Mutagenetix > Incidental Mutation

Incidental Mutation 'R0137:Ttyh1'

22026

Institutional Source

Beutler Lab

Gene Symbol

Ttyh1

Ensembl Gene

ENSMUSG00000030428

Gene Name

tweety family member 1

Synonyms

tty, 4930459B04Rik, 6330408P11Rik

MMRRC Submission

038422-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0137 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

4122418-4139206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4127719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 136 (I136F)

Ref Sequence

ENSEMBL: ENSMUSP00000120182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032594] [ENSMUST00000079415] [ENSMUST00000119661] [ENSMUST00000129423] [ENSMUST00000206869] [ENSMUST00000206987] [ENSMUST00000153673]

AlphaFold

Q9D3A9

Predicted Effect

silent
Transcript: ENSMUST00000032594

SMART Domains

Protein: ENSMUSP00000032594
Gene: ENSMUSG00000030428

Domain	Start	End	E-Value	Type
Pfam:Tweety	1	72	4.7e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000050989

Predicted Effect

possibly damaging
Transcript: ENSMUST00000079415
AA Change: I136F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078384
Gene: ENSMUSG00000030428
AA Change: I136F

Domain	Start	End	E-Value	Type
Pfam:Tweety	26	428	3.2e-165	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000119661
AA Change: I136F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113937
Gene: ENSMUSG00000030428
AA Change: I136F

Domain	Start	End	E-Value	Type
Pfam:Tweety	26	435	1.9e-167	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126971

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129423
AA Change: I136F

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000120182
Gene: ENSMUSG00000030428
AA Change: I136F

Domain	Start	End	E-Value	Type
Pfam:Tweety	26	435	1.9e-167	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130150

Predicted Effect

possibly damaging
Transcript: ENSMUST00000206869
AA Change: I40F

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132400

Predicted Effect

probably benign
Transcript: ENSMUST00000206987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154825

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151959

Predicted Effect

probably benign
Transcript: ENSMUST00000153673

SMART Domains

Protein: ENSMUSP00000115623
Gene: ENSMUSG00000030428

Domain	Start	End	E-Value	Type
Pfam:Tweety	26	103	1.3e-23	PFAM

Meta Mutation Damage Score

0.6853

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

95% (94/99)

MGI Phenotype

FUNCTION: This gene encodes a member of the Tweety family of membrane proteins. Members of this family contain five predicted transmembrane regions that are arranged in a characteristic pattern. In mouse, the protein is predominantly localized to the endoplasmic reticulum and displays calcium binding activity. Targeted knock out of this gene results in early embryonic lethality prior to the blastocyst stage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a null mutation display embryonic lethality before implantation with arrest before the blastocyst stage and mitotic failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	T	8: 120,878,115 (GRCm39)	H190L	possibly damaging	Het
Adap1	A	G	5: 139,278,976 (GRCm39)		probably benign	Het
Adgra3	C	T	5: 50,121,182 (GRCm39)		probably benign	Het
Adgre5	A	T	8: 84,451,527 (GRCm39)	V527E	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Angptl6	C	A	9: 20,789,683 (GRCm39)	A70S	probably benign	Het
Ankdd1a	C	A	9: 65,417,610 (GRCm39)	K137N	probably null	Het
Ccdc170	T	C	10: 4,496,950 (GRCm39)		probably benign	Het
Ccdc51	A	G	9: 108,920,698 (GRCm39)	E195G	probably damaging	Het
Cdc37	A	T	9: 21,053,426 (GRCm39)	C204S	possibly damaging	Het
Cfap36	T	C	11: 29,172,431 (GRCm39)		probably benign	Het
Col6a2	C	A	10: 76,432,259 (GRCm39)	G965C	probably damaging	Het
Csn1s2a	G	A	5: 87,926,826 (GRCm39)	S53N	possibly damaging	Het
Dab2ip	T	C	2: 35,582,388 (GRCm39)		probably null	Het
Dhx58	A	G	11: 100,587,823 (GRCm39)	V578A	probably damaging	Het
Diaph1	G	T	18: 38,024,902 (GRCm39)	Q520K	unknown	Het
Eefsec	C	A	6: 88,274,631 (GRCm39)	K444N	probably benign	Het
Eftud2	A	T	11: 102,759,443 (GRCm39)	H153Q	possibly damaging	Het
Eif5b	T	G	1: 38,058,324 (GRCm39)	S209A	probably benign	Het
Exosc2	T	A	2: 31,562,497 (GRCm39)	Y46N	probably damaging	Het
F2	C	T	2: 91,456,075 (GRCm39)	G562D	probably damaging	Het
Fgf23	G	A	6: 127,057,128 (GRCm39)	G148D	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fstl5	G	A	3: 76,614,786 (GRCm39)	G179R	probably damaging	Het
Garre1	A	T	7: 33,938,644 (GRCm39)	W246R	probably damaging	Het
Gart	T	A	16: 91,422,282 (GRCm39)	Q745L	probably benign	Het
Gmeb1	T	A	4: 131,959,419 (GRCm39)	M212L	probably benign	Het
Gpaa1	T	C	15: 76,218,981 (GRCm39)	Y548H	probably damaging	Het
Gpatch1	T	C	7: 34,986,667 (GRCm39)	E763G	probably damaging	Het
Grm8	T	A	6: 27,762,389 (GRCm39)	I279F	probably damaging	Het
Hcls1	T	A	16: 36,771,536 (GRCm39)	H147Q	probably damaging	Het
Hpcal1	A	C	12: 17,836,389 (GRCm39)	D73A	probably damaging	Het
Il22ra1	T	C	4: 135,478,317 (GRCm39)	S463P	probably benign	Het
Itgbl1	G	A	14: 124,078,098 (GRCm39)		probably null	Het
Izumo3	G	T	4: 92,035,437 (GRCm39)		probably benign	Het
Kcna5	A	T	6: 126,510,346 (GRCm39)	L594Q	probably damaging	Het
Kif13a	A	T	13: 46,918,079 (GRCm39)	D409E	probably benign	Het
Kif9	A	T	9: 110,314,106 (GRCm39)	I39F	probably damaging	Het
Klri2	C	T	6: 129,709,171 (GRCm39)	R227H	possibly damaging	Het
Lamc3	G	A	2: 31,798,628 (GRCm39)	G445S	probably damaging	Het
Lctl	A	G	9: 64,024,980 (GRCm39)		probably benign	Het
Lrp4	T	C	2: 91,325,327 (GRCm39)	L1384P	probably damaging	Het
Mcm9	G	A	10: 53,439,526 (GRCm39)	S549L	possibly damaging	Het
Ms4a15	G	A	19: 10,956,697 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Nckap1l	A	T	15: 103,390,391 (GRCm39)	I721F	probably benign	Het
Nemp2	T	C	1: 52,684,588 (GRCm39)	V298A	probably benign	Het
Npc1l1	T	A	11: 6,178,148 (GRCm39)	K421*	probably null	Het
Npr1	C	T	3: 90,363,244 (GRCm39)	V879M	probably damaging	Het
Odad4	A	G	11: 100,454,394 (GRCm39)	E393G	probably damaging	Het
Or2ad1	A	G	13: 21,326,336 (GRCm39)	V297A	possibly damaging	Het
Or51q1c	A	G	7: 103,652,709 (GRCm39)	T82A	probably benign	Het
Osgin1	A	T	8: 120,169,219 (GRCm39)	I39F	possibly damaging	Het
Phip	G	C	9: 82,809,244 (GRCm39)		probably null	Het
Pkdrej	G	T	15: 85,705,768 (GRCm39)	P56Q	possibly damaging	Het
Plcxd2	A	G	16: 45,800,889 (GRCm39)	Y112H	probably damaging	Het
Plekha1	C	T	7: 130,499,176 (GRCm39)	T155M	probably damaging	Het
Prkdc	T	C	16: 15,558,196 (GRCm39)		probably null	Het
Prss1	A	G	6: 41,439,495 (GRCm39)	H76R	probably damaging	Het
Psg23	T	C	7: 18,348,558 (GRCm39)	D83G	probably benign	Het
Ptprd	T	A	4: 76,055,140 (GRCm39)	Q196L	probably benign	Het
Ranbp3l	A	T	15: 9,063,067 (GRCm39)	H292L	probably damaging	Het
Ranbp6	T	C	19: 29,787,097 (GRCm39)	E1085G	probably benign	Het
Rccd1	A	G	7: 79,970,326 (GRCm39)	V97A	possibly damaging	Het
Rchy1	T	C	5: 92,105,458 (GRCm39)	S48G	probably benign	Het
Rnmt	G	A	18: 68,446,771 (GRCm39)	M265I	probably benign	Het
Robo3	A	T	9: 37,336,640 (GRCm39)	M376K	probably benign	Het
Rrp12	T	C	19: 41,862,289 (GRCm39)	D898G	probably benign	Het
Scg3	A	T	9: 75,570,462 (GRCm39)		probably benign	Het
Sec31b	A	T	19: 44,522,821 (GRCm39)	M57K	probably damaging	Het
Slc17a6	A	C	7: 51,315,892 (GRCm39)	I387L	probably benign	Het
Speer4a1	T	A	5: 26,240,982 (GRCm39)	Q170L	possibly damaging	Het
Srsf9	A	G	5: 115,470,260 (GRCm39)	D146G	possibly damaging	Het
Ss18	A	G	18: 14,788,200 (GRCm39)	M90T	probably damaging	Het
Syna	A	T	5: 134,588,314 (GRCm39)	F212I	possibly damaging	Het
Tex54	A	G	19: 8,718,221 (GRCm39)		probably benign	Het
Thsd1	A	G	8: 22,733,055 (GRCm39)	H34R	probably damaging	Het
Tmem143	T	C	7: 45,547,086 (GRCm39)	I84T	probably benign	Het
Trim50	T	C	5: 135,395,487 (GRCm39)	V281A	probably damaging	Het
Trp53i11	C	A	2: 93,029,696 (GRCm39)		probably benign	Het
Ttll4	C	T	1: 74,718,851 (GRCm39)	T234I	possibly damaging	Het
Ube2f	T	C	1: 91,189,976 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,037,083 (GRCm39)	L227*	probably null	Het
Vmn1r222	A	C	13: 23,416,974 (GRCm39)	C80G	probably damaging	Het
Vps13b	G	T	15: 35,926,365 (GRCm39)	A3889S	probably benign	Het
Vps8	T	C	16: 21,323,136 (GRCm39)		probably benign	Het
Zbtb44	A	G	9: 30,978,006 (GRCm39)	Y422C	probably damaging	Het
Zfp180	A	G	7: 23,805,158 (GRCm39)	S526G	possibly damaging	Het
Zfp518a	A	C	19: 40,904,310 (GRCm39)	E1413A	probably damaging	Het
Zfp629	T	A	7: 127,210,858 (GRCm39)	Y317F	probably damaging	Het
Zfp804b	T	C	5: 6,820,534 (GRCm39)	E843G	probably benign	Het

Other mutations in Ttyh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Ttyh1	APN	7	4,127,656 (GRCm39)	missense	probably damaging	1.00
IGL01730:Ttyh1	APN	7	4,128,720 (GRCm39)	missense	possibly damaging	0.90
IGL02052:Ttyh1	APN	7	4,133,573 (GRCm39)	unclassified	probably benign
IGL02410:Ttyh1	APN	7	4,136,898 (GRCm39)	utr 3 prime	probably benign
IGL02651:Ttyh1	APN	7	4,127,678 (GRCm39)	missense	probably damaging	1.00
PIT4468001:Ttyh1	UTSW	7	4,122,771 (GRCm39)	missense	possibly damaging	0.49
R1699:Ttyh1	UTSW	7	4,122,695 (GRCm39)	missense	possibly damaging	0.79
R1739:Ttyh1	UTSW	7	4,132,348 (GRCm39)	missense	probably benign	0.18
R1865:Ttyh1	UTSW	7	4,122,730 (GRCm39)	missense	probably damaging	1.00
R2258:Ttyh1	UTSW	7	4,131,183 (GRCm39)	missense	probably damaging	0.98
R2259:Ttyh1	UTSW	7	4,131,183 (GRCm39)	missense	probably damaging	0.98
R2260:Ttyh1	UTSW	7	4,131,183 (GRCm39)	missense	probably damaging	0.98
R3027:Ttyh1	UTSW	7	4,122,721 (GRCm39)	missense	probably benign	0.31
R3426:Ttyh1	UTSW	7	4,136,218 (GRCm39)	critical splice donor site	probably null
R3939:Ttyh1	UTSW	7	4,132,317 (GRCm39)	missense	probably damaging	0.97
R3941:Ttyh1	UTSW	7	4,132,317 (GRCm39)	missense	probably damaging	0.97
R4328:Ttyh1	UTSW	7	4,133,580 (GRCm39)	missense	probably damaging	0.99
R4329:Ttyh1	UTSW	7	4,133,580 (GRCm39)	missense	probably damaging	0.99
R4527:Ttyh1	UTSW	7	4,122,763 (GRCm39)	missense	probably damaging	1.00
R4849:Ttyh1	UTSW	7	4,125,533 (GRCm39)	missense	possibly damaging	0.84
R4898:Ttyh1	UTSW	7	4,136,735 (GRCm39)	missense	probably benign	0.03
R4931:Ttyh1	UTSW	7	4,136,943 (GRCm39)	utr 3 prime	probably benign
R4960:Ttyh1	UTSW	7	4,131,225 (GRCm39)	missense	probably damaging	1.00
R6158:Ttyh1	UTSW	7	4,128,561 (GRCm39)	missense	probably benign	0.00
R6362:Ttyh1	UTSW	7	4,132,323 (GRCm39)	missense	possibly damaging	0.67
R6799:Ttyh1	UTSW	7	4,136,221 (GRCm39)	splice site	probably null
R6823:Ttyh1	UTSW	7	4,125,528 (GRCm39)	missense	probably damaging	0.97
R6897:Ttyh1	UTSW	7	4,127,649 (GRCm39)	utr 3 prime	probably benign
R7070:Ttyh1	UTSW	7	4,136,363 (GRCm39)	missense	probably damaging	0.99
R7236:Ttyh1	UTSW	7	4,136,663 (GRCm39)	missense	probably benign	0.00
R7287:Ttyh1	UTSW	7	4,128,657 (GRCm39)	missense	probably benign	0.02
R8039:Ttyh1	UTSW	7	4,125,540 (GRCm39)	missense	probably benign	0.01
R8056:Ttyh1	UTSW	7	4,127,622 (GRCm39)	intron	probably benign
R8236:Ttyh1	UTSW	7	4,128,547 (GRCm39)	missense	probably benign	0.02
R8684:Ttyh1	UTSW	7	4,133,791 (GRCm39)	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCCACGGAGGATGAACCAATAGG -3'
(R):5'- GCAGCTCTGCATTCGGGGATTAAG -3'

Sequencing Primer
(F):5'- TGAACCAATAGGGTGGATGC -3'
(R):5'- GATTAAGTTTTTGGTCTGAAATCTGC -3'

Posted On

2013-04-12