Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03385:Tti1'

420850

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: 0.947) question?

Stock #

IGL03385

Quality Score

Status

Chromosome

Chromosomal Location

157823723-157870353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 157834945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1005 (A1005V)

Ref Sequence

ENSEMBL: ENSMUSP00000105148 (fasta)

Gene Model

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

AlphaFold

Q91V83

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029179
AA Change: A1005V

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: A1005V

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

possibly damaging
Transcript: ENSMUST00000109522
AA Change: A1005V

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: A1005V

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

noncoding transcript
Transcript: ENSMUST00000126541

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bbs9	A	G	9: 22,555,044 (GRCm39)	T444A	probably benign	Het
Cdh20	A	G	1: 109,993,516 (GRCm39)	T324A	possibly damaging	Het
Col14a1	C	A	15: 55,273,600 (GRCm39)	T723K	unknown	Het
Col14a1	G	A	15: 55,335,104 (GRCm39)	G1513S	unknown	Het
Col1a2	C	A	6: 4,539,612 (GRCm39)	N1293K	unknown	Het
Ctdp1	T	C	18: 80,493,133 (GRCm39)	D454G	probably damaging	Het
Fut2	C	T	7: 45,300,193 (GRCm39)	G193E	possibly damaging	Het
G3bp2	A	G	5: 92,216,254 (GRCm39)	V94A	probably damaging	Het
Gm973	A	G	1: 59,621,629 (GRCm39)	S590G	probably benign	Het
Gon4l	A	T	3: 88,814,850 (GRCm39)	T1940S	probably benign	Het
Itk	G	A	11: 46,222,688 (GRCm39)	Q594*	probably null	Het
Kcnc2	G	A	10: 112,291,691 (GRCm39)	C293Y	probably damaging	Het
Krit1	A	G	5: 3,857,452 (GRCm39)	I86V	possibly damaging	Het
Lyst	T	A	13: 13,831,565 (GRCm39)	L1663*	probably null	Het
Moxd2	T	C	6: 40,855,952 (GRCm39)	T546A	probably damaging	Het
Myo7b	G	T	18: 32,122,630 (GRCm39)	Q717K	probably benign	Het
Or2a51	T	C	6: 43,178,914 (GRCm39)	V112A	probably benign	Het
Or2ad1	A	G	13: 21,326,657 (GRCm39)	V190A	probably benign	Het
Ostm1	A	C	10: 42,574,140 (GRCm39)	N123H	probably damaging	Het
Pcdh10	A	C	3: 45,335,947 (GRCm39)	S754R	possibly damaging	Het
Pomt2	A	T	12: 87,163,330 (GRCm39)	L613Q	probably damaging	Het
Samd9l	T	A	6: 3,376,208 (GRCm39)	N351I	probably damaging	Het
Serpinb9	T	C	13: 33,191,979 (GRCm39)		probably benign	Het
Slc12a4	T	A	8: 106,677,496 (GRCm39)		probably benign	Het
Smgc	T	A	15: 91,726,181 (GRCm39)	H42Q	possibly damaging	Het
Tor1a	A	G	2: 30,853,739 (GRCm39)	V197A	possibly damaging	Het
Ttc4	A	G	4: 106,525,397 (GRCm39)	S246P	probably benign	Het
Ugt3a1	A	T	15: 9,338,824 (GRCm39)	I63F	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
IGL01080:Tti1	APN	2	157,824,379 (GRCm39)	missense	probably damaging	1.00
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
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

2016-08-02