Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:Tti1'

527008

Institutional Source

Beutler Lab

Gene Symbol

Tti1

Ensembl Gene

ENSMUSG00000027650

Gene Name

TELO2 interacting protein 1

Synonyms

2610036D13Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R6667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

157981803-158028433 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 158008427 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 297 (C297*)

Ref Sequence

ENSEMBL: ENSMUSP00000105148 (fasta)

Gene Model

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

AlphaFold

Q91V83

Predicted Effect

probably null
Transcript: ENSMUST00000029179
AA Change: C297*

SMART Domains

Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: C297*

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 null
Transcript: ENSMUST00000109522
AA Change: C297*

SMART Domains

Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: C297*

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,610,642	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,315,749	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,307,740	E661G	probably damaging	Het
Ankrd26	C	T	6: 118,507,788	S1496N	probably benign	Het
Asah2	T	C	19: 31,995,358	N659S	probably benign	Het
Atp12a	T	C	14: 56,384,188	V760A	possibly damaging	Het
Casp2	T	C	6: 42,279,836	C343R	probably damaging	Het
Cblb	T	A	16: 52,152,644	M446K	possibly damaging	Het
Cipc	T	C	12: 86,962,090	V241A	probably benign	Het
Ddit4l	A	G	3: 137,626,121	K83E	probably benign	Het
E430018J23Rik	A	G	7: 127,393,423	M5T	probably benign	Het
Epc2	A	G	2: 49,522,669	T220A	probably damaging	Het
Epha5	T	C	5: 84,071,191	D741G	probably damaging	Het
Flg2	A	T	3: 93,201,761	R365S	possibly damaging	Het
Ggn	A	T	7: 29,172,668	H491L	possibly damaging	Het
Gm21119	T	C	8: 20,621,939	S267P	probably benign	Het
Gm8332	A	T	12: 88,249,705	D132E	unknown	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,406,532	V100A	probably benign	Het
Invs	A	T	4: 48,402,870	Y501F	possibly damaging	Het
Iqcm	G	T	8: 75,753,352	G313W	probably damaging	Het
Jph2	A	G	2: 163,376,286	S157P	probably damaging	Het
Mast4	T	C	13: 102,737,496	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,676,934	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,321,323	L837P	probably damaging	Het
Neb	G	A	2: 52,147,189	T6836I	probably damaging	Het
Nol12	T	A	15: 78,940,080	D133E	probably benign	Het
Olfr1136	A	G	2: 87,693,570	V104A	probably benign	Het
Oxtr	C	A	6: 112,477,099		probably benign	Het
Pcmt1	A	G	10: 7,663,149	L38P	probably damaging	Het
Pik3r2	T	C	8: 70,769,173	Y617C	probably damaging	Het
Prl7a2	T	C	13: 27,661,041	N121D	probably benign	Het
Pvr	G	T	7: 19,905,802	Q380K	probably benign	Het
Rtn2	A	G	7: 19,287,259	E188G	probably benign	Het
Setd4	C	A	16: 93,590,030	R260L	probably benign	Het
Six5	A	G	7: 19,096,569	N374D	probably benign	Het
Slc9b1	T	C	3: 135,371,965	I140T	probably damaging	Het
Supt16	A	G	14: 52,172,063	F797L	probably damaging	Het
Tbata	T	C	10: 61,185,363	L262P	probably damaging	Het
Ush1c	C	A	7: 46,225,624	G139C	probably damaging	Het
Vmn1r1	C	T	1: 182,157,777	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,401,092	T600I	probably damaging	Het
Zfp873	A	G	10: 82,060,589	T422A	probably benign	Het
Zfp943	G	A	17: 21,992,908	C325Y	probably 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
IGL01866:Tti1	APN	2	158007698	missense	probably benign	0.27
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
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

Predicted Primers

PCR Primer
(F):5'- AAGACGCCTCAGCACTGTAC -3'
(R):5'- TAAACAAGGTCACAGCATTGTCG -3'

Sequencing Primer
(F):5'- TCAGCACTGTACTGCACCG -3'
(R):5'- ACAGCATTGTCGTGTCTTCTCTAAAG -3'

Posted On

2018-07-23