Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01339:Tuft1'

74737

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tuft1

Ensembl Gene

ENSMUSG00000005968

Gene Name

tuftelin 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01339

Quality Score

Status

Chromosome

Chromosomal Location

94520064-94566179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94535594 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 109 (D109E)

Ref Sequence

ENSEMBL: ENSMUSP00000143473 (fasta)

Gene Model

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

AlphaFold

O08970

Predicted Effect

probably benign
Transcript: ENSMUST00000006123
AA Change: D168E

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000006123
Gene: ENSMUSG00000005968
AA Change: D168E

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: ENSMUST00000196655
AA Change: D113E

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000142537
Gene: ENSMUSG00000005968
AA Change: D113E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000196733
AA Change: D143E

PolyPhen 2 Score 0.414 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143278
Gene: ENSMUSG00000005968
AA Change: D143E

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 damaging
Transcript: ENSMUST00000200407
AA Change: D109E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000143473
Gene: ENSMUSG00000005968
AA Change: D109E

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

Coding Region Coverage

Validation Efficiency

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bahcc1	A	G	11: 120,180,338 (GRCm39)	T2565A	probably damaging	Het
C8a	A	C	4: 104,685,182 (GRCm39)	F354V	probably benign	Het
Cadps	C	T	14: 12,486,543 (GRCm38)	V876M	possibly damaging	Het
Chmp7	A	T	14: 69,956,855 (GRCm39)	I351N	probably damaging	Het
Clec7a	A	T	6: 129,442,449 (GRCm39)	W193R	probably damaging	Het
Clint1	T	C	11: 45,799,846 (GRCm39)	V535A	probably benign	Het
Clu	A	G	14: 66,213,037 (GRCm39)	E141G	probably damaging	Het
Cmah	A	T	13: 24,614,532 (GRCm39)	D159V	probably damaging	Het
Cntn2	A	T	1: 132,446,643 (GRCm39)		probably null	Het
Cox6a1	C	A	5: 115,483,898 (GRCm39)		probably benign	Het
Cyp2d10	C	T	15: 82,288,042 (GRCm39)	A195T	probably benign	Het
Dnah10	G	T	5: 124,854,276 (GRCm39)	K1901N	probably damaging	Het
Dnai3	T	C	3: 145,748,591 (GRCm39)	Y841C	probably benign	Het
Dop1a	G	A	9: 86,433,730 (GRCm39)	D2329N	possibly damaging	Het
Eipr1	A	G	12: 28,914,770 (GRCm39)	E308G	probably damaging	Het
Exoc4	T	C	6: 33,282,335 (GRCm39)		probably benign	Het
Fancd2	A	G	6: 113,530,713 (GRCm39)	I449V	probably benign	Het
Fbn2	T	C	18: 58,246,442 (GRCm39)	T487A	possibly damaging	Het
Fbxo40	T	C	16: 36,790,816 (GRCm39)	E98G	probably damaging	Het
Folh1	G	A	7: 86,375,306 (GRCm39)	T527I	probably damaging	Het
Gls	C	T	1: 52,227,867 (GRCm39)	D217N	probably damaging	Het
Gm6994	A	G	14: 77,718,618 (GRCm39)		probably benign	Het
Gpr149	A	T	3: 62,511,718 (GRCm39)	W94R	probably damaging	Het
Gpr158	A	G	2: 21,373,842 (GRCm39)	D259G	possibly damaging	Het
Hcn2	T	C	10: 79,564,902 (GRCm39)	L438P	probably damaging	Het
Hgd	A	C	16: 37,452,092 (GRCm39)	T374P	possibly damaging	Het
Ints3	A	G	3: 90,322,463 (GRCm39)		probably null	Het
Kctd5	A	T	17: 24,276,749 (GRCm39)	V172E	probably damaging	Het
Lmcd1	A	G	6: 112,287,586 (GRCm39)	I91V	probably benign	Het
Lrrc37a	A	G	11: 103,388,763 (GRCm39)	S2221P	unknown	Het
Ltk	T	A	2: 119,583,455 (GRCm39)	D310V	probably damaging	Het
Luzp1	T	A	4: 136,270,087 (GRCm39)	M770K	probably damaging	Het
Mxd4	G	A	5: 34,341,690 (GRCm39)		probably benign	Het
Mzb1	T	A	18: 35,781,399 (GRCm39)	H71L	probably benign	Het
Necap2	G	A	4: 140,802,276 (GRCm39)	T63I	probably benign	Het
Nefl	A	G	14: 68,323,931 (GRCm39)		probably benign	Het
Odam	G	A	5: 88,033,755 (GRCm39)		probably null	Het
Pcdh18	A	G	3: 49,710,247 (GRCm39)	I356T	probably benign	Het
Pcx	T	A	19: 4,670,263 (GRCm39)		probably null	Het
Pde2a	T	C	7: 101,156,366 (GRCm39)	S593P	probably benign	Het
Rapgef3	A	T	15: 97,655,940 (GRCm39)	L359M	probably damaging	Het
Rb1	T	C	14: 73,501,811 (GRCm39)		probably null	Het
Rbm44	A	G	1: 91,096,686 (GRCm39)	I976V	probably benign	Het
Rdh13	A	T	7: 4,430,623 (GRCm39)	S278R	probably damaging	Het
Rgma	A	G	7: 73,067,231 (GRCm39)	E256G	probably damaging	Het
Rnf112	A	T	11: 61,341,303 (GRCm39)	D402E	probably benign	Het
Rnps1	T	A	17: 24,641,273 (GRCm39)	D224E	probably damaging	Het
Scn10a	C	T	9: 119,451,832 (GRCm39)	V1364M	probably damaging	Het
Scn1a	C	T	2: 66,156,304 (GRCm39)	R535H	probably benign	Het
Scn8a	A	T	15: 100,930,082 (GRCm39)	D1431V	probably benign	Het
Setdb1	A	T	3: 95,245,891 (GRCm39)	L677*	probably null	Het
Slc17a8	T	A	10: 89,427,106 (GRCm39)	I148F	probably damaging	Het
Slx4ip	T	A	2: 136,885,975 (GRCm39)	C98*	probably null	Het
Sptbn2	T	G	19: 4,796,000 (GRCm39)	Y1726*	probably null	Het
Tcof1	T	C	18: 60,951,167 (GRCm39)		probably benign	Het
Tdrd3	G	A	14: 87,718,230 (GRCm39)	V210I	possibly damaging	Het
Tdrd9	G	A	12: 112,006,868 (GRCm39)	V911M	probably damaging	Het
Tmod4	G	A	3: 95,035,608 (GRCm39)	R252H	probably benign	Het
Tti1	G	T	2: 157,851,050 (GRCm39)	P63Q	possibly damaging	Het
Zcchc2	T	C	1: 105,957,505 (GRCm39)	S659P	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
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
R5261:Tuft1	UTSW	3	94,546,712 (GRCm39)	missense	possibly damaging	0.83
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

Posted On

2013-10-07