Mutagenetix > Incidental Mutation

Incidental Mutation 'R2054:Tti1'

226495

Institutional Source

Beutler Lab

Gene Symbol

Tti1

Ensembl Gene

ENSMUSG00000027650

Gene Name

TELO2 interacting protein 1

Synonyms

2610036D13Rik

MMRRC Submission

040059-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.947) question?

Stock #

R2054 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

157823723-157870353 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 157849365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 625 (Q625K)

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: Q625K

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029179
Gene: ENSMUSG00000027650
AA Change: Q625K

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: Q625K

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000105148
Gene: ENSMUSG00000027650
AA Change: Q625K

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

0.1216

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,562 (GRCm39)	C94S	possibly damaging	Het
A930011G23Rik	T	C	5: 99,375,914 (GRCm39)	Y432C	probably benign	Het
Abtb2	A	G	2: 103,535,462 (GRCm39)	D543G	probably benign	Het
Adam9	A	T	8: 25,481,310 (GRCm39)	V318E	probably damaging	Het
Aim2	T	C	1: 173,291,548 (GRCm39)	F318L	probably damaging	Het
Apob	A	T	12: 8,063,134 (GRCm39)	D3872V	probably damaging	Het
Atat1	T	A	17: 36,212,261 (GRCm39)	R323W	probably null	Het
Atp2b4	T	C	1: 133,642,907 (GRCm39)	D1066G	probably benign	Het
Bltp1	A	G	3: 37,002,002 (GRCm39)	T1316A	probably benign	Het
Caskin2	T	C	11: 115,697,127 (GRCm39)		probably benign	Het
Cblif	G	A	19: 11,736,370 (GRCm39)	V314I	probably benign	Het
Ccdc54	T	A	16: 50,410,987 (GRCm39)	N93I	probably damaging	Het
Ccnd1	A	C	7: 144,491,128 (GRCm39)	D159E	possibly damaging	Het
Cnot1	A	C	8: 96,466,469 (GRCm39)	S1589R	possibly damaging	Het
Copa	T	A	1: 171,946,524 (GRCm39)	Y980*	probably null	Het
Defb19	A	G	2: 152,418,090 (GRCm39)	I82T	possibly damaging	Het
Elapor2	C	A	5: 9,513,030 (GRCm39)	T1008K	possibly damaging	Het
Fiz1	G	A	7: 5,011,235 (GRCm39)	R428C	probably damaging	Het
Fnip2	A	T	3: 79,479,772 (GRCm39)		probably benign	Het
Gabrb3	G	A	7: 57,474,241 (GRCm39)	G408S	probably benign	Het
Hao1	C	T	2: 134,340,178 (GRCm39)		silent	Het
Hecw1	T	A	13: 14,471,998 (GRCm39)	M557L	probably damaging	Het
Itch	A	T	2: 155,052,496 (GRCm39)	I699F	probably damaging	Het
Kmt2a	T	C	9: 44,734,671 (GRCm39)		probably benign	Het
Leng8	T	G	7: 4,147,289 (GRCm39)	Y562*	probably null	Het
Lonrf2	G	A	1: 38,852,357 (GRCm39)	P165S	probably benign	Het
Lrp1b	A	T	2: 40,587,494 (GRCm39)	N151K	unknown	Het
Lrrc71	T	C	3: 87,649,980 (GRCm39)	E316G	probably damaging	Het
Mgat5	A	G	1: 127,325,344 (GRCm39)	N404D	probably damaging	Het
Mrps26	C	A	2: 130,406,087 (GRCm39)	T100K	probably benign	Het
Mtor	A	G	4: 148,547,309 (GRCm39)	T431A	probably benign	Het
Mtor	T	A	4: 148,550,482 (GRCm39)	C713S	probably benign	Het
Mug2	A	G	6: 122,054,451 (GRCm39)	K1077E	probably damaging	Het
Nbas	A	G	12: 13,524,207 (GRCm39)	T1688A	probably benign	Het
Nek2	T	C	1: 191,553,764 (GRCm39)	S3P	possibly damaging	Het
Nell2	T	C	15: 95,332,990 (GRCm39)	T190A	probably benign	Het
Npr2	A	T	4: 43,646,560 (GRCm39)	N636I	probably damaging	Het
Orc3	A	T	4: 34,584,846 (GRCm39)	I453K	probably damaging	Het
Pcnx1	A	G	12: 81,980,448 (GRCm39)	H865R	probably benign	Het
Pex1	T	C	5: 3,653,341 (GRCm39)	V80A	possibly damaging	Het
Phka2	T	A	X: 159,337,323 (GRCm39)	D424E	probably damaging	Het
Pkd1	C	T	17: 24,793,770 (GRCm39)	T1819I	probably benign	Het
Poglut1	T	C	16: 38,355,169 (GRCm39)	D219G	probably damaging	Het
Ppargc1a	T	C	5: 51,631,130 (GRCm39)	I500V	possibly damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Pygm	C	G	19: 6,438,185 (GRCm39)	N163K	probably benign	Het
Qrich1	T	A	9: 108,436,469 (GRCm39)	N722K	possibly damaging	Het
Reep6	T	A	10: 80,166,156 (GRCm39)	C104*	probably null	Het
Rfx8	A	G	1: 39,724,719 (GRCm39)	V214A	possibly damaging	Het
Sis	G	A	3: 72,820,570 (GRCm39)	T1398I	probably benign	Het
Skint5	A	G	4: 113,676,360 (GRCm39)		probably null	Het
Slc7a14	A	G	3: 31,291,511 (GRCm39)		probably benign	Het
Smc2	T	A	4: 52,462,948 (GRCm39)	M646K	probably benign	Het
Snx29	A	G	16: 11,449,356 (GRCm39)	N165S	probably damaging	Het
Supt6	T	A	11: 78,115,187 (GRCm39)		probably benign	Het
Tead4	G	T	6: 128,247,925 (GRCm39)	S37R	probably damaging	Het
Tedc2	T	A	17: 24,435,291 (GRCm39)	E366V	probably damaging	Het
Tedc2	C	A	17: 24,435,292 (GRCm39)	E366*	probably null	Het
Tex56	T	A	13: 35,108,574 (GRCm39)	Y19N	probably damaging	Het
Tff2	T	C	17: 31,362,199 (GRCm39)	K40E	probably benign	Het
Traip	C	T	9: 107,840,118 (GRCm39)	T265M	probably benign	Het
Trim47	T	C	11: 115,999,109 (GRCm39)	T256A	probably benign	Het
Trpm1	A	G	7: 63,890,303 (GRCm39)	M853V	possibly damaging	Het
Ube2n	A	G	10: 95,377,128 (GRCm39)	N31S	probably damaging	Het
Vmn2r17	T	C	5: 109,600,352 (GRCm39)	M550T	probably damaging	Het
Zfp512	T	A	5: 31,622,793 (GRCm39)	N31K	probably benign	Het
Zfp64	A	G	2: 168,767,728 (GRCm39)	V628A	probably damaging	Het

Other mutations in Tti1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Tti1	APN	2	157,850,885 (GRCm39)	missense	probably damaging	1.00
IGL00434:Tti1	APN	2	157,850,886 (GRCm39)	missense	probably damaging	1.00
IGL00820:Tti1	APN	2	157,850,888 (GRCm39)	missense	probably damaging	1.00
IGL00949:Tti1	APN	2	157,824,319 (GRCm39)	missense	probably benign	0.00
IGL01080:Tti1	APN	2	157,824,379 (GRCm39)	missense	probably damaging	1.00
IGL01084:Tti1	APN	2	157,824,379 (GRCm39)	missense	probably damaging	1.00
IGL01339:Tti1	APN	2	157,851,050 (GRCm39)	missense	possibly damaging	0.80
IGL01685:Tti1	APN	2	157,842,705 (GRCm39)	missense	probably benign	0.01
IGL01866:Tti1	APN	2	157,849,618 (GRCm39)	missense	probably benign	0.27
IGL01903:Tti1	APN	2	157,842,542 (GRCm39)	missense	probably benign	0.01
IGL03142:Tti1	APN	2	157,842,597 (GRCm39)	missense	probably damaging	0.99
IGL03173:Tti1	APN	2	157,848,932 (GRCm39)	unclassified	probably benign
IGL03385:Tti1	APN	2	157,834,945 (GRCm39)	missense	possibly damaging	0.86
R0413:Tti1	UTSW	2	157,837,396 (GRCm39)	missense	probably benign	0.00
R0601:Tti1	UTSW	2	157,835,292 (GRCm39)	missense	probably damaging	0.99
R1718:Tti1	UTSW	2	157,850,144 (GRCm39)	missense	probably benign	0.40
R1760:Tti1	UTSW	2	157,834,955 (GRCm39)	missense	possibly damaging	0.87
R1761:Tti1	UTSW	2	157,849,617 (GRCm39)	missense	probably benign	0.01
R1968:Tti1	UTSW	2	157,850,966 (GRCm39)	missense	possibly damaging	0.66
R2131:Tti1	UTSW	2	157,842,663 (GRCm39)	missense	probably benign
R3886:Tti1	UTSW	2	157,850,870 (GRCm39)	missense	possibly damaging	0.74
R4479:Tti1	UTSW	2	157,850,315 (GRCm39)	missense	possibly damaging	0.95
R4647:Tti1	UTSW	2	157,848,940 (GRCm39)	unclassified	probably benign
R5124:Tti1	UTSW	2	157,850,115 (GRCm39)	missense	probably damaging	0.99
R5145:Tti1	UTSW	2	157,850,432 (GRCm39)	missense	probably benign	0.30
R5852:Tti1	UTSW	2	157,842,593 (GRCm39)	missense	probably damaging	1.00
R6667:Tti1	UTSW	2	157,850,347 (GRCm39)	nonsense	probably null
R6714:Tti1	UTSW	2	157,848,971 (GRCm39)	missense	possibly damaging	0.73
R6719:Tti1	UTSW	2	157,824,220 (GRCm39)	missense	probably benign	0.01
R7143:Tti1	UTSW	2	157,849,596 (GRCm39)	missense	probably benign
R7490:Tti1	UTSW	2	157,837,392 (GRCm39)	missense	probably damaging	1.00
R7540:Tti1	UTSW	2	157,849,916 (GRCm39)	missense	probably benign	0.43
R7549:Tti1	UTSW	2	157,849,088 (GRCm39)	missense	probably damaging	1.00
R7641:Tti1	UTSW	2	157,850,949 (GRCm39)	missense	possibly damaging	0.92
R7654:Tti1	UTSW	2	157,850,474 (GRCm39)	missense	probably benign	0.00
R7716:Tti1	UTSW	2	157,842,618 (GRCm39)	missense	probably benign	0.43
R7722:Tti1	UTSW	2	157,849,527 (GRCm39)	missense	probably benign	0.00
R7898:Tti1	UTSW	2	157,835,390 (GRCm39)	missense	probably benign	0.00
R8117:Tti1	UTSW	2	157,849,418 (GRCm39)	missense	probably damaging	1.00
R8145:Tti1	UTSW	2	157,849,509 (GRCm39)	nonsense	probably null
R8249:Tti1	UTSW	2	157,842,635 (GRCm39)	missense	probably benign
R8712:Tti1	UTSW	2	157,834,930 (GRCm39)	missense	probably damaging	1.00
R8784:Tti1	UTSW	2	157,850,514 (GRCm39)	missense	probably benign	0.02
R8912:Tti1	UTSW	2	157,851,188 (GRCm39)	missense	probably benign	0.00
R9352:Tti1	UTSW	2	157,842,692 (GRCm39)	missense	probably benign	0.00
R9725:Tti1	UTSW	2	157,849,304 (GRCm39)	missense	probably benign	0.13
Z1176:Tti1	UTSW	2	157,824,349 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACAGAGTTGTAGCCACAAGCG -3'
(R):5'- TCATAACAAATGTCCAAGCATGGG -3'

Sequencing Primer
(F):5'- CGTGGCAAATATCTACCATGGTGC -3'
(R):5'- CATGGGCCCAGAGGAGTTG -3'

Posted On

2014-09-17