Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01080:Tti1'

278160

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tti1

Ensembl Gene

ENSMUSG00000027650

Gene Name

TELO2 interacting protein 1

Synonyms

2610036D13Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

IGL01080

Quality Score

Status

Chromosome

Chromosomal Location

157823723-157870353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 157824379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 1025 (V1025I)

Ref Sequence

ENSEMBL: ENSMUSP00000105148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029179] [ENSMUST00000109522]

AlphaFold

Q91V83

Predicted Effect

probably damaging
Transcript: ENSMUST00000029179
AA Change: V1025I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: V1025I

Domain	Start	End	E-Value	Type
low complexity region	89	101	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	194	206	N/A	INTRINSIC
low complexity region	306	319	N/A	INTRINSIC
low complexity region	401	411	N/A	INTRINSIC
low complexity region	494	504	N/A	INTRINSIC
low complexity region	752	768	N/A	INTRINSIC
SCOP:d1gw5a_	855	1044	3e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109522
AA Change: V1025I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: V1025I

Domain	Start	End	E-Value	Type
low complexity region	89	101	N/A	INTRINSIC
low complexity region	175	189	N/A	INTRINSIC
low complexity region	194	206	N/A	INTRINSIC
low complexity region	306	319	N/A	INTRINSIC
low complexity region	401	411	N/A	INTRINSIC
low complexity region	494	504	N/A	INTRINSIC
low complexity region	752	768	N/A	INTRINSIC
SCOP:d1gw5a_	855	1044	3e-4	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,984,258 (GRCm39)	R663W	probably damaging	Het
Cacng5	A	T	11: 107,768,754 (GRCm39)	F179L	probably damaging	Het
Cacng5	C	T	11: 107,772,531 (GRCm39)	V106I	probably benign	Het
Cd96	T	C	16: 45,870,056 (GRCm39)	E471G	possibly damaging	Het
Cpt1c	T	C	7: 44,610,333 (GRCm39)	D621G	probably damaging	Het
Csmd3	T	C	15: 47,744,799 (GRCm39)	I1503V	probably benign	Het
Dmgdh	T	C	13: 93,840,286 (GRCm39)		probably benign	Het
Flg	A	T	3: 93,186,906 (GRCm39)	K119N	probably benign	Het
Gale	T	C	4: 135,693,389 (GRCm39)	Y104H	probably damaging	Het
Gm8005	T	C	14: 42,258,971 (GRCm39)	D119G	unknown	Het
Gstk1	A	T	6: 42,223,560 (GRCm39)	D50V	possibly damaging	Het
Kmt2a	T	C	9: 44,720,389 (GRCm39)	D3866G	unknown	Het
Mastl	A	G	2: 23,036,160 (GRCm39)	S119P	probably damaging	Het
Or2aj4	A	T	16: 19,384,958 (GRCm39)	V225E	probably damaging	Het
Phf11c	G	A	14: 59,630,648 (GRCm39)	T19I	probably benign	Het
Ppp1r16b	A	G	2: 158,599,092 (GRCm39)	T355A	probably damaging	Het
Prmt7	T	G	8: 106,963,846 (GRCm39)		probably benign	Het
Rad50	T	C	11: 53,596,895 (GRCm39)	T44A	probably damaging	Het
Rangap1	C	T	15: 81,589,953 (GRCm39)		probably benign	Het
Slc27a3	A	T	3: 90,292,767 (GRCm39)	V634E	probably benign	Het
Tbxas1	T	A	6: 38,998,115 (GRCm39)	L228I	probably damaging	Het
Tnfaip3	T	C	10: 18,887,403 (GRCm39)	K41E	probably benign	Het
Tyrobp	T	C	7: 30,116,841 (GRCm39)		probably null	Het
Wfdc16	A	T	2: 164,480,406 (GRCm39)	W30R	probably damaging	Het
Zyg11b	A	T	4: 108,094,613 (GRCm39)	L657Q	probably damaging	Het

Other mutations in Tti1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Tti1	APN	2	157,850,885 (GRCm39)	missense	probably damaging	1.00
IGL00434:Tti1	APN	2	157,850,886 (GRCm39)	missense	probably damaging	1.00
IGL00820:Tti1	APN	2	157,850,888 (GRCm39)	missense	probably damaging	1.00
IGL00949:Tti1	APN	2	157,824,319 (GRCm39)	missense	probably benign	0.00
IGL01084:Tti1	APN	2	157,824,379 (GRCm39)	missense	probably damaging	1.00
IGL01339:Tti1	APN	2	157,851,050 (GRCm39)	missense	possibly damaging	0.80
IGL01685:Tti1	APN	2	157,842,705 (GRCm39)	missense	probably benign	0.01
IGL01866:Tti1	APN	2	157,849,618 (GRCm39)	missense	probably benign	0.27
IGL01903:Tti1	APN	2	157,842,542 (GRCm39)	missense	probably benign	0.01
IGL03142:Tti1	APN	2	157,842,597 (GRCm39)	missense	probably damaging	0.99
IGL03173:Tti1	APN	2	157,848,932 (GRCm39)	unclassified	probably benign
IGL03385:Tti1	APN	2	157,834,945 (GRCm39)	missense	possibly damaging	0.86
R0413:Tti1	UTSW	2	157,837,396 (GRCm39)	missense	probably benign	0.00
R0601:Tti1	UTSW	2	157,835,292 (GRCm39)	missense	probably damaging	0.99
R1718:Tti1	UTSW	2	157,850,144 (GRCm39)	missense	probably benign	0.40
R1760:Tti1	UTSW	2	157,834,955 (GRCm39)	missense	possibly damaging	0.87
R1761:Tti1	UTSW	2	157,849,617 (GRCm39)	missense	probably benign	0.01
R1968:Tti1	UTSW	2	157,850,966 (GRCm39)	missense	possibly damaging	0.66
R2054:Tti1	UTSW	2	157,849,365 (GRCm39)	missense	possibly damaging	0.79
R2131:Tti1	UTSW	2	157,842,663 (GRCm39)	missense	probably benign
R3886:Tti1	UTSW	2	157,850,870 (GRCm39)	missense	possibly damaging	0.74
R4479:Tti1	UTSW	2	157,850,315 (GRCm39)	missense	possibly damaging	0.95
R4647:Tti1	UTSW	2	157,848,940 (GRCm39)	unclassified	probably benign
R5124:Tti1	UTSW	2	157,850,115 (GRCm39)	missense	probably damaging	0.99
R5145:Tti1	UTSW	2	157,850,432 (GRCm39)	missense	probably benign	0.30
R5852:Tti1	UTSW	2	157,842,593 (GRCm39)	missense	probably damaging	1.00
R6667:Tti1	UTSW	2	157,850,347 (GRCm39)	nonsense	probably null
R6714:Tti1	UTSW	2	157,848,971 (GRCm39)	missense	possibly damaging	0.73
R6719:Tti1	UTSW	2	157,824,220 (GRCm39)	missense	probably benign	0.01
R7143:Tti1	UTSW	2	157,849,596 (GRCm39)	missense	probably benign
R7490:Tti1	UTSW	2	157,837,392 (GRCm39)	missense	probably damaging	1.00
R7540:Tti1	UTSW	2	157,849,916 (GRCm39)	missense	probably benign	0.43
R7549:Tti1	UTSW	2	157,849,088 (GRCm39)	missense	probably damaging	1.00
R7641:Tti1	UTSW	2	157,850,949 (GRCm39)	missense	possibly damaging	0.92
R7654:Tti1	UTSW	2	157,850,474 (GRCm39)	missense	probably benign	0.00
R7716:Tti1	UTSW	2	157,842,618 (GRCm39)	missense	probably benign	0.43
R7722:Tti1	UTSW	2	157,849,527 (GRCm39)	missense	probably benign	0.00
R7898:Tti1	UTSW	2	157,835,390 (GRCm39)	missense	probably benign	0.00
R8117:Tti1	UTSW	2	157,849,418 (GRCm39)	missense	probably damaging	1.00
R8145:Tti1	UTSW	2	157,849,509 (GRCm39)	nonsense	probably null
R8249:Tti1	UTSW	2	157,842,635 (GRCm39)	missense	probably benign
R8712:Tti1	UTSW	2	157,834,930 (GRCm39)	missense	probably damaging	1.00
R8784:Tti1	UTSW	2	157,850,514 (GRCm39)	missense	probably benign	0.02
R8912:Tti1	UTSW	2	157,851,188 (GRCm39)	missense	probably benign	0.00
R9352:Tti1	UTSW	2	157,842,692 (GRCm39)	missense	probably benign	0.00
R9725:Tti1	UTSW	2	157,849,304 (GRCm39)	missense	probably benign	0.13
Z1176:Tti1	UTSW	2	157,824,349 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16