Mutagenetix > Incidental Mutation

Incidental Mutation 'R6749:Tektl1'

532895

Institutional Source

Beutler Lab

Gene Symbol

Tektl1

Ensembl Gene

ENSMUSG00000078442

Gene Name

tektin like 1

Synonyms

Ccdc105, 4931413A09Rik

MMRRC Submission

044866-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R6749 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78582760-78588899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 78588672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 46 (M46R)

Ref Sequence

ENSEMBL: ENSMUSP00000101022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105383]

AlphaFold

Q9D4K7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105383
AA Change: M46R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101022
Gene: ENSMUSG00000078442
AA Change: M46R

Domain	Start	End	E-Value	Type
Pfam:Tektin	115	470	1.6e-19	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,600 (GRCm39)	V875A	possibly damaging	Het
Arhgef15	A	T	11: 68,845,383 (GRCm39)	F156L	probably damaging	Het
Bdh2	T	A	3: 135,006,452 (GRCm39)	S184T	probably damaging	Het
Bmp5	A	T	9: 75,683,375 (GRCm39)	M1L	probably benign	Het
Cacfd1	T	C	2: 26,908,467 (GRCm39)	Y134H	probably damaging	Het
Camk1	G	A	6: 113,311,486 (GRCm39)	P340L	probably benign	Het
Cdc14a	T	C	3: 116,090,807 (GRCm39)	H424R	possibly damaging	Het
Cntfr	T	A	4: 41,663,232 (GRCm39)	T192S	possibly damaging	Het
Erbin	G	T	13: 103,970,885 (GRCm39)	S910R	probably damaging	Het
Esrp1	A	T	4: 11,357,519 (GRCm39)	V366E	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fsip2	T	A	2: 82,808,738 (GRCm39)	S1686T	possibly damaging	Het
Gata5	A	G	2: 179,976,143 (GRCm39)	L7S	probably damaging	Het
Hgf	T	A	5: 16,818,640 (GRCm39)		probably null	Het
Ift140	A	G	17: 25,317,890 (GRCm39)	E1458G	probably damaging	Het
Ift57	G	A	16: 49,581,347 (GRCm39)	G209R	probably benign	Het
Il12rb2	G	T	6: 67,338,950 (GRCm39)		probably benign	Het
Krt78	G	A	15: 101,859,358 (GRCm39)	R280C	probably damaging	Het
Lipc	A	G	9: 70,730,668 (GRCm39)	I88T	probably damaging	Het
Lrmda	G	T	14: 22,077,344 (GRCm39)	R27L	probably benign	Het
Lrrc37a	T	G	11: 103,392,923 (GRCm39)	E834A	probably benign	Het
Mmachc	C	A	4: 116,561,738 (GRCm39)	R132L	probably damaging	Het
Myo10	T	C	15: 25,714,196 (GRCm39)	Y88H	probably damaging	Het
Myo5b	G	A	18: 74,834,574 (GRCm39)	R878Q	possibly damaging	Het
Or2y1f	A	G	11: 49,184,877 (GRCm39)	H243R	probably damaging	Het
Padi3	T	C	4: 140,523,164 (GRCm39)	T289A	possibly damaging	Het
Pcdhgb4	G	T	18: 37,854,282 (GRCm39)	A226S	possibly damaging	Het
Pde4c	T	C	8: 71,198,659 (GRCm39)	V167A	probably damaging	Het
Pigr	A	G	1: 130,774,285 (GRCm39)	T422A	probably benign	Het
Pmp2	T	C	3: 10,247,542 (GRCm39)	Y49C	probably benign	Het
Prpf39	A	G	12: 65,103,048 (GRCm39)	I441V	possibly damaging	Het
Ptprs	A	G	17: 56,744,884 (GRCm39)	V284A	probably damaging	Het
Rsad1	T	C	11: 94,434,166 (GRCm39)	E354G	probably damaging	Het
Sema4b	T	A	7: 79,869,949 (GRCm39)	D412E	possibly damaging	Het
Siglecg	A	G	7: 43,058,403 (GRCm39)	I97V	probably benign	Het
Slc4a3	C	T	1: 75,531,182 (GRCm39)	R792*	probably null	Het
Slc6a20a	A	G	9: 123,466,135 (GRCm39)	C569R	probably damaging	Het
Spata19	T	C	9: 27,309,276 (GRCm39)	V59A	probably benign	Het
Sult2a3	T	A	7: 13,816,629 (GRCm39)	Y183F	probably benign	Het
Tedc1	C	T	12: 113,121,702 (GRCm39)	T194M	probably damaging	Het
Tmem63c	T	A	12: 87,122,439 (GRCm39)	N412K	probably damaging	Het
Trav5-1	T	C	14: 52,860,402 (GRCm39)	I69T	possibly damaging	Het
Trim68	T	C	7: 102,327,990 (GRCm39)	D321G	probably damaging	Het
Ttn	T	C	2: 76,695,600 (GRCm39)		probably benign	Het
Vars2	A	G	17: 35,977,605 (GRCm39)	V109A	probably damaging	Het
Vmn2r96	C	T	17: 18,818,352 (GRCm39)	P643L	probably damaging	Het
Zfpm2	G	T	15: 40,818,104 (GRCm39)	V146F	possibly damaging	Het
Znfx1	T	C	2: 166,898,519 (GRCm39)	K135R	probably benign	Het

Other mutations in Tektl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00858:Tektl1	APN	10	78,586,403 (GRCm39)	missense	probably damaging	1.00
IGL01632:Tektl1	APN	10	78,584,536 (GRCm39)	missense	probably benign	0.01
IGL02473:Tektl1	APN	10	78,586,428 (GRCm39)	missense	probably benign	0.05
IGL02606:Tektl1	APN	10	78,584,300 (GRCm39)	missense	probably benign	0.01
IGL03356:Tektl1	APN	10	78,582,966 (GRCm39)	missense	possibly damaging	0.52
R0096:Tektl1	UTSW	10	78,584,539 (GRCm39)	missense	probably benign	0.01
R0096:Tektl1	UTSW	10	78,584,539 (GRCm39)	missense	probably benign	0.01
R0666:Tektl1	UTSW	10	78,586,381 (GRCm39)	missense	probably benign	0.04
R1756:Tektl1	UTSW	10	78,583,031 (GRCm39)	missense	probably damaging	0.96
R1757:Tektl1	UTSW	10	78,583,058 (GRCm39)	missense	probably benign	0.02
R1765:Tektl1	UTSW	10	78,584,502 (GRCm39)	missense	probably benign	0.21
R1956:Tektl1	UTSW	10	78,586,373 (GRCm39)	critical splice donor site	probably null
R2305:Tektl1	UTSW	10	78,584,336 (GRCm39)	missense	probably damaging	1.00
R3802:Tektl1	UTSW	10	78,584,314 (GRCm39)	missense	probably damaging	1.00
R3845:Tektl1	UTSW	10	78,584,532 (GRCm39)	missense	probably benign
R4023:Tektl1	UTSW	10	78,588,727 (GRCm39)	missense	probably benign	0.03
R4808:Tektl1	UTSW	10	78,588,698 (GRCm39)	missense	probably benign	0.02
R4812:Tektl1	UTSW	10	78,585,050 (GRCm39)	missense	probably benign	0.01
R5391:Tektl1	UTSW	10	78,588,688 (GRCm39)	nonsense	probably null
R5434:Tektl1	UTSW	10	78,584,484 (GRCm39)	nonsense	probably null
R6382:Tektl1	UTSW	10	78,588,675 (GRCm39)	missense	possibly damaging	0.90
R6743:Tektl1	UTSW	10	78,588,726 (GRCm39)	missense	probably benign	0.01
R7177:Tektl1	UTSW	10	78,588,324 (GRCm39)	missense	probably damaging	1.00
R8158:Tektl1	UTSW	10	78,584,509 (GRCm39)	missense	probably benign	0.01
R8504:Tektl1	UTSW	10	78,586,463 (GRCm39)	missense	probably damaging	1.00
R8504:Tektl1	UTSW	10	78,585,038 (GRCm39)	missense	probably benign	0.00
R8558:Tektl1	UTSW	10	78,583,035 (GRCm39)	missense	probably damaging	1.00
R8806:Tektl1	UTSW	10	78,588,306 (GRCm39)	missense	probably damaging	1.00
R8925:Tektl1	UTSW	10	78,588,258 (GRCm39)	missense	probably damaging	1.00
R8927:Tektl1	UTSW	10	78,588,258 (GRCm39)	missense	probably damaging	1.00
R9285:Tektl1	UTSW	10	78,588,234 (GRCm39)	splice site	probably benign
R9407:Tektl1	UTSW	10	78,583,128 (GRCm39)	missense	probably damaging	0.99
X0057:Tektl1	UTSW	10	78,586,375 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- CCCATTGATCTGGTGCTGTG -3'
(R):5'- ATTCTAGCCACCAGTAAAGAGTG -3'

Sequencing Primer
(F):5'- CATAGGCAGCGGTAGGC -3'
(R):5'- CCCTGTCCATTCTCCGAGGAG -3'

Posted On

2018-08-29