Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01399:Tecpr1'

79591

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tecpr1

Ensembl Gene

ENSMUSG00000066621

Gene Name

tectonin beta-propeller repeat containing 1

Synonyms

2210010N04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01399

Quality Score

Status

Chromosome

Chromosomal Location

144131260-144160433 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 144145411 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000082844 (fasta)

Gene Model

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

AlphaFold

Q80VP0

Predicted Effect

probably null
Transcript: ENSMUST00000085701

SMART Domains

Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621

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

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apol11b	G	A	15: 77,522,219 (GRCm39)	T26M	probably damaging	Het
Asic4	T	A	1: 75,445,790 (GRCm39)	N206K	possibly damaging	Het
Bsn	A	G	9: 107,984,386 (GRCm39)	Y3223H	unknown	Het
Btaf1	C	T	19: 36,977,570 (GRCm39)	R1463*	probably null	Het
Ccdc146	A	G	5: 21,499,611 (GRCm39)	I857T	possibly damaging	Het
Ccnf	G	A	17: 24,443,986 (GRCm39)	S594L	probably damaging	Het
Chd5	T	C	4: 152,441,144 (GRCm39)	W195R	probably damaging	Het
Cntn1	A	G	15: 92,203,025 (GRCm39)	Y769C	probably damaging	Het
Cwc22	T	C	2: 77,747,408 (GRCm39)	E435G	probably benign	Het
Dct	A	G	14: 118,273,890 (GRCm39)	F339S	probably damaging	Het
Ddx54	G	T	5: 120,761,968 (GRCm39)	E554*	probably null	Het
Dock3	G	T	9: 106,870,670 (GRCm39)	S581R	probably benign	Het
Dst	A	G	1: 34,156,598 (GRCm39)	H176R	probably benign	Het
Emc8	A	G	8: 121,385,745 (GRCm39)	M123T	probably damaging	Het
Evc	T	A	5: 37,490,357 (GRCm39)	D55V	probably damaging	Het
Gm5424	A	G	10: 61,907,272 (GRCm39)		noncoding transcript	Het
Gpr149	A	T	3: 62,511,852 (GRCm39)	L49Q	probably damaging	Het
Hcfc1	C	T	X: 72,993,515 (GRCm39)	V1217I	possibly damaging	Het
Hoxa4	G	T	6: 52,167,393 (GRCm39)	Q263K	probably damaging	Het
Ift172	T	C	5: 31,423,592 (GRCm39)	E790G	probably benign	Het
Ipp	A	G	4: 116,372,384 (GRCm39)	N138D	probably damaging	Het
Isg20	A	T	7: 78,569,836 (GRCm39)	T158S	possibly damaging	Het
Klf17	A	G	4: 117,616,356 (GRCm39)	F325S	probably damaging	Het
Lilrb4a	T	C	10: 51,370,161 (GRCm39)	L233P	probably benign	Het
Malrd1	G	A	2: 16,106,768 (GRCm39)		probably null	Het
Myh9	A	T	15: 77,651,470 (GRCm39)	L1544Q	probably damaging	Het
Nexmif	T	A	X: 103,130,786 (GRCm39)	D377V	probably damaging	Het
Nobox	T	C	6: 43,280,972 (GRCm39)	T501A	probably benign	Het
Noc3l	T	C	19: 38,804,099 (GRCm39)	D93G	possibly damaging	Het
Nrcam	G	T	12: 44,622,667 (GRCm39)	A938S	probably benign	Het
Nup205	T	C	6: 35,196,624 (GRCm39)	I1120T	possibly damaging	Het
Or5b96	A	T	19: 12,867,803 (GRCm39)	M46K	probably benign	Het
Or5h18	C	T	16: 58,847,629 (GRCm39)	V214I	probably benign	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Selenof	C	T	3: 144,302,669 (GRCm39)	T148I	probably damaging	Het
Sgce	C	A	6: 4,746,997 (GRCm39)	G31V	probably damaging	Het
Slc35e1	C	A	8: 73,238,534 (GRCm39)	A325S	probably damaging	Het
Slc4a4	A	G	5: 89,376,794 (GRCm39)	D1016G	probably damaging	Het
Synj2	T	G	17: 6,060,046 (GRCm39)	C149W	probably damaging	Het
Utp20	A	G	10: 88,594,164 (GRCm39)		probably null	Het
Vmn2r63	T	A	7: 42,553,543 (GRCm39)	K571M	probably damaging	Het
Wdr53	A	G	16: 32,070,718 (GRCm39)	D21G	possibly damaging	Het
Zbtb3	T	C	19: 8,780,819 (GRCm39)	L144S	probably damaging	Het
Zfp185	T	A	X: 72,043,654 (GRCm39)	S154T	probably damaging	Het

Other mutations in Tecpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01774:Tecpr1	APN	5	144,148,358 (GRCm39)	missense	probably damaging	0.97
IGL01960:Tecpr1	APN	5	144,153,737 (GRCm39)	missense	probably benign	0.00
IGL01973:Tecpr1	APN	5	144,134,806 (GRCm39)	splice site	probably benign
IGL02244:Tecpr1	APN	5	144,146,821 (GRCm39)	missense	probably benign
IGL02247:Tecpr1	APN	5	144,143,372 (GRCm39)	missense	possibly damaging	0.64
IGL02423:Tecpr1	APN	5	144,140,305 (GRCm39)	missense	possibly damaging	0.88
IGL02679:Tecpr1	APN	5	144,143,364 (GRCm39)	missense	probably benign	0.28
larghissimo	UTSW	5	144,154,075 (GRCm39)	missense	probably damaging	1.00
PIT4531001:Tecpr1	UTSW	5	144,150,885 (GRCm39)	missense	probably damaging	0.96
R0121:Tecpr1	UTSW	5	144,147,017 (GRCm39)	missense	probably benign	0.02
R0125:Tecpr1	UTSW	5	144,134,717 (GRCm39)	missense	probably damaging	1.00
R0194:Tecpr1	UTSW	5	144,155,335 (GRCm39)	missense	probably damaging	1.00
R0376:Tecpr1	UTSW	5	144,144,294 (GRCm39)	missense	possibly damaging	0.94
R0441:Tecpr1	UTSW	5	144,132,759 (GRCm39)	missense	probably benign
R0504:Tecpr1	UTSW	5	144,150,899 (GRCm39)	missense	probably damaging	0.99
R0538:Tecpr1	UTSW	5	144,143,092 (GRCm39)	missense	probably damaging	0.99
R0586:Tecpr1	UTSW	5	144,154,219 (GRCm39)	missense	probably damaging	1.00
R0607:Tecpr1	UTSW	5	144,149,408 (GRCm39)	missense	probably damaging	1.00
R0608:Tecpr1	UTSW	5	144,148,317 (GRCm39)	missense	probably damaging	1.00
R0656:Tecpr1	UTSW	5	144,150,871 (GRCm39)	splice site	probably null
R0835:Tecpr1	UTSW	5	144,149,410 (GRCm39)	missense	possibly damaging	0.81
R1080:Tecpr1	UTSW	5	144,153,747 (GRCm39)	missense	probably damaging	1.00
R1394:Tecpr1	UTSW	5	144,143,357 (GRCm39)	missense	possibly damaging	0.77
R1597:Tecpr1	UTSW	5	144,151,128 (GRCm39)	missense	probably benign	0.00
R1663:Tecpr1	UTSW	5	144,134,762 (GRCm39)	missense	probably benign	0.17
R1785:Tecpr1	UTSW	5	144,145,463 (GRCm39)	missense	probably benign	0.01
R1786:Tecpr1	UTSW	5	144,145,463 (GRCm39)	missense	probably benign	0.01
R1833:Tecpr1	UTSW	5	144,145,426 (GRCm39)	missense	probably damaging	0.99
R1883:Tecpr1	UTSW	5	144,143,347 (GRCm39)	missense	probably benign	0.03
R1988:Tecpr1	UTSW	5	144,141,515 (GRCm39)	missense	possibly damaging	0.94
R2130:Tecpr1	UTSW	5	144,145,463 (GRCm39)	missense	probably benign	0.01
R2131:Tecpr1	UTSW	5	144,145,463 (GRCm39)	missense	probably benign	0.01
R2132:Tecpr1	UTSW	5	144,145,463 (GRCm39)	missense	probably benign	0.01
R2133:Tecpr1	UTSW	5	144,145,463 (GRCm39)	missense	probably benign	0.01
R2172:Tecpr1	UTSW	5	144,148,274 (GRCm39)	missense	probably benign	0.10
R2172:Tecpr1	UTSW	5	144,133,235 (GRCm39)	missense	probably damaging	1.00
R2290:Tecpr1	UTSW	5	144,150,881 (GRCm39)	missense	probably damaging	0.99
R3691:Tecpr1	UTSW	5	144,146,797 (GRCm39)	missense	probably benign	0.10
R4027:Tecpr1	UTSW	5	144,143,077 (GRCm39)	missense	probably benign	0.41
R4587:Tecpr1	UTSW	5	144,149,408 (GRCm39)	missense	probably damaging	0.96
R4684:Tecpr1	UTSW	5	144,144,255 (GRCm39)	missense	probably benign	0.16
R4864:Tecpr1	UTSW	5	144,150,935 (GRCm39)	missense	probably benign	0.00
R4932:Tecpr1	UTSW	5	144,141,476 (GRCm39)	missense	probably damaging	0.97
R4955:Tecpr1	UTSW	5	144,154,075 (GRCm39)	missense	probably damaging	1.00
R5043:Tecpr1	UTSW	5	144,134,672 (GRCm39)	splice site	probably null
R5459:Tecpr1	UTSW	5	144,144,234 (GRCm39)	missense	probably damaging	1.00
R5579:Tecpr1	UTSW	5	144,151,162 (GRCm39)	missense	possibly damaging	0.55
R5677:Tecpr1	UTSW	5	144,155,451 (GRCm39)	nonsense	probably null
R5679:Tecpr1	UTSW	5	144,144,241 (GRCm39)	missense	possibly damaging	0.69
R5802:Tecpr1	UTSW	5	144,143,364 (GRCm39)	missense	probably benign	0.28
R6000:Tecpr1	UTSW	5	144,148,239 (GRCm39)	missense	probably benign	0.02
R6022:Tecpr1	UTSW	5	144,136,009 (GRCm39)	missense	possibly damaging	0.95
R6114:Tecpr1	UTSW	5	144,141,458 (GRCm39)	missense	possibly damaging	0.81
R6251:Tecpr1	UTSW	5	144,135,394 (GRCm39)	missense	probably damaging	0.97
R6372:Tecpr1	UTSW	5	144,153,776 (GRCm39)	missense	probably damaging	1.00
R6493:Tecpr1	UTSW	5	144,146,792 (GRCm39)	missense	probably benign
R7276:Tecpr1	UTSW	5	144,153,838 (GRCm39)	nonsense	probably null
R7314:Tecpr1	UTSW	5	144,154,150 (GRCm39)	missense	probably damaging	1.00
R7375:Tecpr1	UTSW	5	144,145,417 (GRCm39)	missense	possibly damaging	0.68
R7632:Tecpr1	UTSW	5	144,155,544 (GRCm39)	missense	probably benign	0.03
R7702:Tecpr1	UTSW	5	144,140,236 (GRCm39)	missense	probably damaging	1.00
R8135:Tecpr1	UTSW	5	144,135,420 (GRCm39)	missense	probably damaging	0.99
R8406:Tecpr1	UTSW	5	144,137,658 (GRCm39)	missense	probably damaging	1.00
R8844:Tecpr1	UTSW	5	144,153,117 (GRCm39)	missense	possibly damaging	0.94
R8856:Tecpr1	UTSW	5	144,153,117 (GRCm39)	missense	possibly damaging	0.94
R8857:Tecpr1	UTSW	5	144,153,117 (GRCm39)	missense	possibly damaging	0.94
R8866:Tecpr1	UTSW	5	144,153,117 (GRCm39)	missense	possibly damaging	0.94
R8903:Tecpr1	UTSW	5	144,150,845 (GRCm39)	intron	probably benign
R8926:Tecpr1	UTSW	5	144,153,780 (GRCm39)	missense	probably damaging	1.00
R9218:Tecpr1	UTSW	5	144,154,049 (GRCm39)	missense	possibly damaging	0.70
R9423:Tecpr1	UTSW	5	144,155,396 (GRCm39)	missense	probably damaging	0.98
RF001:Tecpr1	UTSW	5	144,154,204 (GRCm39)	missense	probably damaging	0.99
Z1176:Tecpr1	UTSW	5	144,155,409 (GRCm39)	missense	probably benign	0.28

Posted On

2013-11-05