Mutagenetix > Incidental Mutation

Incidental Mutation 'R3691:Tecpr1'

268777

Institutional Source

Beutler Lab

Gene Symbol

Tecpr1

Ensembl Gene

ENSMUSG00000066621

Gene Name

tectonin beta-propeller repeat containing 1

Synonyms

2210010N04Rik

MMRRC Submission

040686-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3691 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

144131260-144160433 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 144146797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 523 (F523S)

Ref Sequence

ENSEMBL: ENSMUSP00000082844 (fasta)

Gene Model

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

AlphaFold

Q80VP0

Predicted Effect

probably benign
Transcript: ENSMUST00000085701
AA Change: F523S

PolyPhen 2 Score 0.105 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000082844
Gene: ENSMUSG00000066621
AA Change: F523S

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (34/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,108,671 (GRCm39)	E1398G	probably damaging	Het
Avl9	C	T	6: 56,713,812 (GRCm39)	H357Y	probably benign	Het
Best2	A	G	8: 85,737,883 (GRCm39)	F171L	probably benign	Het
Btbd19	A	T	4: 116,977,789 (GRCm39)		probably benign	Het
Cap1	A	G	4: 122,758,419 (GRCm39)	S254P	probably damaging	Het
Cfap43	G	A	19: 47,885,512 (GRCm39)	L368F	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
Cog3	T	C	14: 75,991,878 (GRCm39)	M1V	probably null	Het
Drosha	G	A	15: 12,834,724 (GRCm39)	R276H	unknown	Het
Efr3b	T	A	12: 4,032,059 (GRCm39)	D183V	possibly damaging	Het
Epha1	T	C	6: 42,338,064 (GRCm39)	T794A	probably damaging	Het
Fbxo17	G	A	7: 28,436,887 (GRCm39)	V281I	probably damaging	Het
Flii	T	C	11: 60,610,583 (GRCm39)	Y571C	probably benign	Het
Flywch1	G	A	17: 23,982,186 (GRCm39)	P6L	probably damaging	Het
Foxj3	T	C	4: 119,473,839 (GRCm39)		probably benign	Het
Fras1	C	T	5: 96,929,371 (GRCm39)	T3925I	probably benign	Het
Gk5	T	C	9: 96,011,149 (GRCm39)		probably null	Het
Gm12588	T	G	11: 121,796,751 (GRCm39)	Q366P	possibly damaging	Het
Gm3248	A	G	14: 5,943,068 (GRCm38)	I161T	probably damaging	Het
Gzmg	T	A	14: 56,395,134 (GRCm39)		probably benign	Het
Lrrc69	A	T	4: 14,795,980 (GRCm39)	N22K	possibly damaging	Het
Med13l	A	G	5: 118,859,562 (GRCm39)	R250G	probably benign	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mxi1	T	C	19: 53,358,062 (GRCm39)	L73P	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
Napb	T	C	2: 148,544,977 (GRCm39)		probably null	Het
Nsun2	A	G	13: 69,760,456 (GRCm39)	N45D	probably damaging	Het
Or10ag2	T	C	2: 87,248,514 (GRCm39)	F39L	probably benign	Het
Oxct1	A	G	15: 4,076,999 (GRCm39)	M111V	probably benign	Het
Pcnx4	A	G	12: 72,620,493 (GRCm39)	D771G	probably damaging	Het
Serpina6	T	C	12: 103,620,668 (GRCm39)	D27G	probably benign	Het
Zan	A	G	5: 137,418,281 (GRCm39)	I2939T	unknown	Het
Zfc3h1	A	G	10: 115,256,595 (GRCm39)	T1522A	probably benign	Het

Other mutations in Tecpr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01399:Tecpr1	APN	5	144,145,411 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TCACAGAGTCTTGAGGCAGG -3'
(R):5'- CTGATCACTCCACGGAGAAC -3'

Sequencing Primer
(F):5'- TCTTGAGGCAGGGGGTAAGC -3'
(R):5'- AGAACGCCTGCCTGACTGAAG -3'

Posted On

2015-02-19