Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03064:Ttll8'

409589

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttll8

Ensembl Gene

ENSMUSG00000022388

Gene Name

tubulin tyrosine ligase-like family, member 8

Synonyms

1700019P01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

IGL03064

Quality Score

Status

Chromosome

Chromosomal Location

88774836-88838621 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88803797 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 385 (T385A)

Ref Sequence

ENSEMBL: ENSMUSP00000104996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109371] [ENSMUST00000177180]

AlphaFold

A4Q9F1

Predicted Effect

probably benign
Transcript: ENSMUST00000109371
AA Change: T385A

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000104996
Gene: ENSMUSG00000022388
AA Change: T385A

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
low complexity region	273	285	N/A	INTRINSIC
Pfam:TTL	324	621	3.9e-74	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137740

Predicted Effect

probably benign
Transcript: ENSMUST00000177180

SMART Domains

Protein: ENSMUSP00000135381
Gene: ENSMUSG00000022388

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177254

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm2	A	G	7: 119,174,864 (GRCm39)	T210A	probably damaging	Het
Adgb	T	A	10: 10,276,316 (GRCm39)	T351S	probably benign	Het
Akap9	A	G	5: 4,018,755 (GRCm39)	H1112R	probably damaging	Het
Angptl6	A	T	9: 20,786,939 (GRCm39)	Y261*	probably null	Het
Arhgef10l	A	C	4: 140,306,590 (GRCm39)	F395V	probably damaging	Het
Bub1	T	C	2: 127,659,373 (GRCm39)	N328S	probably benign	Het
Cacna1s	A	G	1: 136,039,731 (GRCm39)	N1186D	probably damaging	Het
Cacna2d2	C	A	9: 107,386,474 (GRCm39)	F200L	probably damaging	Het
Calca	G	A	7: 114,232,919 (GRCm39)	S110L	probably benign	Het
Ccdc120	G	A	X: 7,601,601 (GRCm39)	P263S	probably benign	Het
Dcaf8l	A	G	X: 88,448,857 (GRCm39)	V424A	possibly damaging	Het
Dgki	C	A	6: 37,126,599 (GRCm39)		probably benign	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
F5	A	T	1: 164,023,163 (GRCm39)	T1574S	probably benign	Het
Fam227b	T	C	2: 125,968,762 (GRCm39)		probably null	Het
Gm20521	T	A	14: 55,134,680 (GRCm39)	S301T	possibly damaging	Het
Hsd17b7	A	T	1: 169,787,287 (GRCm39)	I239N	probably benign	Het
Itih1	C	A	14: 30,663,514 (GRCm39)	E163D	probably benign	Het
Lama1	A	T	17: 68,086,099 (GRCm39)	Y1446F	probably benign	Het
Lama3	C	T	18: 12,572,406 (GRCm39)	T537M	possibly damaging	Het
Lars1	G	T	18: 42,354,636 (GRCm39)	Y770*	probably null	Het
Lrp2	A	T	2: 69,313,477 (GRCm39)	V2418E	probably damaging	Het
Maip1	A	G	1: 57,446,359 (GRCm39)	E143G	probably damaging	Het
Mast4	G	T	13: 102,897,472 (GRCm39)	S739*	probably null	Het
Mctp1	C	T	13: 76,949,632 (GRCm39)	Q555*	probably null	Het
Med14	A	T	X: 12,613,742 (GRCm39)	D291E	probably benign	Het
Mgat2	T	A	12: 69,231,777 (GRCm39)	V117D	probably damaging	Het
Mllt1	A	T	17: 57,207,094 (GRCm39)	M250K	probably benign	Het
Myt1	A	C	2: 181,439,594 (GRCm39)	Y372S	probably benign	Het
Naa16	T	A	14: 79,577,068 (GRCm39)	Q735H	probably damaging	Het
Ncf4	A	G	15: 78,135,102 (GRCm39)	Y53C	probably damaging	Het
Nlrp4a	A	T	7: 26,148,934 (GRCm39)	K180N	probably benign	Het
Nova1	A	G	12: 46,746,861 (GRCm39)	V472A	probably damaging	Het
Nup153	T	C	13: 46,847,315 (GRCm39)	T705A	probably benign	Het
Odf2	T	A	2: 29,791,091 (GRCm39)	N79K	probably benign	Het
Or4f7	A	G	2: 111,644,768 (GRCm39)	I101T	possibly damaging	Het
Pard3b	G	A	1: 62,237,930 (GRCm39)		probably benign	Het
Pde8b	G	A	13: 95,182,906 (GRCm39)	T388I	probably damaging	Het
Phactr2	A	G	10: 13,264,457 (GRCm39)		probably benign	Het
Phf12	T	C	11: 77,874,186 (GRCm39)	S17P	probably damaging	Het
Psmg2	T	A	18: 67,779,102 (GRCm39)	L90*	probably null	Het
Ryr2	T	C	13: 11,658,788 (GRCm39)		probably null	Het
Sec23b	T	C	2: 144,423,952 (GRCm39)	F534L	probably benign	Het
Sin3b	A	G	8: 73,483,686 (GRCm39)		probably benign	Het
Slc30a5	A	T	13: 100,947,818 (GRCm39)	L463Q	probably damaging	Het
Slc35g3	T	C	11: 69,651,895 (GRCm39)	H52R	possibly damaging	Het
Slc6a3	G	T	13: 73,719,585 (GRCm39)	S538I	probably damaging	Het
Socs2	G	T	10: 95,248,713 (GRCm39)	C133*	probably null	Het
Srebf2	G	A	15: 82,076,423 (GRCm39)	R691H	probably benign	Het
Tlr11	C	A	14: 50,598,557 (GRCm39)	P181Q	probably damaging	Het
Tlr7	T	A	X: 166,089,203 (GRCm39)	Q761L	possibly damaging	Het
Tmem120b	T	A	5: 123,240,336 (GRCm39)	Y90N	possibly damaging	Het
Tpcn1	T	C	5: 120,675,631 (GRCm39)	I778V	possibly damaging	Het
Vmn1r223	G	A	13: 23,434,153 (GRCm39)	R249H	probably damaging	Het
Vmn2r53	A	T	7: 12,334,937 (GRCm39)	I241N	possibly damaging	Het
Wdfy3	T	C	5: 102,083,863 (GRCm39)	R808G	probably damaging	Het
Zfyve26	T	A	12: 79,308,565 (GRCm39)	S231C	probably damaging	Het

Other mutations in Ttll8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00671:Ttll8	APN	15	88,798,356 (GRCm39)	missense	probably benign
IGL00895:Ttll8	APN	15	88,817,731 (GRCm39)	missense	probably damaging	1.00
IGL01061:Ttll8	APN	15	88,801,453 (GRCm39)	missense	possibly damaging	0.85
IGL01661:Ttll8	APN	15	88,820,202 (GRCm39)	splice site	probably benign
IGL01992:Ttll8	APN	15	88,799,848 (GRCm39)	missense	possibly damaging	0.48
IGL02212:Ttll8	APN	15	88,801,450 (GRCm39)	missense	probably benign	0.04
IGL02234:Ttll8	APN	15	88,798,252 (GRCm39)	missense	possibly damaging	0.53
IGL02569:Ttll8	APN	15	88,818,129 (GRCm39)	nonsense	probably null
IGL02935:Ttll8	APN	15	88,798,759 (GRCm39)	missense	probably benign	0.10
R0969:Ttll8	UTSW	15	88,818,138 (GRCm39)	missense	probably damaging	1.00
R1637:Ttll8	UTSW	15	88,798,647 (GRCm39)	missense	probably benign	0.12
R1939:Ttll8	UTSW	15	88,799,689 (GRCm39)	missense	probably damaging	1.00
R1992:Ttll8	UTSW	15	88,798,654 (GRCm39)	missense	probably benign	0.00
R2173:Ttll8	UTSW	15	88,798,800 (GRCm39)	missense	probably damaging	1.00
R2201:Ttll8	UTSW	15	88,818,156 (GRCm39)	missense	possibly damaging	0.57
R2414:Ttll8	UTSW	15	88,820,336 (GRCm39)	splice site	probably benign
R2905:Ttll8	UTSW	15	88,798,680 (GRCm39)	missense	probably benign	0.00
R4159:Ttll8	UTSW	15	88,801,444 (GRCm39)	missense	probably benign	0.00
R4368:Ttll8	UTSW	15	88,798,384 (GRCm39)	missense	possibly damaging	0.88
R4395:Ttll8	UTSW	15	88,799,783 (GRCm39)	missense	possibly damaging	0.80
R4707:Ttll8	UTSW	15	88,801,293 (GRCm39)	missense	probably damaging	0.99
R4926:Ttll8	UTSW	15	88,798,368 (GRCm39)	missense	probably damaging	0.98
R4983:Ttll8	UTSW	15	88,809,785 (GRCm39)	missense	probably benign	0.08
R5698:Ttll8	UTSW	15	88,823,209 (GRCm39)	missense	possibly damaging	0.85
R5752:Ttll8	UTSW	15	88,816,931 (GRCm39)	missense	probably benign	0.00
R5834:Ttll8	UTSW	15	88,801,449 (GRCm39)	missense	possibly damaging	0.48
R5889:Ttll8	UTSW	15	88,818,142 (GRCm39)	missense	probably damaging	1.00
R6528:Ttll8	UTSW	15	88,798,441 (GRCm39)	missense	probably benign	0.03
R6931:Ttll8	UTSW	15	88,798,507 (GRCm39)	missense	possibly damaging	0.55
R7133:Ttll8	UTSW	15	88,799,630 (GRCm39)	missense	probably damaging	0.99
R7268:Ttll8	UTSW	15	88,819,159 (GRCm39)	critical splice donor site	probably null
R7286:Ttll8	UTSW	15	88,801,442 (GRCm39)	missense	probably benign	0.01
R7502:Ttll8	UTSW	15	88,817,639 (GRCm39)	critical splice donor site	probably null
R7580:Ttll8	UTSW	15	88,818,132 (GRCm39)	missense	probably damaging	0.99
R7734:Ttll8	UTSW	15	88,798,368 (GRCm39)	missense	probably damaging	0.98
R7978:Ttll8	UTSW	15	88,799,565 (GRCm39)	missense	probably benign	0.09
R8074:Ttll8	UTSW	15	88,799,578 (GRCm39)	missense	probably damaging	1.00
R8351:Ttll8	UTSW	15	88,798,638 (GRCm39)	missense	probably benign	0.06
R8407:Ttll8	UTSW	15	88,798,741 (GRCm39)	missense	probably benign	0.01
R8901:Ttll8	UTSW	15	88,818,146 (GRCm39)	missense	probably benign	0.00
R9199:Ttll8	UTSW	15	88,798,818 (GRCm39)	missense	probably benign	0.16
R9443:Ttll8	UTSW	15	88,809,863 (GRCm39)	missense	possibly damaging	0.91
X0058:Ttll8	UTSW	15	88,801,333 (GRCm39)	nonsense	probably null

Posted On

2016-08-02