Mutagenetix > Incidental Mutation

Incidental Mutation 'R3845:Tektl1'

277334

Institutional Source

Beutler Lab

Gene Symbol

Tektl1

Ensembl Gene

ENSMUSG00000078442

Gene Name

tektin like 1

Synonyms

Ccdc105, 4931413A09Rik

MMRRC Submission

040893-MU

Accession Numbers

Essential gene?

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

Stock #

R3845 (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 78584532 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 330 (N330S)

Ref Sequence

ENSEMBL: ENSMUSP00000101022 (fasta)

Gene Model

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

AlphaFold

Q9D4K7

Predicted Effect

probably benign
Transcript: ENSMUST00000105383
AA Change: N330S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000101022
Gene: ENSMUSG00000078442
AA Change: N330S

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	C	8: 44,079,669 (GRCm39)	N185S	probably benign	Het
Apool	A	T	X: 111,274,155 (GRCm39)		probably benign	Het
Atp4a	A	G	7: 30,416,540 (GRCm39)	N439S	probably null	Het
AU041133	T	A	10: 81,987,152 (GRCm39)	H268Q	probably damaging	Het
Ccdc136	C	T	6: 29,417,176 (GRCm39)	R666W	probably benign	Het
Ccdc97	T	C	7: 25,414,453 (GRCm39)		probably benign	Het
Celf1	T	C	2: 90,839,583 (GRCm39)	V336A	possibly damaging	Het
Chd3	T	C	11: 69,237,585 (GRCm39)	N1870D	possibly damaging	Het
Col5a3	C	T	9: 20,719,673 (GRCm39)	D229N	unknown	Het
Cpn1	G	T	19: 43,962,523 (GRCm39)	P142Q	possibly damaging	Het
Cubn	T	C	2: 13,287,819 (GRCm39)	D3420G	probably damaging	Het
Cyp2u1	A	G	3: 131,087,135 (GRCm39)	F482S	possibly damaging	Het
Foxo1	T	A	3: 52,253,701 (GRCm39)	D621E	probably benign	Het
Grid2	A	G	6: 64,322,826 (GRCm39)	M609V	possibly damaging	Het
Hsd17b3	A	T	13: 64,236,876 (GRCm39)	F23I	possibly damaging	Het
Kcnk10	A	G	12: 98,407,003 (GRCm39)	I217T	probably benign	Het
Mis18bp1	G	A	12: 65,195,916 (GRCm39)	S616L	possibly damaging	Het
Mtch1	A	T	17: 29,561,806 (GRCm39)	F133I	probably damaging	Het
Myh4	T	A	11: 67,149,931 (GRCm39)	V1830E	possibly damaging	Het
Nav3	T	C	10: 109,689,237 (GRCm39)	M347V	possibly damaging	Het
Nbea	A	G	3: 55,993,713 (GRCm39)		probably benign	Het
Nhej1	A	T	1: 75,008,042 (GRCm39)	D76E	probably benign	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or5m12	A	C	2: 85,735,081 (GRCm39)	C106G	probably damaging	Het
Pias3	T	C	3: 96,609,526 (GRCm39)	V307A	probably benign	Het
Pltp	T	A	2: 164,696,208 (GRCm39)	M135L	probably benign	Het
Plxna2	A	G	1: 194,476,098 (GRCm39)	Y1106C	probably damaging	Het
Pramel26	T	C	4: 143,538,545 (GRCm39)	E142G	probably damaging	Het
Ptgir	G	A	7: 16,641,311 (GRCm39)	R201H	probably damaging	Het
Ptk7	A	T	17: 46,897,344 (GRCm39)	D329E	probably benign	Het
Pygl	T	C	12: 70,245,217 (GRCm39)	D411G	probably benign	Het
Rev1	A	T	1: 38,138,069 (GRCm39)	M72K	probably damaging	Het
Sfrp1	T	C	8: 23,902,264 (GRCm39)	L155P	probably damaging	Het
Slc5a4a	A	G	10: 76,024,983 (GRCm39)	E620G	probably damaging	Het
Smarca2	A	G	19: 26,698,273 (GRCm39)	I1314V	probably benign	Het
Tas2r109	G	A	6: 132,957,766 (GRCm39)	L55F	probably damaging	Het
Tek	T	A	4: 94,693,109 (GRCm39)	C274S	probably damaging	Het
Tent4b	A	T	8: 88,977,292 (GRCm39)	I322F	possibly damaging	Het
Tmem38b	T	A	4: 53,859,905 (GRCm39)	D228E	probably benign	Het
Topbp1	T	C	9: 103,187,122 (GRCm39)	V109A	possibly damaging	Het
Trbv5	A	G	6: 41,039,682 (GRCm39)	I96V	probably benign	Het
Trim16	T	G	11: 62,727,498 (GRCm39)		probably benign	Het
Upf3a	A	T	8: 13,848,238 (GRCm39)	T345S	probably benign	Het
Usp15	A	G	10: 122,955,040 (GRCm39)	S913P	probably damaging	Het
Vmn2r124	T	A	17: 18,293,953 (GRCm39)	V680D	possibly damaging	Het
Vmn2r91	G	A	17: 18,327,860 (GRCm39)	V485I	probably benign	Het
Zdbf2	A	T	1: 63,347,483 (GRCm39)	H1954L	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
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
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'- GCCCCAAAGTCATGGTCATTC -3'
(R):5'- AGCACCCATTCATTCACAGG -3'

Sequencing Primer
(F):5'- AAAGTCATGGTCATTCTTTCCTGGAG -3'
(R):5'- TTCACAGGTTCTACTTCAAAACAAGC -3'

Posted On

2015-04-06