Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Tti1'

191185

Institutional Source

Beutler Lab

Gene Symbol

Tti1

Ensembl Gene

ENSMUSG00000027650

Gene Name

TELO2 interacting protein 1

Synonyms

2610036D13Rik

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R1718 (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 158008224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 365 (V365E)

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: V365E

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: V365E

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: V365E

PolyPhen 2 Score 0.398 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: V365E

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

0.2023

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,245,370		probably benign	Het
Acot3	T	G	12: 84,053,943		probably null	Het
Acox1	A	T	11: 116,174,682	C523*	probably null	Het
Adamts19	G	A	18: 58,972,825	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Apob	A	G	12: 8,016,087	K4319R	probably benign	Het
AU016765	A	C	17: 64,555,438		noncoding transcript	Het
Bpifb1	T	A	2: 154,213,983		probably null	Het
Btn2a2	A	G	13: 23,481,936	V242A	probably benign	Het
Camta1	A	G	4: 151,084,024	S1281P	probably benign	Het
Ccdc116	T	C	16: 17,141,908	K306E	probably benign	Het
Cemip	A	G	7: 83,935,658	V1350A	probably benign	Het
Clip2	A	T	5: 134,502,929	L674*	probably null	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Cyp4x1	A	G	4: 115,111,670	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,168,079	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,990,983	Y318C	probably damaging	Het
Fras1	A	T	5: 96,554,889		probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm28042	T	A	2: 120,036,391	S172T	possibly damaging	Het
Gm7808	T	A	9: 19,928,003		probably benign	Het
Gm8909	A	G	17: 36,161,784		probably benign	Het
Gpr61	C	T	3: 108,150,380	V322M	possibly damaging	Het
Hapln3	A	G	7: 79,123,450	V15A	unknown	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klk1b4	A	G	7: 44,209,672	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,115,555	K561E	probably damaging	Het
Map3k1	A	G	13: 111,755,419	C1101R	probably benign	Het
Mcoln2	A	G	3: 146,190,474		probably benign	Het
Mfsd2b	G	A	12: 4,869,037	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,975,203	V19I	probably benign	Het
Mgme1	T	A	2: 144,272,318	D113E	probably benign	Het
Mki67	A	G	7: 135,695,494	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,831,644	I125V	probably benign	Het
Mrps9	G	A	1: 42,903,399	R339H	probably damaging	Het
Ndst1	T	C	18: 60,707,803	D269G	probably damaging	Het
Nedd9	T	C	13: 41,338,926	N30S	probably damaging	Het
Notch4	G	A	17: 34,576,763		probably benign	Het
Olfr1095	A	T	2: 86,851,187	N170K	probably benign	Het
Olfr250	A	G	9: 38,367,594	D6G	probably benign	Het
Olfr877	G	A	9: 37,855,453	V212I	probably benign	Het
Olfr995	T	C	2: 85,438,805	M118V	probably benign	Het
Papss1	C	A	3: 131,619,185	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,871,523		probably benign	Het
Rab11fip2	A	G	19: 59,935,649	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,443,280	Y554*	probably null	Het
Rem2	T	C	14: 54,479,150	V240A	probably damaging	Het
Retsat	T	C	6: 72,602,671	V143A	probably benign	Het
Rnf141	G	T	7: 110,821,273	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,942,017	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,204,339	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,468,998		probably benign	Het
Smchd1	A	T	17: 71,448,833	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,594,385	H66Y	probably benign	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Speg	A	G	1: 75,421,744	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 124,898,357	V67A	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 85,071,738	E997D	probably benign	Het
Tulp4	A	G	17: 6,222,440	I590V	probably benign	Het
Vmn2r61	A	G	7: 42,300,697	D847G	probably benign	Het
Zfp184	A	G	13: 21,959,272	T383A	possibly damaging	Het
Zik1	T	A	7: 10,492,341	E33V	probably damaging	Het
Zik1	C	A	7: 10,492,342	E33*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGACATCAGTCACCTCTAGCTCCAG -3'
(R):5'- GTAGTTGAGCACAGAGTAGCAGCC -3'

Sequencing Primer
(F):5'- CTCTAGCTCCAGTACTTGGATGAG -3'
(R):5'- AGTAGCAGCCCTGATGATTC -3'

Posted On

2014-05-14