Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02332:Tuft1'

288756

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 #

IGL02332

Quality Score

Status

Chromosome

Chromosomal Location

94520064-94566179 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 94523075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143278 (fasta)

Gene Model

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

AlphaFold

O08970

Predicted Effect

probably null
Transcript: ENSMUST00000006123

SMART Domains

Protein: ENSMUSP00000006123
Gene: ENSMUSG00000005968

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 null
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 null
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

noncoding transcript
Transcript: ENSMUST00000198456

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018B24Rik	A	G	3: 48,563,323 (GRCm39)		noncoding transcript	Het
Abca13	A	T	11: 9,241,482 (GRCm39)	Y1115F	probably damaging	Het
Adam29	T	A	8: 56,324,775 (GRCm39)	I560F	probably damaging	Het
Bivm	T	C	1: 44,167,880 (GRCm39)		probably benign	Het
Brinp1	C	A	4: 68,823,121 (GRCm39)	R24L	probably benign	Het
Cnga1	A	G	5: 72,761,829 (GRCm39)	Y562H	probably damaging	Het
Cr2	C	A	1: 194,842,630 (GRCm39)	Q256H	probably benign	Het
Dhcr7	A	T	7: 143,396,865 (GRCm39)	N119I	probably damaging	Het
Dio1	A	T	4: 107,150,978 (GRCm39)	Y169N	probably damaging	Het
Dmbt1	C	T	7: 130,668,343 (GRCm39)		probably benign	Het
Eogt	T	G	6: 97,102,566 (GRCm39)	H249P	probably damaging	Het
Ermard	A	C	17: 15,210,807 (GRCm39)		probably null	Het
Exoc4	T	C	6: 33,226,175 (GRCm39)		probably null	Het
Fxr2	G	T	11: 69,540,664 (GRCm39)		probably null	Het
Glyr1	G	T	16: 4,836,817 (GRCm39)	T443N	probably damaging	Het
Gm14137	T	G	2: 119,005,807 (GRCm39)	L122R	probably damaging	Het
Gm4845	C	A	1: 141,184,335 (GRCm39)		noncoding transcript	Het
Gm8258	A	G	5: 104,923,768 (GRCm39)		noncoding transcript	Het
Gmps	G	A	3: 63,897,990 (GRCm39)	R258H	probably benign	Het
Itga6	T	G	2: 71,668,717 (GRCm39)	L552R	possibly damaging	Het
Itgam	T	A	7: 127,684,846 (GRCm39)		probably null	Het
Itgb5	G	T	16: 33,740,500 (GRCm39)	E224*	probably null	Het
Itih4	C	A	14: 30,609,817 (GRCm39)	A49D	probably damaging	Het
Itpr2	A	T	6: 146,328,040 (GRCm39)	N64K	probably damaging	Het
Moap1	T	C	12: 102,709,066 (GRCm39)	Y161C	probably benign	Het
Mst1r	G	T	9: 107,785,025 (GRCm39)	G228*	probably null	Het
Myo1g	T	C	11: 6,470,766 (GRCm39)	D30G	possibly damaging	Het
Ndn	T	A	7: 61,998,573 (GRCm39)	C140S	probably damaging	Het
Nek5	G	T	8: 22,585,277 (GRCm39)	Q367K	probably benign	Het
Nrdc	A	T	4: 108,858,185 (GRCm39)	R52S	probably damaging	Het
Nup133	A	T	8: 124,634,571 (GRCm39)	L1007Q	probably damaging	Het
Or51k2	T	C	7: 103,596,127 (GRCm39)	M118T	probably damaging	Het
Or5be3	T	C	2: 86,864,556 (GRCm39)	D3G	probably benign	Het
Or5d47	A	T	2: 87,804,409 (GRCm39)	L200Q	probably damaging	Het
P2rx2	T	C	5: 110,489,671 (GRCm39)	S116G	probably benign	Het
Pcdhb13	G	A	18: 37,576,635 (GRCm39)	V338M	probably benign	Het
Pdcl2	A	T	5: 76,466,982 (GRCm39)	Y70*	probably null	Het
Ppm1e	T	C	11: 87,122,568 (GRCm39)	H463R	probably benign	Het
Ppm1f	T	A	16: 16,731,951 (GRCm39)	C134S	possibly damaging	Het
Ppp2r3d	A	G	9: 101,057,602 (GRCm39)	F180L	possibly damaging	Het
Pxn	A	G	5: 115,682,985 (GRCm39)	S96G	probably benign	Het
Rasa4	G	T	5: 136,124,453 (GRCm39)	Q167H	probably benign	Het
Rfx8	T	C	1: 39,757,640 (GRCm39)	I43V	possibly damaging	Het
Sez6	C	T	11: 77,845,568 (GRCm39)		probably benign	Het
Slc39a6	A	T	18: 24,722,880 (GRCm39)	D473E	probably benign	Het
Spocd1	A	G	4: 129,842,885 (GRCm39)	D68G	probably damaging	Het
Syt13	T	C	2: 92,771,149 (GRCm39)	F79L	probably benign	Het
Tas2r103	A	T	6: 133,013,475 (GRCm39)	M197K	probably benign	Het
Tbrg4	A	G	11: 6,568,492 (GRCm39)	V429A	probably damaging	Het
Uqcrc1	A	G	9: 108,776,937 (GRCm39)	T80A	probably damaging	Het
Vps18	A	G	2: 119,124,291 (GRCm39)	N406S	probably benign	Het
Xrn2	T	A	2: 146,868,510 (GRCm39)	W188R	probably damaging	Het
Zzef1	T	G	11: 72,807,335 (GRCm39)	S2738A	probably benign	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
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

2015-04-16