	0.99
R0538:Tecpr1	UTSW	5	144,206,274 (GRCm38)	missense	probably damaging	0.99
R0586:Tecpr1	UTSW	5	144,217,401 (GRCm38)	missense	probably damaging	1.00
R0607:Tecpr1	UTSW	5	144,212,590 (GRCm38)	missense	probably damaging	1.00
R0608:Tecpr1	UTSW	5	144,211,499 (GRCm38)	missense	probably damaging	1.00
R0656:Tecpr1	UTSW	5	144,214,053 (GRCm38)	splice site	probably null
R0835:Tecpr1	UTSW	5	144,212,592 (GRCm38)	missense	possibly damaging	0.81
R1080:Tecpr1	UTSW	5	144,216,929 (GRCm38)	missense	probably damaging	1.00
R1394:Tecpr1	UTSW	5	144,206,539 (GRCm38)	missense	possibly damaging	0.77
R1597:Tecpr1	UTSW	5	144,214,310 (GRCm38)	missense	probably benign	0.00
R1663:Tecpr1	UTSW	5	144,197,944 (GRCm38)	missense	probably benign	0.17
R1785:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R1833:Tecpr1	UTSW	5	144,208,608 (GRCm38)	missense	probably damaging	0.99
R1883:Tecpr1	UTSW	5	144,206,529 (GRCm38)	missense	probably benign	0.03
R1988:Tecpr1	UTSW	5	144,204,697 (GRCm38)	missense	possibly damaging	0.94
R2130:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2131:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2132:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2133:Tecpr1	UTSW	5	144,208,645 (GRCm38)	missense	probably benign	0.01
R2172:Tecpr1	UTSW	5	144,211,456 (GRCm38)	missense	probably benign	0.10
R2172:Tecpr1	UTSW	5	144,196,417 (GRCm38)	missense	probably damaging	1.00
R2290:Tecpr1	UTSW	5	144,214,063 (GRCm38)	missense	probably damaging	0.99
R3691:Tecpr1	UTSW	5	144,209,979 (GRCm38)	missense	probably benign	0.10
R4027:Tecpr1	UTSW	5	144,206,259 (GRCm38)	missense	probably benign	0.41
R4587:Tecpr1	UTSW	5	144,212,590 (GRCm38)	missense	probably damaging	0.96
R4684:Tecpr1	UTSW	5	144,207,437 (GRCm38)	missense	probably benign	0.16
R4864:Tecpr1	UTSW	5	144,214,117 (GRCm38)	missense	probably benign	0.00
R4932:Tecpr1	UTSW	5	144,204,658 (GRCm38)	missense	probably damaging	0.97
R4955:Tecpr1	UTSW	5	144,217,257 (GRCm38)	missense	probably damaging	1.00
R5043:Tecpr1	UTSW	5	144,197,854 (GRCm38)	splice site	probably null
R5459:Tecpr1	UTSW	5	144,207,416 (GRCm38)	missense	probably damaging	1.00
R5579:Tecpr1	UTSW	5	144,214,344 (GRCm38)	missense	possibly damaging	0.55
R5677:Tecpr1	UTSW	5	144,218,633 (GRCm38)	nonsense	probably null
R5679:Tecpr1	UTSW	5	144,207,423 (GRCm38)	missense	possibly damaging	0.69
R5802:Tecpr1	UTSW	5	144,206,546 (GRCm38)	missense	probably benign	0.28
R6000:Tecpr1	UTSW	5	144,211,421 (GRCm38)	missense	probably benign	0.02
R6022:Tecpr1	UTSW	5	144,199,191 (GRCm38)	missense	possibly damaging	0.95
R6114:Tecpr1	UTSW	5	144,204,640 (GRCm38)	missense	possibly damaging	0.81
R6251:Tecpr1	UTSW	5	144,198,576 (GRCm38)	missense	probably damaging	0.97
R6372:Tecpr1	UTSW	5	144,216,958 (GRCm38)	missense	probably damaging	1.00
R6493:Tecpr1	UTSW	5	144,209,974 (GRCm38)	missense	probably benign
R7276:Tecpr1	UTSW	5	144,217,020 (GRCm38)	nonsense	probably null
R7314:Tecpr1	UTSW	5	144,217,332 (GRCm38)	missense	probably damaging	1.00
R7375:Tecpr1	UTSW	5	144,208,599 (GRCm38)	missense	possibly damaging	0.68
R7632:Tecpr1	UTSW	5	144,218,726 (GRCm38)	missense	probably benign	0.03
R7702:Tecpr1	UTSW	5	144,203,418 (GRCm38)	missense	probably damaging	1.00
R8135:Tecpr1	UTSW	5	144,198,602 (GRCm38)	missense	probably damaging	0.99
R8406:Tecpr1	UTSW	5	144,200,840 (GRCm38)	missense	probably damaging	1.00
R8844:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8856:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8857:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8866:Tecpr1	UTSW	5	144,216,299 (GRCm38)	missense	possibly damaging	0.94
R8903:Tecpr1	UTSW	5	144,214,027 (GRCm38)	intron	probably benign
R8926:Tecpr1	UTSW	5	144,216,962 (GRCm38)	missense	probably damaging	1.00
R9218:Tecpr1	UTSW	5	144,217,231 (GRCm38)	missense	possibly damaging	0.70
R9423:Tecpr1	UTSW	5	144,218,578 (GRCm38)	missense	probably damaging	0.98
RF001:Tecpr1	UTSW	5	144,217,386 (GRCm38)	missense	probably damaging	0.99
Z1176:Tecpr1	UTSW	5	144,218,591 (GRCm38)	missense	probably benign	0.28

Predicted Primers

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

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

Posted On

2014-06-23