Mutagenetix > Incidental Mutation

Incidental Mutation 'R9407:Tektl1'

711601

Institutional Source

Beutler Lab

Gene Symbol

Tektl1

Ensembl Gene

ENSMUSG00000078442

Gene Name

tektin like 1

Synonyms

Ccdc105, 4931413A09Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9407 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78582760-78588899 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78583128 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 419 (T419A)

Ref Sequence

ENSEMBL: ENSMUSP00000101022 (fasta)

Gene Model

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

AlphaFold

Q9D4K7

Predicted Effect

probably damaging
Transcript: ENSMUST00000105383
AA Change: T419A

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101022
Gene: ENSMUSG00000078442
AA Change: T419A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	T	C	14: 64,223,629 (GRCm39)	Y49C	probably damaging	Het
Abca6	A	T	11: 110,093,210 (GRCm39)	L1021*	probably null	Het
Abcc9	A	G	6: 142,574,229 (GRCm39)	S1003P	possibly damaging	Het
Aldh4a1	A	G	4: 139,372,345 (GRCm39)	I505V	probably benign	Het
Brwd1	T	C	16: 95,803,693 (GRCm39)	D2159G	possibly damaging	Het
C1s2	T	C	6: 124,602,454 (GRCm39)	I586V	probably benign	Het
Cd300e	C	A	11: 114,946,171 (GRCm39)	D97Y	probably damaging	Het
Celsr3	A	G	9: 108,723,596 (GRCm39)	D2877G	probably damaging	Het
Cep41	T	C	6: 30,655,841 (GRCm39)	N328D	probably benign	Het
Cldn15	G	A	5: 137,003,765 (GRCm39)	V227M	probably damaging	Het
Clec10a	T	G	11: 70,060,155 (GRCm39)	I98S	probably damaging	Het
Cpne4	A	G	9: 104,749,963 (GRCm39)	Q89R	probably damaging	Het
Cryba2	C	A	1: 74,932,037 (GRCm39)	A4S	probably benign	Het
Csmd2	G	A	4: 128,442,613 (GRCm39)	A3222T		Het
Dapk1	C	A	13: 60,898,991 (GRCm39)	Y820*	probably null	Het
Efcab5	G	A	11: 77,022,934 (GRCm39)	T593I	probably damaging	Het
Entrep3	C	A	3: 89,094,645 (GRCm39)	A416D	possibly damaging	Het
Gar1	A	G	3: 129,620,608 (GRCm39)	Y160H	probably damaging	Het
Gm21834	T	A	17: 58,048,863 (GRCm39)	I118L	probably benign	Het
Gtf2a1l	G	A	17: 89,001,531 (GRCm39)	G129D	probably damaging	Het
Gzmb	T	A	14: 56,497,712 (GRCm39)	Y176F	probably benign	Het
Helz2	T	G	2: 180,881,975 (GRCm39)	K273Q	probably benign	Het
Ifi207	T	A	1: 173,555,234 (GRCm39)	E816V	probably damaging	Het
Insr	A	C	8: 3,235,106 (GRCm39)	D694E	probably benign	Het
Insyn2b	G	A	11: 34,352,072 (GRCm39)	R38Q	probably damaging	Het
Ipcef1	A	T	10: 6,870,036 (GRCm39)	C172*	probably null	Het
Itgal	T	G	7: 126,921,796 (GRCm39)		probably null	Het
Laptm5	A	T	4: 130,655,990 (GRCm39)	M103L		Het
Lypd4	A	T	7: 24,566,160 (GRCm39)	C55S	probably null	Het
Mccc1	A	C	3: 36,030,865 (GRCm39)	H400Q	possibly damaging	Het
Myl4	C	T	11: 104,474,887 (GRCm39)	R79W	probably damaging	Het
Myo18a	A	G	11: 77,709,596 (GRCm39)	T569A	probably benign	Het
Or14a259	G	C	7: 86,013,194 (GRCm39)	S117*	probably null	Het
Or4c117	T	A	2: 88,955,629 (GRCm39)	T149S	probably benign	Het
Or5ak24	A	G	2: 85,261,060 (GRCm39)	S38P	probably damaging	Het
Otof	T	A	5: 30,538,265 (GRCm39)	D1153V	probably damaging	Het
Pcdha12	A	T	18: 37,153,614 (GRCm39)	D111V	probably damaging	Het
Pomt2	G	T	12: 87,157,146 (GRCm39)	F724L	probably damaging	Het
Ros1	T	A	10: 51,994,491 (GRCm39)	Y1284F	probably damaging	Het
Skint6	T	C	4: 113,034,224 (GRCm39)	K301R	possibly damaging	Het
Slc30a5	T	A	13: 100,951,214 (GRCm39)	R223*	probably null	Het
Slc35a1	A	T	4: 34,675,181 (GRCm39)	V119E	probably damaging	Het
Slc6a11	A	T	6: 114,220,914 (GRCm39)	I482F	probably damaging	Het
Tgm1	A	T	14: 55,942,991 (GRCm39)	C616*	probably null	Het
Tiam2	T	A	17: 3,553,298 (GRCm39)	I1125N	probably damaging	Het
Tln2	T	C	9: 67,136,732 (GRCm39)	D1251G	probably damaging	Het
Tnfaip2	C	G	12: 111,412,161 (GRCm39)	S187R	probably benign	Het
Ush2a	A	G	1: 188,644,045 (GRCm39)	Y4469C	probably damaging	Het
Vmn1r229	G	C	17: 21,035,259 (GRCm39)	C168S	probably damaging	Het
Vmn2r53	A	G	7: 12,335,124 (GRCm39)	S179P	probably damaging	Het
Zfp474	A	C	18: 52,771,502 (GRCm39)	I52L	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
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
X0057:Tektl1	UTSW	10	78,586,375 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- AGGCAAGCTGAGGTCACTTG -3'
(R):5'- AAGACTTTGCCTAGCTCCACTAC -3'

Sequencing Primer
(F):5'- AGCTGAGGTCACTTGGAGGC -3'
(R):5'- GCCTAGCTCCACTACTTTCTAAAAG -3'

Posted On

2022-05-16