Mutagenetix > Incidental Mutation

Incidental Mutation 'R5261:Tuft1'

401423

Institutional Source

Beutler Lab

Gene Symbol

Tuft1

Ensembl Gene

ENSMUSG00000005968

Gene Name

tuftelin 1

Synonyms

MMRRC Submission

042830-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5261 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94520064-94566179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94546712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 42 (I42K)

Ref Sequence

ENSEMBL: ENSMUSP00000143416 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006123] [ENSMUST00000107276] [ENSMUST00000196496] [ENSMUST00000196655] [ENSMUST00000196733] [ENSMUST00000200407]

AlphaFold

O08970

Predicted Effect

possibly damaging
Transcript: ENSMUST00000006123
AA Change: I42K

PolyPhen 2 Score 0.645 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000006123
Gene: ENSMUSG00000005968
AA Change: I42K

Domain	Start	End	E-Value	Type
coiled coil region	88	125	N/A	INTRINSIC
coiled coil region	164	347	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107276

Predicted Effect

possibly damaging
Transcript: ENSMUST00000196496
AA Change: I42K

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

probably benign
Transcript: ENSMUST00000196655

SMART Domains

Protein: ENSMUSP00000142537
Gene: ENSMUSG00000005968

Domain	Start	End	E-Value	Type
coiled coil region	109	292	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000196733

SMART Domains

Protein: ENSMUSP00000143278
Gene: ENSMUSG00000005968

Domain	Start	End	E-Value	Type
coiled coil region	63	100	N/A	INTRINSIC
coiled coil region	139	322	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200407

SMART Domains

Protein: ENSMUSP00000143473
Gene: ENSMUSG00000005968

Domain	Start	End	E-Value	Type
coiled coil region	29	66	N/A	INTRINSIC
coiled coil region	105	174	N/A	INTRINSIC

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

96% (64/67)

MGI Phenotype

FUNCTION: Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	C	G	2: 152,282,777 (GRCm39)	P211A	probably damaging	Het
Ambra1	G	A	2: 91,715,951 (GRCm39)	V761M	probably damaging	Het
Amfr	T	A	8: 94,702,798 (GRCm39)		probably null	Het
Asphd1	C	A	7: 126,545,287 (GRCm39)	A357S	probably benign	Het
Brd3	C	A	2: 27,353,931 (GRCm39)	Q60H	probably damaging	Het
Cd96	T	A	16: 45,890,016 (GRCm39)	M336L	probably benign	Het
Cep152	T	A	2: 125,406,125 (GRCm39)	H1469L	probably benign	Het
Coro1a	G	T	7: 126,299,816 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,171,555 (GRCm39)	L871Q	probably benign	Het
Depdc5	C	T	5: 33,095,635 (GRCm39)	P824L	probably damaging	Het
Enpep	T	G	3: 129,099,075 (GRCm39)	D467A	probably damaging	Het
Extl2	G	A	3: 115,821,013 (GRCm39)	A273T	probably benign	Het
Foxi3	T	A	6: 70,937,500 (GRCm39)	F218Y	probably damaging	Het
Golga2	A	G	2: 32,194,166 (GRCm39)	M521V	probably benign	Het
Gpr142	T	A	11: 114,695,168 (GRCm39)	N44K	probably damaging	Het
Gtf2ird2	A	G	5: 134,245,061 (GRCm39)	I440V	probably benign	Het
Gucy1b2	T	A	14: 62,642,028 (GRCm39)	K698I	probably damaging	Het
Hspa1b	T	C	17: 35,177,983 (GRCm39)	M1V	probably null	Het
Ints9	T	A	14: 65,245,521 (GRCm39)	Y260N	probably benign	Het
Khdc3	T	G	9: 73,010,768 (GRCm39)	V182G	possibly damaging	Het
Ky	A	G	9: 102,414,798 (GRCm39)		probably null	Het
Map2k1	T	A	9: 64,098,843 (GRCm39)	I263F	probably damaging	Het
Or13a18	A	C	7: 140,190,576 (GRCm39)	I166L	probably benign	Het
Or2t47	T	C	11: 58,442,877 (GRCm39)	S63G	probably benign	Het
Or5ak25	A	G	2: 85,269,241 (GRCm39)	V87A	probably benign	Het
Otogl	T	A	10: 107,613,453 (GRCm39)	H2004L	probably benign	Het
Palmd	T	C	3: 116,717,009 (GRCm39)	H496R	probably benign	Het
Papolb	C	G	5: 142,515,409 (GRCm39)	R78P	possibly damaging	Het
Pcdh10	G	A	3: 45,336,247 (GRCm39)	G854R	probably damaging	Het
Pdcd11	A	G	19: 47,101,976 (GRCm39)	I1054V	probably benign	Het
Pik3ap1	A	T	19: 41,364,545 (GRCm39)	L58Q	probably damaging	Het
Ppp2ca	A	G	11: 51,989,937 (GRCm39)	K21R	probably benign	Het
Prmt5	A	C	14: 54,745,373 (GRCm39)	I598S	probably damaging	Het
Pycr1	T	A	11: 120,532,050 (GRCm39)	I239F	probably damaging	Het
R3hdm2	C	T	10: 127,334,285 (GRCm39)	R896C	probably damaging	Het
Rev3l	C	T	10: 39,722,725 (GRCm39)	P699S	probably damaging	Het
Samd1	CGAGGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGAGGA	8: 84,725,625 (GRCm39)		probably benign	Het
Sel1l	A	T	12: 91,791,658 (GRCm39)	M351K	possibly damaging	Het
Sesn2	A	G	4: 132,226,617 (GRCm39)	L159P	probably damaging	Het
Slc35f4	T	A	14: 49,540,946 (GRCm39)		probably benign	Het
Slc3a1	C	A	17: 85,359,403 (GRCm39)	N409K	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slco1c1	T	C	6: 141,492,502 (GRCm39)	F246S	probably damaging	Het
Socs2	T	G	10: 95,228,681 (GRCm39)	I190L	unknown	Het
Srsf1	T	A	11: 87,938,684 (GRCm39)	I7N	possibly damaging	Het
Stox1	T	A	10: 62,503,620 (GRCm39)	H145L	probably damaging	Het
Trap1	A	T	16: 3,874,286 (GRCm39)	I243N	probably damaging	Het
Trav7-3	T	C	14: 53,681,207 (GRCm39)	I83T	probably benign	Het
Trmt9b	T	C	8: 36,979,078 (GRCm39)	I227T	probably benign	Het
Umps	A	G	16: 33,787,344 (GRCm39)	V3A	probably benign	Het
Vim	A	C	2: 13,579,643 (GRCm39)	E134A	probably null	Het
Vmn1r28	C	A	6: 58,242,524 (GRCm39)	H122Q	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Vsig10l	T	A	7: 43,120,274 (GRCm39)	V760D	probably damaging	Het
Xrn1	A	G	9: 95,927,596 (GRCm39)	D1460G	probably benign	Het
Zfp282	A	G	6: 47,874,824 (GRCm39)	D343G	probably damaging	Het
Zfp35	A	G	18: 24,136,778 (GRCm39)	H374R	probably damaging	Het

Other mutations in Tuft1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00655:Tuft1	APN	3	94,530,091 (GRCm39)	missense	possibly damaging	0.96
IGL00816:Tuft1	APN	3	94,523,138 (GRCm39)	missense	probably damaging	0.99
IGL01339:Tuft1	APN	3	94,535,594 (GRCm39)	missense	probably damaging	0.99
IGL01364:Tuft1	APN	3	94,542,810 (GRCm39)	splice site	probably benign
IGL02012:Tuft1	APN	3	94,529,462 (GRCm39)	unclassified	probably benign
IGL02332:Tuft1	APN	3	94,523,075 (GRCm39)	critical splice donor site	probably null
IGL02400:Tuft1	APN	3	94,542,809 (GRCm39)	splice site	probably benign
IGL03155:Tuft1	APN	3	94,541,821 (GRCm39)	missense	possibly damaging	0.78
R4246:Tuft1	UTSW	3	94,522,108 (GRCm39)	missense	probably benign	0.00
R4911:Tuft1	UTSW	3	94,542,750 (GRCm39)	missense	probably damaging	0.97
R6622:Tuft1	UTSW	3	94,542,726 (GRCm39)	missense	probably damaging	1.00
R6639:Tuft1	UTSW	3	94,539,930 (GRCm39)	missense	probably benign
R6790:Tuft1	UTSW	3	94,535,537 (GRCm39)	missense	possibly damaging	0.92
R6986:Tuft1	UTSW	3	94,521,461 (GRCm39)	missense	probably damaging	1.00
R7944:Tuft1	UTSW	3	94,539,909 (GRCm39)	missense	probably benign	0.00
R8008:Tuft1	UTSW	3	94,521,440 (GRCm39)	missense	probably damaging	1.00
R8200:Tuft1	UTSW	3	94,523,977 (GRCm39)	missense	probably damaging	1.00
R8546:Tuft1	UTSW	3	94,529,420 (GRCm39)	missense	probably benign	0.08
R9232:Tuft1	UTSW	3	94,529,445 (GRCm39)	missense	probably benign	0.06
X0022:Tuft1	UTSW	3	94,542,735 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTGTCTCCCACTTCCCAAAG -3'
(R):5'- AGAGACCTAATATCCAGGGTGAC -3'

Sequencing Primer
(F):5'- CTTCCCAAAGCAGGAGGC -3'
(R):5'- ACCTGACATTGGGTGATCTGAGAATG -3'

Posted On

2016-07-06