Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01866:Tti1'

178510

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: 0.952) question?

Stock #

IGL01866

Quality Score

Status

Chromosome

Chromosomal Location

157981803-158028433 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 158007698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 540 (D540E)

Ref Sequence

ENSEMBL: ENSMUSP00000105148 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029179] [ENSMUST00000109522] [ENSMUST00000124338]

AlphaFold

Q91V83

Predicted Effect

probably benign
Transcript: ENSMUST00000029179
AA Change: D540E

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: D540E

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 benign
Transcript: ENSMUST00000109522
AA Change: D540E

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: D540E

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 benign
Transcript: ENSMUST00000124338

SMART Domains

Protein: ENSMUSP00000116592
Gene: ENSMUSG00000027650

Domain	Start	End	E-Value	Type
low complexity region	89	101	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126541

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9430007A20Rik	T	C	4: 144,528,549	Y180H	possibly damaging	Het
Abi3bp	A	T	16: 56,671,973	I1361L	probably benign	Het
Amph	A	T	13: 19,142,002	D634V	probably damaging	Het
Ank1	G	A	8: 23,093,855	V317I	possibly damaging	Het
Ap4e1	G	A	2: 127,046,910	V460I	possibly damaging	Het
Arhgap19	A	T	19: 41,786,577	H198Q	probably benign	Het
C130026I21Rik	A	G	1: 85,254,186		probably benign	Het
Cacna1g	C	T	11: 94,457,111	G717D	probably damaging	Het
Camkk2	A	G	5: 122,763,950	S99P	probably damaging	Het
Catsperb	T	A	12: 101,509,311	Y371*	probably null	Het
Cbl	A	T	9: 44,153,825	C735*	probably null	Het
Ccdc146	C	A	5: 21,333,054	A91S	probably damaging	Het
Col1a2	G	T	6: 4,524,132	D531Y	probably damaging	Het
Dscam	T	A	16: 96,685,350	T1042S	probably benign	Het
Dtnb	A	G	12: 3,732,626	Y363C	probably benign	Het
Ear10	A	G	14: 43,923,328	L14P	probably damaging	Het
Egf	A	G	3: 129,735,880	S294P	probably benign	Het
Erbb3	T	C	10: 128,569,368	*1340W	probably null	Het
Fam217b	A	G	2: 178,420,431	T63A	probably benign	Het
Fig4	G	A	10: 41,232,164	P680L	possibly damaging	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm6882	T	A	7: 21,427,587	I119F	probably damaging	Het
Hdac10	C	A	15: 89,124,533	G442W	probably damaging	Het
Mc2r	C	T	18: 68,407,423	M266I	possibly damaging	Het
Mep1b	A	G	18: 21,094,993	Q551R	probably benign	Het
Mtrf1	T	A	14: 79,401,508	C27S	probably benign	Het
Myo5c	T	A	9: 75,269,582	M603K	probably benign	Het
Nuf2	A	G	1: 169,498,838	L448P	possibly damaging	Het
Olfr1535	T	C	13: 21,555,173	N283S	probably benign	Het
Olfr390	A	T	11: 73,787,828	I297L	probably benign	Het
Olfr517	C	T	7: 108,868,799	M118I	possibly damaging	Het
Olfr952	A	T	9: 39,426,729	M114K	probably damaging	Het
Ppp2r5c	T	C	12: 110,567,827	Y375H	probably benign	Het
Pstpip2	A	G	18: 77,877,625	I317M	probably benign	Het
Pxdn	A	G	12: 29,984,571	T208A	probably benign	Het
Rab3gap1	C	T	1: 127,891,080	H116Y	probably damaging	Het
Rarb	T	A	14: 16,443,751	D179V	probably benign	Het
Rasal1	G	A	5: 120,675,423	A621T	probably damaging	Het
Rnf6	G	A	5: 146,210,907	R434C	probably damaging	Het
Scn10a	C	A	9: 119,635,502	E1011*	probably null	Het
Sec24d	C	T	3: 123,293,595	Q137*	probably null	Het
Slc35g1	C	A	19: 38,403,194	A308E	probably damaging	Het
Smtnl1	C	A	2: 84,818,745	C55F	possibly damaging	Het
Stt3a	A	T	9: 36,734,366	D676E	probably benign	Het
Sytl2	T	C	7: 90,381,839		probably benign	Het
Trabd2b	A	G	4: 114,408,920	T44A	probably damaging	Het
Trim12a	T	C	7: 104,304,153		probably benign	Het
Tubgcp6	A	G	15: 89,103,488	V1094A	probably benign	Het
Vmn1r34	A	G	6: 66,637,389	Y122H	probably benign	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Zfp579	T	A	7: 4,994,258	Q218L	possibly damaging	Het

Other mutations in Tti1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Tti1	APN	2	158008966	missense	probably damaging	1.00
IGL00434:Tti1	APN	2	158008965	missense	probably damaging	1.00
IGL00820:Tti1	APN	2	158008968	missense	probably damaging	1.00
IGL00949:Tti1	APN	2	157982399	missense	probably benign	0.00
IGL01080:Tti1	APN	2	157982459	missense	probably damaging	1.00
IGL01084:Tti1	APN	2	157982459	missense	probably damaging	1.00
IGL01339:Tti1	APN	2	158009130	missense	possibly damaging	0.80
IGL01685:Tti1	APN	2	158000785	missense	probably benign	0.01
IGL01903:Tti1	APN	2	158000622	missense	probably benign	0.01
IGL03142:Tti1	APN	2	158000677	missense	probably damaging	0.99
IGL03173:Tti1	APN	2	158007012	unclassified	probably benign
IGL03385:Tti1	APN	2	157993025	missense	possibly damaging	0.86
R0413:Tti1	UTSW	2	157995476	missense	probably benign	0.00
R0601:Tti1	UTSW	2	157993372	missense	probably damaging	0.99
R1718:Tti1	UTSW	2	158008224	missense	probably benign	0.40
R1760:Tti1	UTSW	2	157993035	missense	possibly damaging	0.87
R1761:Tti1	UTSW	2	158007697	missense	probably benign	0.01
R1968:Tti1	UTSW	2	158009046	missense	possibly damaging	0.66
R2054:Tti1	UTSW	2	158007445	missense	possibly damaging	0.79
R2131:Tti1	UTSW	2	158000743	missense	probably benign
R3886:Tti1	UTSW	2	158008950	missense	possibly damaging	0.74
R4479:Tti1	UTSW	2	158008395	missense	possibly damaging	0.95
R4647:Tti1	UTSW	2	158007020	unclassified	probably benign
R5124:Tti1	UTSW	2	158008195	missense	probably damaging	0.99
R5145:Tti1	UTSW	2	158008512	missense	probably benign	0.30
R5852:Tti1	UTSW	2	158000673	missense	probably damaging	1.00
R6667:Tti1	UTSW	2	158008427	nonsense	probably null
R6714:Tti1	UTSW	2	158007051	missense	possibly damaging	0.73
R6719:Tti1	UTSW	2	157982300	missense	probably benign	0.01
R7143:Tti1	UTSW	2	158007676	missense	probably benign
R7490:Tti1	UTSW	2	157995472	missense	probably damaging	1.00
R7540:Tti1	UTSW	2	158007996	missense	probably benign	0.43
R7549:Tti1	UTSW	2	158007168	missense	probably damaging	1.00
R7641:Tti1	UTSW	2	158009029	missense	possibly damaging	0.92
R7654:Tti1	UTSW	2	158008554	missense	probably benign	0.00
R7716:Tti1	UTSW	2	158000698	missense	probably benign	0.43
R7722:Tti1	UTSW	2	158007607	missense	probably benign	0.00
R7898:Tti1	UTSW	2	157993470	missense	probably benign	0.00
R8117:Tti1	UTSW	2	158007498	missense	probably damaging	1.00
R8145:Tti1	UTSW	2	158007589	nonsense	probably null
R8249:Tti1	UTSW	2	158000715	missense	probably benign
R8712:Tti1	UTSW	2	157993010	missense	probably damaging	1.00
R8784:Tti1	UTSW	2	158008594	missense	probably benign	0.02
R8912:Tti1	UTSW	2	158009268	missense	probably benign	0.00
R9352:Tti1	UTSW	2	158000772	missense	probably benign	0.00
R9725:Tti1	UTSW	2	158007384	missense	probably benign	0.13
Z1176:Tti1	UTSW	2	157982429	missense	probably damaging	1.00

Posted On

2014-05-07