Mutagenetix > Incidental Mutation

Incidental Mutation 'R4960:Ttyh1'

382270

Institutional Source

Beutler Lab

Gene Symbol

Ttyh1

Ensembl Gene

ENSMUSG00000030428

Gene Name

tweety family member 1

Synonyms

6330408P11Rik, tty, 4930459B04Rik

MMRRC Submission

042557-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4960 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4119408-4136708 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4128226 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 232 (L232P)

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 damaging
Transcript: ENSMUST00000079415
AA Change: L232P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000078384
Gene: ENSMUSG00000030428
AA Change: L232P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000119661
AA Change: L232P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113937
Gene: ENSMUSG00000030428
AA Change: L232P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126971

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128317

Predicted Effect

probably damaging
Transcript: ENSMUST00000129423
AA Change: L232P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120182
Gene: ENSMUSG00000030428
AA Change: L232P

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: ENSMUST00000139789

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140637

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148318

Predicted Effect

probably damaging
Transcript: ENSMUST00000206869
AA Change: L136P

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148760

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148951

Predicted Effect

probably benign
Transcript: ENSMUST00000206987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205971

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

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428F04Rik	G	T	8: 105,283,211	R369S	probably damaging	Het
Abcc9	A	T	6: 142,620,783		probably null	Het
Adamts20	T	C	15: 94,379,774	H269R	probably benign	Het
Adamtsl1	C	T	4: 86,424,173	Q1642*	probably null	Het
Adamtsl3	A	C	7: 82,566,977	T863P	probably damaging	Het
Adcy3	G	T	12: 4,134,896	V191L	probably benign	Het
Akap9	G	T	5: 3,957,664	R244L	probably benign	Het
Als2cr12	T	A	1: 58,667,806	E234V	probably damaging	Het
Anapc1	C	T	2: 128,684,594	V95M	probably benign	Het
Arhgap17	G	T	7: 123,286,926		probably benign	Het
Arntl	T	A	7: 113,299,435		probably null	Het
Art2b	T	A	7: 101,580,230	Y154F	probably damaging	Het
Atrn	C	T	2: 130,995,047	R1144*	probably null	Het
Atxn3	T	C	12: 101,948,379	S29G	possibly damaging	Het
Batf3	C	T	1: 191,098,510	P18S	probably benign	Het
Bmpr1b	A	T	3: 141,870,785	C96S	probably damaging	Het
Bola1	A	G	3: 96,197,054	S75P	probably benign	Het
Btbd11	A	C	10: 85,651,662	N998T	probably benign	Het
Cela3a	G	A	4: 137,402,648	R221*	probably null	Het
Chat	A	G	14: 32,420,814	V406A	possibly damaging	Het
Chd1	T	A	17: 15,742,231	M750K	probably damaging	Het
Clip1	T	A	5: 123,654,003	K35*	probably null	Het
Cnr2	G	A	4: 135,917,607	G332D	probably benign	Het
Cnrip1	A	G	11: 17,052,228	D20G	probably damaging	Het
Col2a1	T	C	15: 97,976,149	Y1384C	unknown	Het
Col6a3	T	A	1: 90,804,218	I831F	probably damaging	Het
Cp	G	A	3: 19,973,797	V456I	probably damaging	Het
Cspp1	T	A	1: 10,126,463	N900K	probably damaging	Het
Ctbp2	T	C	7: 133,014,238	I323V	probably benign	Het
Ctnna2	C	T	6: 77,653,111	R120H	probably damaging	Het
Cyp2a12	A	G	7: 27,034,150	H318R	probably benign	Het
Cyp2c66	A	T	19: 39,163,322		probably null	Het
Cyp2j8	T	C	4: 96,507,377	T4A	probably benign	Het
Cyp4v3	A	G	8: 45,320,637	V165A	possibly damaging	Het
D5Ertd579e	G	A	5: 36,616,227	R275*	probably null	Het
Deup1	G	T	9: 15,600,968	Q160K	possibly damaging	Het
Dhx36	A	T	3: 62,496,859	I221K	probably damaging	Het
Dnah7b	T	A	1: 46,233,726	M2338K	probably benign	Het
Dync2li1	T	G	17: 84,633,541	L62V	probably benign	Het
Ephb3	A	G	16: 21,220,495	K367R	probably benign	Het
Etv3	A	G	3: 87,528,061	K80E	probably damaging	Het
Gdap1l1	T	C	2: 163,453,859	F346L	probably benign	Het
Gm12794	T	C	4: 101,941,464	Y211H	probably benign	Het
Gm4787	C	T	12: 81,379,316	V23M	probably damaging	Het
Greb1l	T	A	18: 10,547,306	I1508N	probably damaging	Het
Heatr5b	G	A	17: 78,831,584	T43I	probably benign	Het
Hephl1	T	C	9: 15,086,290	Y360C	probably damaging	Het
Itgam	A	C	7: 128,115,840	T865P	possibly damaging	Het
Kcnma1	T	C	14: 24,004,118		probably benign	Het
Kidins220	T	A	12: 24,992,260	C185*	probably null	Het
Klhl35	G	T	7: 99,469,068	G273V	probably damaging	Het
Lama5	A	G	2: 180,208,252		probably null	Het
Lamc3	A	G	2: 31,915,954	Q689R	probably benign	Het
Lnx2	C	T	5: 147,019,040	V649I	probably benign	Het
Lrrc43	A	G	5: 123,499,612	I281V	probably benign	Het
Ly6g6d	C	A	17: 35,071,754	A67S	probably benign	Het
Map1b	A	G	13: 99,432,212	S1334P	probably benign	Het
Marc2	T	A	1: 184,833,919	M186L	probably benign	Het
Mast1	T	A	8: 84,917,871	T810S	probably benign	Het
Mbnl1	A	G	3: 60,595,696	M1V	probably null	Het
Mc5r	T	G	18: 68,338,819	M83R	possibly damaging	Het
Mkln1	T	C	6: 31,459,006	F300S	probably damaging	Het
Mrgpre	A	T	7: 143,781,351	C138*	probably null	Het
Ncbp1	C	T	4: 46,165,273	Q529*	probably null	Het
Nrcam	A	G	12: 44,566,299	D591G	probably benign	Het
Nrxn3	A	T	12: 88,795,201	H6L	possibly damaging	Het
Nsmaf	T	A	4: 6,423,342	D342V	probably damaging	Het
Oip5	TGAGAAA	T	2: 119,617,861		probably benign	Het
Olfr1318	A	G	2: 112,156,352	T134A	probably benign	Het
Olfr202	A	G	16: 59,283,985	S171P	probably benign	Het
Olfr459	C	A	6: 41,772,069	V77F	probably damaging	Het
Olfr667	A	G	7: 104,916,708	I196T	probably benign	Het
Olfr794	A	C	10: 129,571,026	I124L	probably damaging	Het
Omt2a	T	A	9: 78,313,023	E31D	possibly damaging	Het
Phyhipl	A	G	10: 70,568,985	V131A	probably benign	Het
Pik3r5	A	G	11: 68,493,638	M619V	probably benign	Het
Ptprg	A	T	14: 12,237,837	E1431D	probably benign	Het
Rnf20	A	G	4: 49,638,029	T85A	probably damaging	Het
Rtn3	A	T	19: 7,456,521	I683K	probably damaging	Het
Rwdd3	A	G	3: 121,158,821	F174L	probably damaging	Het
Ryr1	T	C	7: 29,078,783	Q2096R	possibly damaging	Het
Scrn1	T	C	6: 54,534,422	D111G	probably damaging	Het
Sema3e	A	G	5: 14,252,632	R724G	possibly damaging	Het
She	A	G	3: 89,834,237	M232V	possibly damaging	Het
Slc25a54	A	T	3: 109,112,816	N382I	possibly damaging	Het
Slc26a2	T	C	18: 61,198,803	M519V	probably damaging	Het
Slc9a1	T	A	4: 133,370,656	L38H	probably damaging	Het
Slc9a3r1	A	G	11: 115,176,463	D180G	probably benign	Het
Snap47	A	T	11: 59,428,543	D256E	probably damaging	Het
Tacc3	A	G	5: 33,671,982	T610A	probably benign	Het
Tbc1d30	G	A	10: 121,267,216	T637M	probably benign	Het
Tbcd	T	A	11: 121,573,855	M572K	probably benign	Het
Thoc7	A	T	14: 13,953,460	D68E	probably benign	Het
Tmpo	G	A	10: 91,153,309	T250M	probably damaging	Het
Tmtc1	TGTCCGCCAGGCCCTTGCCCCAGAAGTC	TGTC	6: 148,443,947		probably benign	Het
Tnfaip1	A	T	11: 78,527,570	C224S	possibly damaging	Het
Tshz1	T	C	18: 84,014,862	T474A	probably benign	Het
Tspoap1	C	T	11: 87,766,396	Q345*	probably null	Het
Ttc21a	A	G	9: 119,945,001	E258G	possibly damaging	Het
Ttc37	T	A	13: 76,185,156	V1508E	possibly damaging	Het
Usp2	T	A	9: 44,075,813	L136Q	probably damaging	Het
Usp31	T	C	7: 121,648,645	S1192G	probably damaging	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
R6158:Ttyh1	UTSW	7	4125562	missense	probably benign	0.00
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'- TGAAACCATGTACCATGTCACCG -3'
(R):5'- GCACTTCCTCCATGGGTTTG -3'

Sequencing Primer
(F):5'- ATGTACCATGTCACCGGGCAG -3'
(R):5'- AACGCACGTGTGGCATGTC -3'

Posted On

2016-04-27