Mutagenetix > Incidental Mutation

Incidental Mutation 'R7716:Tti1'

594901

Institutional Source

Beutler Lab

Gene Symbol

Tti1

Ensembl Gene

ENSMUSG00000027650

Gene Name

TELO2 interacting protein 1

Synonyms

2610036D13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.958) question?

Stock #

R7716 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

157981803-158028433 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 158000698 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 804 (I804F)

Ref Sequence

ENSEMBL: ENSMUSP00000029179 (fasta)

Gene Model

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

AlphaFold

Q91V83

Predicted Effect

probably benign
Transcript: ENSMUST00000029179
AA Change: I804F

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: I804F

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: I804F

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: I804F

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,869,829	C41Y	possibly damaging	Het
3110062M04Rik	T	C	6: 34,875,581	N60D	possibly damaging	Het
Abcg1	A	G	17: 31,109,519	I421V	probably benign	Het
Ank2	G	T	3: 126,943,166	T3023K	unknown	Het
Asb5	T	A	8: 54,584,986	H181Q	probably benign	Het
Asnsd1	C	T	1: 53,347,743	V242I	probably benign	Het
Atp2a1	C	A	7: 126,462,187	G46V	possibly damaging	Het
Birc6	A	G	17: 74,562,061	S335G	probably damaging	Het
Bmp1	A	T	14: 70,477,922	Y924*	probably null	Het
Ccdc3	T	A	2: 5,138,302	F123L	probably benign	Het
Col6a6	C	A	9: 105,783,903	V336L	possibly damaging	Het
Cpe	T	C	8: 64,611,397	Y256C	probably damaging	Het
Creb1	T	A	1: 64,566,261	D62E	possibly damaging	Het
Cyp4a32	T	A	4: 115,601,086	Y38N	probably damaging	Het
Dnajc1	A	G	2: 18,219,873	S390P	probably benign	Het
E430018J23Rik	T	A	7: 127,392,087	M243L	probably benign	Het
Edrf1	G	A	7: 133,643,726	E198K	probably damaging	Het
Ehmt1	A	G	2: 24,884,499	S98P	probably damaging	Het
Emsy	G	A	7: 98,599,766	A812V	unknown	Het
Eppk1	A	T	15: 76,107,503	L1726*	probably null	Het
Flnb	G	T	14: 7,917,274	K1584N	possibly damaging	Het
Gclc	C	T	9: 77,754,927	R40W	probably damaging	Het
Gm5065	T	C	7: 5,359,820	I150T	possibly damaging	Het
Gnpat	A	G	8: 124,876,934	R194G	probably benign	Het
Gpd1	G	A	15: 99,722,086	S255N	probably damaging	Het
Il17re	T	C	6: 113,462,969		probably null	Het
Inpp5d	G	A	1: 87,665,399	V74I	probably damaging	Het
Iqcb1	T	C	16: 36,867,607	S443P	probably benign	Het
Irak2	AC	ACC	6: 113,690,898		probably null	Het
Kansl1l	A	G	1: 66,801,133	V336A	probably damaging	Het
Klhdc4	T	A	8: 121,829,420	M21L	unknown	Het
Lrguk	C	T	6: 34,095,539	A588V	probably damaging	Het
March5	T	C	19: 37,220,423	Y164H	probably benign	Het
Mbip	T	A	12: 56,345,688	H38L	probably benign	Het
Megf10	GGCAGCAACAGCACCAGCAGCAACAGCACCAGCAGCA	GGCAGCAACAGCACCAGCAGCA	18: 57,293,999		probably benign	Het
Myh8	A	T	11: 67,298,652	Q1218L	possibly damaging	Het
Ndc80	A	T	17: 71,523,594	I56K	probably benign	Het
Ndufs1	T	C	1: 63,152,857	D437G	possibly damaging	Het
Nlrc4	A	G	17: 74,446,656	L244P	probably damaging	Het
Olfr304	A	T	7: 86,386,054	M202K	probably benign	Het
Olfr745	A	G	14: 50,642,358	T20A	probably benign	Het
Pdc	A	C	1: 150,330,783	D40A	probably benign	Het
Pdzd2	T	C	15: 12,373,374	Y2225C	possibly damaging	Het
Plce1	G	T	19: 38,716,851	G900V	probably benign	Het
Plpp1	A	T	13: 112,856,789	H86L	probably benign	Het
Plpp1	T	G	13: 112,859,652	F168C	probably damaging	Het
Pms1	G	A	1: 53,207,608	P312S	probably damaging	Het
Prf1	G	A	10: 61,300,155	R70H	possibly damaging	Het
Pygo1	A	G	9: 72,942,926	D19G	probably damaging	Het
Sdr42e1	T	A	8: 117,673,647		probably benign	Het
Serpinb8	C	T	1: 107,604,708	R177*	probably null	Het
Serpini1	A	C	3: 75,616,714	S210R	probably damaging	Het
Slc29a4	C	T	5: 142,718,506	P305L	probably benign	Het
Smco3	T	A	6: 136,831,249	Y209F	probably damaging	Het
Smtn	C	G	11: 3,524,708	S216T	probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Sri	T	A	5: 8,056,641		probably null	Het
Strn	G	A	17: 78,655,775	P716L	probably damaging	Het
Tmem167b	T	C	3: 108,558,897	Y69C	probably damaging	Het
Trpc7	A	T	13: 56,789,760	F628I	probably damaging	Het
Trrap	T	A	5: 144,777,146	I65N	possibly damaging	Het
Tspan14	C	A	14: 40,911,133	G201C	probably damaging	Het
Unc5b	C	T	10: 60,777,438	G340R	probably damaging	Het
Usp13	C	A	3: 32,837,856	Y61*	probably null	Het
Vmn1r230	T	C	17: 20,846,882	M111T	possibly damaging	Het
Vmn2r26	T	A	6: 124,061,745	Y760N	probably damaging	Het
Vmn2r87	A	G	10: 130,472,149	V740A	probably benign	Het
Zbtb14	A	G	17: 69,387,420	I38V	probably benign	Het
Zfp623	T	C	15: 75,948,422	I409T	probably damaging	Het

Other mutations in Tti1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Tti1	APN	2	158008965	missense	probably damaging	1.00
IGL00434:Tti1	APN	2	158008966	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
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
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'- GTGCACAGGATAAGTTTTGGAGC -3'
(R):5'- GGATAGTTCAGAGCCATGCCAG -3'

Sequencing Primer
(F):5'- GGAGCAACTTTTTTTCTGC -3'
(R):5'- ATAGTTCAGAGCCATGCCAGTCTTG -3'

Posted On

2019-11-12