Mutagenetix > Incidental Mutation

Incidental Mutation 'R8056:Ttyh1'

643801

Institutional Source

Beutler Lab

Gene Symbol

Ttyh1

Ensembl Gene

ENSMUSG00000030428

Gene Name

tweety family member 1

Synonyms

tty, 4930459B04Rik, 6330408P11Rik

MMRRC Submission

067493-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8056 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4122418-4139206 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 4127622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115623 (fasta)

Gene Model

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

AlphaFold

Q9D3A9

Predicted Effect

unknown
Transcript: ENSMUST00000032594
AA Change: P56L

SMART Domains

Protein: ENSMUSP00000032594
Gene: ENSMUSG00000030428
AA Change: P56L

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

Predicted Effect

silent
Transcript: ENSMUST00000079415

SMART Domains

Protein: ENSMUSP00000078384
Gene: ENSMUSG00000030428

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

Predicted Effect

silent
Transcript: ENSMUST00000119661

SMART Domains

Protein: ENSMUSP00000113937
Gene: ENSMUSG00000030428

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

Predicted Effect

silent
Transcript: ENSMUST00000129423

SMART Domains

Protein: ENSMUSP00000120182
Gene: ENSMUSG00000030428

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

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

Predicted Effect

silent
Transcript: ENSMUST00000206869

Predicted Effect

unknown
Transcript: ENSMUST00000206987
AA Change: R101W

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (75/75)

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik2	T	C	11: 48,910,909 (GRCm39)	E508G	probably benign	Het
Acsl3	C	T	1: 78,659,611 (GRCm39)	L88F	probably damaging	Het
Adamtsl1	C	T	4: 86,260,269 (GRCm39)	P835S	possibly damaging	Het
Agrn	A	G	4: 156,254,868 (GRCm39)	V1616A	probably benign	Het
Bmerb1	T	A	16: 13,856,180 (GRCm39)		probably benign	Het
Brca2	T	C	5: 150,492,771 (GRCm39)	V3262A	possibly damaging	Het
Bsn	T	C	9: 107,982,506 (GRCm39)	D977G		Het
Cic	G	T	7: 24,990,366 (GRCm39)	A1956S	possibly damaging	Het
Clip4	C	A	17: 72,110,587 (GRCm39)	T189K	probably damaging	Het
Col12a1	T	C	9: 79,507,220 (GRCm39)	E279G		Het
Col24a1	A	C	3: 145,019,925 (GRCm39)	I99L	possibly damaging	Het
Cpne3	A	G	4: 19,532,426 (GRCm39)	V329A	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,030 (GRCm39)	I204V	possibly damaging	Het
Cyp2c66	A	G	19: 39,130,485 (GRCm39)	I107V	probably benign	Het
Dennd4c	A	G	4: 86,763,213 (GRCm39)	R1840G	probably null	Het
Dhx36	A	T	3: 62,396,012 (GRCm39)	L465Q	possibly damaging	Het
Edc4	A	G	8: 106,617,116 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,799,896 (GRCm39)	T2931A	probably damaging	Het
Fam133b	A	T	5: 3,615,744 (GRCm39)	R215S	unknown	Het
Fbh1	G	A	2: 11,748,441 (GRCm39)	T985I	probably benign	Het
Fras1	A	G	5: 96,892,633 (GRCm39)	D2911G	probably damaging	Het
Gm13889	A	T	2: 93,787,020 (GRCm39)	D151E	probably damaging	Het
Gosr2	C	A	11: 103,588,530 (GRCm39)		probably benign	Het
Igkv8-26	T	A	6: 70,170,706 (GRCm39)	L99H	probably damaging	Het
Inhca	A	G	9: 103,143,423 (GRCm39)	C438R	probably damaging	Het
Kif16b	A	G	2: 142,554,762 (GRCm39)	F679L	probably damaging	Het
Kif1a	G	C	1: 92,982,423 (GRCm39)		probably benign	Het
Kif3b	G	C	2: 153,171,979 (GRCm39)	R716S	possibly damaging	Het
Lilra6	A	T	7: 3,915,551 (GRCm39)	C395S	probably damaging	Het
Lrp5	A	G	19: 3,647,337 (GRCm39)	F1302L	probably damaging	Het
Map2	T	G	1: 66,454,779 (GRCm39)	V1223G	probably damaging	Het
Mical1	T	A	10: 41,357,168 (GRCm39)	N324K	probably damaging	Het
Morc3	T	A	16: 93,642,064 (GRCm39)	H94Q	probably benign	Het
Mpped1	T	C	15: 83,720,663 (GRCm39)	V199A	possibly damaging	Het
Msx1	G	A	5: 37,981,544 (GRCm39)	T45I	probably benign	Het
Myh7	G	A	14: 55,210,776 (GRCm39)	Q1714*	probably null	Het
Narf	T	C	11: 121,136,170 (GRCm39)	V182A	possibly damaging	Het
Ncapd2	G	A	6: 125,148,006 (GRCm39)	T1107M	probably damaging	Het
Nek3	A	G	8: 22,619,359 (GRCm39)		probably null	Het
Neurog1	G	T	13: 56,399,223 (GRCm39)	P175T	probably damaging	Het
Nlrp9c	T	C	7: 26,085,112 (GRCm39)	T156A	probably damaging	Het
Or1ad1	T	A	11: 50,876,368 (GRCm39)	V280E	probably damaging	Het
Or2a20	A	T	6: 43,193,978 (GRCm39)	I44F	probably damaging	Het
Or6c3	G	A	10: 129,309,061 (GRCm39)	A167T	probably benign	Het
Orm3	A	G	4: 63,277,594 (GRCm39)	E194G	probably benign	Het
Pga5	A	C	19: 10,654,161 (GRCm39)		probably benign	Het
Pik3r2	G	T	8: 71,225,011 (GRCm39)	P151T	probably benign	Het
Pkp2	T	C	16: 16,031,264 (GRCm39)	C10R	probably benign	Het
Plxdc1	T	A	11: 97,869,343 (GRCm39)	R82W	probably damaging	Het
Polr2c	G	A	8: 95,586,895 (GRCm39)	A54T	probably benign	Het
Rab31	T	C	17: 66,024,503 (GRCm39)	I59V	probably benign	Het
Rasgrf2	T	C	13: 92,167,321 (GRCm39)	M251V	probably damaging	Het
Rcc2	G	A	4: 140,429,586 (GRCm39)	C40Y	probably benign	Het
Rfc1	A	C	5: 65,451,436 (GRCm39)		probably benign	Het
Rhag	T	C	17: 41,139,679 (GRCm39)	I137T	probably damaging	Het
Rnf216	T	C	5: 142,978,616 (GRCm39)	M841V	probably benign	Het
Scaf11	C	A	15: 96,312,698 (GRCm39)	E1448*	probably null	Het
Septin11	T	C	5: 93,315,435 (GRCm39)	L388P	unknown	Het
Serpina1b	A	T	12: 103,784,137 (GRCm39)		probably benign	Het
Skint10	A	G	4: 112,573,010 (GRCm39)	I262T	probably benign	Het
Slc13a4	C	T	6: 35,245,887 (GRCm39)	G586E	probably damaging	Het
Slc8a1	C	T	17: 81,955,352 (GRCm39)	G562E	probably damaging	Het
Slc8b1	T	A	5: 120,658,682 (GRCm39)	L126Q	probably damaging	Het
Smg1	A	G	7: 117,759,589 (GRCm39)	Y2086H	unknown	Het
Spmip10	A	G	18: 56,727,763 (GRCm39)	N79S		Het
Taf1c	A	T	8: 120,330,202 (GRCm39)	D47E	probably benign	Het
Tbx5	A	C	5: 119,991,678 (GRCm39)	M250L	probably benign	Het
Tekt3	T	C	11: 62,974,785 (GRCm39)		probably null	Het
Topors	T	C	4: 40,262,221 (GRCm39)	I354M	probably benign	Het
Ttn	C	A	2: 76,778,574 (GRCm39)	G1309V	unknown	Het
Ubac1	A	G	2: 25,897,909 (GRCm39)	I237T	probably benign	Het
Vmn1r197	T	A	13: 22,512,388 (GRCm39)	V103D	probably damaging	Het
Zfp184	T	C	13: 22,143,008 (GRCm39)	F238S	probably damaging	Het
Zfp445	A	G	9: 122,681,032 (GRCm39)	F970L	possibly damaging	Het
Zfp90	A	T	8: 107,151,112 (GRCm39)	E275V	probably damaging	Het
Zscan12	C	G	13: 21,553,492 (GRCm39)	Q439E	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
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
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'- ACAATGACGTCTCTCCAGCAG -3'
(R):5'- TCCCATATGAAGACCAACTGG -3'

Sequencing Primer
(F):5'- AGGTCTTCAGGTTACCTTGGCAAC -3'
(R):5'- ACCAACTGGGGCATGAGTCTG -3'

Posted On

2020-08-19