Mutagenetix > Incidental Mutation

Incidental Mutation 'R3027:Ttyh1'

265849

Institutional Source

Beutler Lab

Gene Symbol

Ttyh1

Ensembl Gene

ENSMUSG00000030428

Gene Name

tweety family member 1

Synonyms

tty, 4930459B04Rik, 6330408P11Rik

MMRRC Submission

040543-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3027 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

4122418-4139206 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4122721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 23 (D23G)

Ref Sequence

ENSEMBL: ENSMUSP00000146170 (fasta)

Gene Model

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

AlphaFold

Q9D3A9

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000079415
AA Change: D23G

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000078384
Gene: ENSMUSG00000030428
AA Change: D23G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119661
AA Change: D23G

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113937
Gene: ENSMUSG00000030428
AA Change: D23G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126971

Predicted Effect

probably benign
Transcript: ENSMUST00000129423
AA Change: D23G

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000120182
Gene: ENSMUSG00000030428
AA Change: D23G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130150

Predicted Effect

probably benign
Transcript: ENSMUST00000153673
AA Change: D23G

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000115623
Gene: ENSMUSG00000030428
AA Change: D23G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154825

Predicted Effect

probably benign
Transcript: ENSMUST00000206987
AA Change: D23G

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151959

Predicted Effect

probably benign
Transcript: ENSMUST00000206869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132560

Meta Mutation Damage Score

0.1151

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

100% (33/33)

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,827,240 (GRCm39)	T993A	probably damaging	Het
Arhgap18	G	A	10: 26,722,092 (GRCm39)	G21D	probably benign	Het
Cluap1	T	A	16: 3,729,396 (GRCm39)	C84*	probably null	Het
Dnmt3a	T	A	12: 3,899,626 (GRCm39)		probably null	Het
Etaa1	T	C	11: 17,897,886 (GRCm39)	D146G	probably damaging	Het
Fam227a	T	C	15: 79,532,934 (GRCm39)		probably null	Het
Htt	T	A	5: 34,977,439 (GRCm39)	I775N	possibly damaging	Het
Itgax	C	A	7: 127,747,744 (GRCm39)	Y1053*	probably null	Het
Kif21a	T	A	15: 90,856,845 (GRCm39)	N583Y	probably damaging	Het
Lrp1b	T	A	2: 40,760,283 (GRCm39)	E2995V	probably benign	Het
Or1ad8	G	A	11: 50,897,879 (GRCm39)	V27M	possibly damaging	Het
Or5h22	C	T	16: 58,895,330 (GRCm39)	V38I	probably benign	Het
Or6aa1	T	C	7: 86,043,761 (GRCm39)	N315S	probably benign	Het
Or8k39	C	T	2: 86,563,930 (GRCm39)	V9M	possibly damaging	Het
Otos	A	T	1: 92,572,076 (GRCm39)	H83Q	probably damaging	Het
Pramel7	A	G	2: 87,321,747 (GRCm39)	M96T	probably benign	Het
Ptprz1	T	A	6: 23,016,196 (GRCm39)	S1680T	possibly damaging	Het
Rad50	A	G	11: 53,586,208 (GRCm39)	S263P	probably benign	Het
Resf1	T	C	6: 149,230,533 (GRCm39)	L1193P	probably benign	Het
Retreg2	A	G	1: 75,123,088 (GRCm39)	S339G	probably damaging	Het
Schip1	G	A	3: 68,401,943 (GRCm39)	A7T	probably damaging	Het
Shkbp1	A	C	7: 27,042,818 (GRCm39)	S540A	probably benign	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Socs1	T	C	16: 10,602,578 (GRCm39)	D53G	possibly damaging	Het
Spag9	G	T	11: 93,977,203 (GRCm39)	R103L	probably null	Het
Spc24	AGAGGTAGTCACTGA	AGA	9: 21,667,511 (GRCm39)		probably null	Het
Spo11	T	C	2: 172,827,736 (GRCm39)	Y146H	probably damaging	Het
Tmem25	T	C	9: 44,709,511 (GRCm39)		probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zfp513	A	G	5: 31,356,673 (GRCm39)	S540P	possibly damaging	Het
Zfp808	A	T	13: 62,319,404 (GRCm39)	H211L	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
R0137:Ttyh1	UTSW	7	4,127,719 (GRCm39)	missense	possibly damaging	0.95
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
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'- GAGCAAAGACCCTTCACCTG -3'
(R):5'- GCGCTATACCTCTGATCTTGG -3'

Sequencing Primer
(F):5'- ACTGCTCACGCCGCATTG -3'
(R):5'- TGGACTTGTACTCACAAATGCAGG -3'

Posted On

2015-02-05