Mutagenetix > Incidental Mutation

Incidental Mutation 'R6158:Ttyh1'

489702

Institutional Source

Beutler Lab

Gene Symbol

Ttyh1

Ensembl Gene

ENSMUSG00000030428

Gene Name

tweety family member 1

Synonyms

6330408P11Rik, tty, 4930459B04Rik

MMRRC Submission

044305-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6158 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4119408-4136708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 4125562 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 153 (T153A)

Ref Sequence

ENSEMBL: ENSMUSP00000120182 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000079415
AA Change: T153A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000078384
Gene: ENSMUSG00000030428
AA Change: T153A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119661
AA Change: T153A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000113937
Gene: ENSMUSG00000030428
AA Change: T153A

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: T153A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000120182
Gene: ENSMUSG00000030428
AA Change: T153A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132400

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134536

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148318

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151959

Predicted Effect

probably benign
Transcript: ENSMUST00000206869
AA Change: T57A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000206987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154825

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

0.1839

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.5%
20x: 92.6%

Validation Efficiency

98% (65/66)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,170,636	V793A	possibly damaging	Het
2900092C05Rik	A	G	7: 12,512,672	T32A	probably benign	Het
Adprhl1	C	T	8: 13,224,977	V594M	possibly damaging	Het
Ano3	A	T	2: 110,665,875	Y845N	probably damaging	Het
Arhgap24	A	T	5: 102,892,912	I575L	probably benign	Het
Aurka	A	C	2: 172,363,596		probably null	Het
C1qtnf5	A	T	9: 44,108,970		probably benign	Het
Cacnb2	A	G	2: 14,985,601	D454G	possibly damaging	Het
Ccdc58	T	A	16: 36,089,929	V118D	probably damaging	Het
Chchd5	T	C	2: 129,130,517	L87P	probably damaging	Het
Col7a1	G	T	9: 108,964,603	R1377L	unknown	Het
Cpne8	A	C	15: 90,571,988	S191A	probably damaging	Het
Dhx30	A	T	9: 110,087,030	I671N	probably damaging	Het
Dnah12	A	T	14: 26,773,685	K1423N	possibly damaging	Het
Dnm3	T	C	1: 162,320,987	M272V	probably damaging	Het
Fat4	A	T	3: 38,983,262	S3688C	possibly damaging	Het
Frmpd1	A	T	4: 45,285,401	L1407F	probably damaging	Het
Fry	T	C	5: 150,454,572	S410P	probably damaging	Het
Gm11565	T	A	11: 99,914,918	C45*	probably null	Het
Gngt1	A	T	6: 3,994,311	R30*	probably null	Het
Htt	T	C	5: 34,907,086	I2943T	possibly damaging	Het
Kl	T	A	5: 150,988,853	M689K	possibly damaging	Het
Lmo7	T	A	14: 101,900,137	D247E	probably benign	Het
Mastl	G	T	2: 23,132,772	N646K	possibly damaging	Het
Mei4	G	T	9: 81,927,576	L237F	probably damaging	Het
Mettl27	C	T	5: 134,940,576	P170S	possibly damaging	Het
Mgam	T	A	6: 40,757,714	I896K	probably damaging	Het
Moxd1	T	A	10: 24,284,777	C443S	probably damaging	Het
Myo18b	A	T	5: 112,874,172	N451K	probably benign	Het
Myo7b	T	C	18: 31,988,549	I768V	probably benign	Het
Nos1	A	C	5: 117,867,574	I120L	probably benign	Het
Nsd1	T	C	13: 55,245,621	V345A	probably benign	Het
Olfr1095	A	G	2: 86,851,515	L61P	possibly damaging	Het
Olfr1205	T	C	2: 88,831,146	F10L	probably damaging	Het
Olfr150	C	T	9: 39,737,076	T87I	probably benign	Het
Olfr170	C	A	16: 19,605,925	V248F	probably damaging	Het
Olfr344	A	T	2: 36,569,116	T173S	probably benign	Het
Pdzph1	T	G	17: 58,973,627	Q553H	probably damaging	Het
Piwil1	T	A	5: 128,747,876	L546*	probably null	Het
Pla2g4f	T	C	2: 120,301,071	T724A	probably benign	Het
Ralgapa2	A	T	2: 146,424,676	M660K	possibly damaging	Het
Rgsl1	T	C	1: 153,804,021	D103G	possibly damaging	Het
Rnf186	A	G	4: 138,967,254	D35G	probably damaging	Het
Rock2	A	G	12: 16,954,918	D424G	probably benign	Het
Scg2	A	T	1: 79,435,400	D495E	probably damaging	Het
Slc39a2	G	A	14: 51,894,224		probably null	Het
Snrnp48	T	A	13: 38,210,236	Y100*	probably null	Het
Spaca1	A	G	4: 34,029,176	M99T	probably damaging	Het
Specc1	T	G	11: 62,118,124	F235L	probably damaging	Het
St13	A	T	15: 81,399,601		probably null	Het
Swap70	T	A	7: 110,270,023	M341K	probably damaging	Het
Synj2	A	G	17: 5,986,212	D67G	probably benign	Het
Tmem135	T	A	7: 89,156,444	I251F	probably benign	Het
Tmem87a	A	T	2: 120,360,103		probably null	Het
Tom1l2	C	T	11: 60,232,927	D128N	probably damaging	Het
Tpx2	C	A	2: 152,873,104	H82N	probably benign	Het
Trip12	A	T	1: 84,761,012	C738S	possibly damaging	Het
Utrn	C	T	10: 12,690,822	G1199S	probably benign	Het
Vmn1r8	T	A	6: 57,036,289	N108K	probably benign	Het
Vmn2r63	T	A	7: 42,933,680	D37V	probably damaging	Het
Vwce	C	T	19: 10,644,221	R206C	possibly damaging	Het
Wrn	G	T	8: 33,319,172	F265L	probably damaging	Het
Zfp472	T	A	17: 32,978,389	C479*	probably null	Het
Zfp831	A	T	2: 174,643,858	T109S	possibly damaging	Het
Znfx1	G	T	2: 167,056,726	Q93K	probably benign	Het

Other mutations in Ttyh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01410:Ttyh1	APN	7	4124657	missense	probably damaging	1.00
IGL01730:Ttyh1	APN	7	4125721	missense	possibly damaging	0.90
IGL02052:Ttyh1	APN	7	4130574	unclassified	probably benign
IGL02410:Ttyh1	APN	7	4133899	utr 3 prime	probably benign
IGL02651:Ttyh1	APN	7	4124679	missense	probably damaging	1.00
PIT4468001:Ttyh1	UTSW	7	4119772	missense	possibly damaging	0.49
R0137:Ttyh1	UTSW	7	4124720	missense	possibly damaging	0.95
R1699:Ttyh1	UTSW	7	4119696	missense	possibly damaging	0.79
R1739:Ttyh1	UTSW	7	4129349	missense	probably benign	0.18
R1865:Ttyh1	UTSW	7	4119731	missense	probably damaging	1.00
R2258:Ttyh1	UTSW	7	4128184	missense	probably damaging	0.98
R2259:Ttyh1	UTSW	7	4128184	missense	probably damaging	0.98
R2260:Ttyh1	UTSW	7	4128184	missense	probably damaging	0.98
R3027:Ttyh1	UTSW	7	4119722	missense	probably benign	0.31
R3426:Ttyh1	UTSW	7	4133219	critical splice donor site	probably null
R3939:Ttyh1	UTSW	7	4129318	missense	probably damaging	0.97
R3941:Ttyh1	UTSW	7	4129318	missense	probably damaging	0.97
R4328:Ttyh1	UTSW	7	4130581	missense	probably damaging	0.99
R4329:Ttyh1	UTSW	7	4130581	missense	probably damaging	0.99
R4527:Ttyh1	UTSW	7	4119764	missense	probably damaging	1.00
R4849:Ttyh1	UTSW	7	4122534	missense	possibly damaging	0.84
R4898:Ttyh1	UTSW	7	4133736	missense	probably benign	0.03
R4931:Ttyh1	UTSW	7	4133944	utr 3 prime	probably benign
R4960:Ttyh1	UTSW	7	4128226	missense	probably damaging	1.00
R6362:Ttyh1	UTSW	7	4129324	missense	possibly damaging	0.67
R6799:Ttyh1	UTSW	7	4133222	splice site	probably null
R6823:Ttyh1	UTSW	7	4122529	missense	probably damaging	0.97
R6897:Ttyh1	UTSW	7	4124650	utr 3 prime	probably benign
R7070:Ttyh1	UTSW	7	4133364	missense	probably damaging	0.99
R7236:Ttyh1	UTSW	7	4133664	missense	probably benign	0.00
R7287:Ttyh1	UTSW	7	4125658	missense	probably benign	0.02
R8039:Ttyh1	UTSW	7	4122541	missense	probably benign	0.01
R8056:Ttyh1	UTSW	7	4124623	intron	probably benign
R8236:Ttyh1	UTSW	7	4125548	missense	probably benign	0.02
R8684:Ttyh1	UTSW	7	4130792	splice site	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAGCTCCTGACAAGATCTGG -3'
(R):5'- CCTGTACTCCTCCACGAAAG -3'

Sequencing Primer
(F):5'- GGTCTCCTCAGTCTCCAGAAG -3'
(R):5'- AGTCACATCTTCAGCCACCTG -3'

Posted On

2017-10-10