Mutagenetix > Incidental Mutation

Incidental Mutation 'R1757:Tektl1'

194985

Institutional Source

Beutler Lab

Gene Symbol

Tektl1

Ensembl Gene

ENSMUSG00000078442

Gene Name

tektin like 1

Synonyms

Ccdc105, 4931413A09Rik

MMRRC Submission

039789-MU

Accession Numbers

Essential gene?

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

Stock #

R1757 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78582760-78588899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78583058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 442 (N442S)

Ref Sequence

ENSEMBL: ENSMUSP00000101022 (fasta)

Gene Model

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

AlphaFold

Q9D4K7

Predicted Effect

probably benign
Transcript: ENSMUST00000105383
AA Change: N442S

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

SMART Domains

Protein: ENSMUSP00000101022
Gene: ENSMUSG00000078442
AA Change: N442S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209307

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210562

Meta Mutation Damage Score

0.0667

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

100% (111/111)

Allele List at MGI

Other mutations in this stock

Total: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd6	A	T	14: 8,049,867 (GRCm38)	I219F	probably damaging	Het
Acvr1b	A	G	15: 101,096,703 (GRCm39)	I207V	possibly damaging	Het
Adamtsl4	T	C	3: 95,585,252 (GRCm39)	T839A	probably benign	Het
Akap1	C	T	11: 88,736,578 (GRCm39)	R61H	probably damaging	Het
Akap9	A	G	5: 4,051,667 (GRCm39)	D1478G	probably benign	Het
Aloxe3	T	A	11: 69,026,775 (GRCm39)	V547E	possibly damaging	Het
Ano6	G	A	15: 95,860,148 (GRCm39)	A757T	probably damaging	Het
Armc10	A	G	5: 21,858,455 (GRCm39)	T167A	probably damaging	Het
BB019430	A	C	10: 58,539,869 (GRCm39)		noncoding transcript	Het
Brms1	C	T	19: 5,096,435 (GRCm39)	R82W	probably damaging	Het
Btnl6	G	A	17: 34,733,062 (GRCm39)	T267I	probably benign	Het
Catsper4	A	T	4: 133,945,212 (GRCm39)	F215L	probably benign	Het
Ccdc188	T	C	16: 18,036,552 (GRCm39)	F197S	probably damaging	Het
Cers5	A	C	15: 99,634,212 (GRCm39)	C379G	probably benign	Het
Chchd6	A	G	6: 89,361,626 (GRCm39)	L259P	probably damaging	Het
Cntnap2	T	A	6: 46,736,763 (GRCm39)	C730S	probably damaging	Het
Coch	T	G	12: 51,649,631 (GRCm39)	V314G	probably damaging	Het
Cog1	T	A	11: 113,543,130 (GRCm39)	S213T	possibly damaging	Het
Crot	A	T	5: 9,037,828 (GRCm39)	F163I	probably damaging	Het
Cyp4f13	A	T	17: 33,148,932 (GRCm39)	I162N	probably damaging	Het
Dab2	A	T	15: 6,359,933 (GRCm39)		probably benign	Het
Depdc1b	C	T	13: 108,460,482 (GRCm39)	R31W	probably damaging	Het
Dlk1	T	C	12: 109,425,613 (GRCm39)	F161S	probably damaging	Het
Dnah6	T	C	6: 73,137,965 (GRCm39)	E913G	probably damaging	Het
Dnajc6	A	G	4: 101,455,028 (GRCm39)	Y5C	probably damaging	Het
Dock10	T	C	1: 80,511,586 (GRCm39)	T1508A	probably damaging	Het
Dstyk	A	G	1: 132,361,832 (GRCm39)		probably benign	Het
Efcc1	T	C	6: 87,726,265 (GRCm39)		probably benign	Het
Entpd1	T	C	19: 40,727,450 (GRCm39)	Y533H	probably benign	Het
Epha8	A	T	4: 136,658,789 (GRCm39)		probably null	Het
Erich3	C	T	3: 154,401,402 (GRCm39)	T17M	probably damaging	Het
Ethe1	T	C	7: 24,307,899 (GRCm39)		probably benign	Het
Fbxw15	A	T	9: 109,386,347 (GRCm39)	M211K	probably damaging	Het
Fhod3	G	A	18: 25,199,335 (GRCm39)	V669M	possibly damaging	Het
Fktn	C	T	4: 53,747,003 (GRCm39)		probably benign	Het
Foxred1	G	A	9: 35,122,130 (GRCm39)	R20C	probably benign	Het
Gbp9	A	G	5: 105,242,319 (GRCm39)	L140P	probably damaging	Het
Gga1	T	C	15: 78,773,230 (GRCm39)	L286P	probably damaging	Het
Gml	T	C	15: 74,685,462 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,486,035 (GRCm39)	K628N	probably damaging	Het
Gtf3c4	G	A	2: 28,720,648 (GRCm39)		probably benign	Het
H2-M10.6	A	C	17: 37,124,043 (GRCm39)	Y169S	probably benign	Het
Hal	G	A	10: 93,330,490 (GRCm39)	V245I	probably benign	Het
Hebp2	T	C	10: 18,420,849 (GRCm39)	Y72C	probably damaging	Het
Helz2	T	C	2: 180,878,056 (GRCm39)	E914G	probably damaging	Het
Herc3	T	C	6: 58,893,455 (GRCm39)	Y906H	probably damaging	Het
Hfm1	A	T	5: 107,028,226 (GRCm39)		probably null	Het
Hgs	C	T	11: 120,370,889 (GRCm39)	P582S	probably damaging	Het
Hoxa10	G	A	6: 52,211,469 (GRCm39)	P149L	probably damaging	Het
Inpp5j	T	A	11: 3,454,738 (GRCm39)	Q4L	possibly damaging	Het
Ints8	A	C	4: 11,254,109 (GRCm39)	M1R	probably null	Het
Isg15	T	C	4: 156,284,447 (GRCm39)	E27G	possibly damaging	Het
Klf13	A	T	7: 63,541,513 (GRCm39)	C205S	probably damaging	Het
Lama1	A	T	17: 68,070,831 (GRCm39)	Y830F	probably benign	Het
Lama1	G	A	17: 68,004,378 (GRCm39)	V17M	unknown	Het
Lama3	A	G	18: 12,598,556 (GRCm39)	N988D	probably benign	Het
Lcat	CAT	C	8: 106,668,446 (GRCm39)		probably null	Het
Lct	G	T	1: 128,228,994 (GRCm39)	P833H	probably damaging	Het
Lmf1	A	T	17: 25,874,184 (GRCm39)	R403W	probably damaging	Het
Me3	T	G	7: 89,282,230 (GRCm39)	S38A	probably benign	Het
Myg1	A	T	15: 102,240,264 (GRCm39)	D30V	probably benign	Het
Nbea	A	G	3: 55,537,610 (GRCm39)	I2841T	possibly damaging	Het
Nek1	T	A	8: 61,542,847 (GRCm39)		probably null	Het
Obsl1	C	T	1: 75,470,527 (GRCm39)	R1043H	probably benign	Het
Or4p23	G	T	2: 88,576,361 (GRCm39)	D290E	probably benign	Het
Or5b119	A	C	19: 13,456,971 (GRCm39)	V197G	possibly damaging	Het
Or6n2	A	T	1: 173,897,224 (GRCm39)	Y120F	probably damaging	Het
Or9m2	T	G	2: 87,820,926 (GRCm39)	I157R	probably damaging	Het
Osbpl9	A	G	4: 108,921,780 (GRCm39)	Y613H	probably damaging	Het
Per3	C	T	4: 151,127,249 (GRCm39)		probably null	Het
Pex6	G	T	17: 47,034,424 (GRCm39)	V758L	probably damaging	Het
Pikfyve	A	G	1: 65,291,707 (GRCm39)	I1309V	probably damaging	Het
Pimreg	A	G	11: 71,933,985 (GRCm39)	E37G	possibly damaging	Het
Pjvk	G	A	2: 76,486,232 (GRCm39)	V211I	probably benign	Het
Plekhg4	T	A	8: 106,108,293 (GRCm39)	V1112E	probably damaging	Het
Ptprz1	T	A	6: 23,044,319 (GRCm39)	M2106K	probably damaging	Het
Rdh16f2	G	T	10: 127,712,765 (GRCm39)	L254F	probably benign	Het
Rictor	G	A	15: 6,803,343 (GRCm39)	R485Q	possibly damaging	Het
Rnf146	G	A	10: 29,223,475 (GRCm39)	T137M	probably damaging	Het
Rrp9	T	A	9: 106,360,203 (GRCm39)	C204S	probably damaging	Het
Rxylt1	T	C	10: 121,924,920 (GRCm39)	T261A	probably benign	Het
Serpinb9h	T	C	13: 33,583,336 (GRCm39)	S150P	probably benign	Het
Shkbp1	T	C	7: 27,041,776 (GRCm39)	T693A	probably benign	Het
Skint9	A	G	4: 112,271,159 (GRCm39)	Y84H	probably benign	Het
Slc22a12	A	T	19: 6,586,761 (GRCm39)		probably null	Het
Slfn4	T	C	11: 83,076,211 (GRCm39)	C26R	possibly damaging	Het
Snrnp200	T	C	2: 127,074,363 (GRCm39)	L1401P	probably damaging	Het
Specc1	T	A	11: 62,010,110 (GRCm39)		probably null	Het
Spef2	A	T	15: 9,717,568 (GRCm39)	M316K	probably damaging	Het
Tbc1d22b	A	G	17: 29,790,647 (GRCm39)	R204G	probably damaging	Het
Tgfbr3l	C	A	8: 4,299,548 (GRCm39)	D110E	probably benign	Het
Ticrr	T	G	7: 79,325,071 (GRCm39)	S532R	probably damaging	Het
Ticrr	C	A	7: 79,328,794 (GRCm39)	Y644*	probably null	Het
Traf3ip1	A	T	1: 91,450,579 (GRCm39)	T509S	probably damaging	Het
Trmt10b	T	C	4: 45,307,946 (GRCm39)	Y209H	probably damaging	Het
Trmt6	T	C	2: 132,652,157 (GRCm39)	M172V	probably damaging	Het
Tsc1	A	G	2: 28,576,125 (GRCm39)	D978G	probably benign	Het
Tshz2	C	A	2: 169,725,843 (GRCm39)	F146L	probably benign	Het
Tspyl4	G	T	10: 34,173,576 (GRCm39)	E23*	probably null	Het
Ulk2	A	T	11: 61,732,165 (GRCm39)		probably benign	Het
Umodl1	A	T	17: 31,227,674 (GRCm39)	I1336F	probably damaging	Het
Vezt	T	C	10: 93,806,425 (GRCm39)	D662G	probably benign	Het
Vnn1	G	T	10: 23,776,727 (GRCm39)	Q359H	probably benign	Het
Vnn1	A	T	10: 23,776,726 (GRCm39)	Q359L	possibly damaging	Het
Zdhhc16	A	G	19: 41,930,394 (GRCm39)	N14S	probably damaging	Het
Zfp455	T	C	13: 67,355,601 (GRCm39)	S225P	probably damaging	Het
Zfp74	T	A	7: 29,634,486 (GRCm39)	E407D	probably benign	Het
Zic2	T	A	14: 122,716,031 (GRCm39)	H384Q	possibly damaging	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
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
R6749:Tektl1	UTSW	10	78,588,672 (GRCm39)	missense	possibly damaging	0.95
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'- TTAGTCAGAGGGAGGGCCATGTATC -3'
(R):5'- CCAGAAAGACTTTGCCTAGCTCCAC -3'

Sequencing Primer
(F):5'- CAAGCTGAGGTCACTTGGAG -3'
(R):5'- GACAGGTTCTTTTAAAGCACAGTCC -3'

Posted On

2014-05-23