Mutagenetix > Incidental Mutation

Incidental Mutation 'R4479:Tti1'

331387

Institutional Source

Beutler Lab

Gene Symbol

Tti1

Ensembl Gene

ENSMUSG00000027650

Gene Name

TELO2 interacting protein 1

Synonyms

2610036D13Rik

MMRRC Submission

041736-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R4479 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

157981803-158028433 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 158008395 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 308 (L308Q)

Ref Sequence

ENSEMBL: ENSMUSP00000105148 (fasta)

Gene Model

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

AlphaFold

Q91V83

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029179
AA Change: L308Q

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: L308Q

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: L308Q

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: L308Q

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

Meta Mutation Damage Score

0.4659

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

95% (36/38)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc6	T	C	7: 46,005,239	T553A	possibly damaging	Het
Adamts20	C	T	15: 94,403,445	R66H	probably damaging	Het
Anks1b	A	G	10: 90,049,892	E150G	probably damaging	Het
Chp2	A	G	7: 122,220,918	D97G	probably benign	Het
Cnbd2	T	C	2: 156,333,653		probably benign	Het
D130040H23Rik	C	A	8: 69,302,503	H187N	possibly damaging	Het
Dusp15	A	G	2: 152,944,182	L135P	probably damaging	Het
Eif4g1	G	T	16: 20,678,843		probably benign	Het
Erlin2	G	T	8: 27,025,099	V10L	probably benign	Het
F830104G03Rik	A	G	3: 56,890,213	S98P	unknown	Het
Fat3	G	A	9: 15,998,271	S2145F	probably damaging	Het
Gm3159	T	C	14: 4,398,584	Y92H	probably damaging	Het
Ighv1-22	G	T	12: 114,746,663	A15E	possibly damaging	Het
Ints4	T	C	7: 97,484,971	S37P	probably damaging	Het
Irs1	G	A	1: 82,287,294	T1067I	probably damaging	Het
Lrrc28	C	T	7: 67,531,614		probably null	Het
Olfr1243	A	G	2: 89,528,170	I80T	possibly damaging	Het
Olfr1420	A	G	19: 11,896,558	Y179C	probably damaging	Het
Olfr206	G	A	16: 59,344,867	T278I	probably damaging	Het
Psg18	C	T	7: 18,350,862	S103N	probably benign	Het
Psma3	T	C	12: 70,984,781		probably benign	Het
Slc7a11	T	C	3: 50,417,963		probably benign	Het
Tas2r115	T	C	6: 132,737,532	D152G	probably damaging	Het
Unc93b1	G	A	19: 3,935,236	A15T	probably benign	Het
Usp43	G	A	11: 67,856,407	R820C	possibly damaging	Het
Vmn2r68	TCC	TC	7: 85,221,550		probably null	Het
Vps8	A	T	16: 21,545,236		probably benign	Het
Wdr73	T	C	7: 80,893,221	E213G	probably benign	Het
Zfp286	C	G	11: 62,780,204	G348R	probably damaging	Het
Zkscan5	T	C	5: 145,211,174		probably benign	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
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
Z1176:Tti1	UTSW	2	157982429	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GACAAGATGTCAGCCAAGGC -3'
(R):5'- ACAGTGGGCTTCATCATGG -3'

Sequencing Primer
(F):5'- GGCTCTGCTGCCCACTAC -3'
(R):5'- TCACAGAGAAGCAGACTG -3'

Posted On

2015-07-21