Incidental Mutation 'R7287:Ttyh1'
ID 566089
Institutional Source Beutler Lab
Gene Symbol Ttyh1
Ensembl Gene ENSMUSG00000030428
Gene Name tweety family member 1
Synonyms tty, 4930459B04Rik, 6330408P11Rik
MMRRC Submission 045321-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7287 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 4122418-4139206 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4128657 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 185 (Y185H)
Ref Sequence ENSEMBL: ENSMUSP00000078384 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032594] [ENSMUST00000079415] [ENSMUST00000119661] [ENSMUST00000129423] [ENSMUST00000153673] [ENSMUST00000206869] [ENSMUST00000206987]
AlphaFold Q9D3A9
Predicted Effect probably benign
Transcript: ENSMUST00000032594
SMART Domains Protein: ENSMUSP00000032594
Gene: ENSMUSG00000030428

DomainStartEndE-ValueType
Pfam:Tweety 1 72 4.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000079415
AA Change: Y185H

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000078384
Gene: ENSMUSG00000030428
AA Change: Y185H

DomainStartEndE-ValueType
Pfam:Tweety 26 428 3.2e-165 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119661
AA Change: Y185H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000113937
Gene: ENSMUSG00000030428
AA Change: Y185H

DomainStartEndE-ValueType
Pfam:Tweety 26 435 1.9e-167 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129423
AA Change: Y185H

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000120182
Gene: ENSMUSG00000030428
AA Change: Y185H

DomainStartEndE-ValueType
Pfam:Tweety 26 435 1.9e-167 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000153673
SMART Domains Protein: ENSMUSP00000115623
Gene: ENSMUSG00000030428

DomainStartEndE-ValueType
Pfam:Tweety 26 103 1.3e-23 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206869
AA Change: Y89H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000206987
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (71/71)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 A G 17: 24,604,861 (GRCm39) D656G possibly damaging Het
Abcc3 C T 11: 94,247,873 (GRCm39) A1207T probably benign Het
Abcc8 T C 7: 45,762,534 (GRCm39) H1209R probably damaging Het
Adam26a T C 8: 44,023,380 (GRCm39) T37A possibly damaging Het
Adamts9 C T 6: 92,866,984 (GRCm39) R685Q possibly damaging Het
Anapc7 T A 5: 122,571,499 (GRCm39) N191K probably benign Het
Ankrd26 C T 6: 118,526,598 (GRCm39) probably null Het
Ap5z1 T C 5: 142,459,802 (GRCm39) L484P probably damaging Het
Arhgap32 A G 9: 32,063,993 (GRCm39) D77G Het
Atp10a T A 7: 58,477,017 (GRCm39) D1213E probably damaging Het
B3gnt8 T C 7: 25,328,395 (GRCm39) L275P probably damaging Het
Bltp2 G A 11: 78,163,709 (GRCm39) R1059H possibly damaging Het
Cab39 A G 1: 85,746,182 (GRCm39) E21G probably benign Het
Capn15 G T 17: 26,179,429 (GRCm39) S948R probably damaging Het
Cbarp T C 10: 79,973,154 (GRCm39) T15A unknown Het
Ccdc81 C T 7: 89,542,331 (GRCm39) A182T probably damaging Het
Ccpg1 A G 9: 72,922,688 (GRCm39) H766R probably benign Het
Cfl1 T C 19: 5,542,562 (GRCm39) V14A probably benign Het
Chd6 A G 2: 160,850,312 (GRCm39) I875T probably benign Het
Cidec T A 6: 113,405,359 (GRCm39) E121D probably benign Het
Clpx C A 9: 65,207,295 (GRCm39) Y64* probably null Het
Cntn1 T A 15: 92,143,833 (GRCm39) probably null Het
Cyp24a1 A G 2: 170,327,826 (GRCm39) L472P probably damaging Het
Dcdc2c G T 12: 28,566,685 (GRCm39) D159E probably benign Het
Emp1 T C 6: 135,357,167 (GRCm39) F82L probably benign Het
Fem1b T C 9: 62,703,404 (GRCm39) T619A probably benign Het
Fgf15 A T 7: 144,450,531 (GRCm39) D39V probably benign Het
Galnt12 T G 4: 47,108,525 (GRCm39) F221V probably damaging Het
Herc6 A G 6: 57,628,965 (GRCm39) probably null Het
Hspg2 G A 4: 137,256,867 (GRCm39) V1537I probably benign Het
Ido2 T C 8: 25,025,154 (GRCm39) probably null Het
Insr G A 8: 3,219,717 (GRCm39) T935I probably benign Het
Itgax G A 7: 127,747,677 (GRCm39) C1031Y probably damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Kmt5b T C 19: 3,854,501 (GRCm39) Y255H possibly damaging Het
Lrriq1 A T 10: 103,051,877 (GRCm39) Y292N probably benign Het
Mrpl37 A G 4: 106,917,717 (GRCm39) F318S probably damaging Het
Nav2 A G 7: 49,070,076 (GRCm39) N311D probably benign Het
Nbeal1 G C 1: 60,276,310 (GRCm39) V684L probably benign Het
Nlrp9b T C 7: 19,762,381 (GRCm39) C673R probably damaging Het
Npnt A G 3: 132,612,563 (GRCm39) V74A probably benign Het
Or10ak12 T A 4: 118,666,939 (GRCm39) T41S probably benign Het
Or1e19 T A 11: 73,316,669 (GRCm39) I47F probably benign Het
Plce1 A T 19: 38,690,347 (GRCm39) Q677L probably benign Het
Pmel C T 10: 128,551,095 (GRCm39) Q113* probably null Het
Pom121l2 T A 13: 22,168,502 (GRCm39) F924L probably benign Het
Poteg G A 8: 27,943,372 (GRCm39) R214K probably null Het
Pprc1 G T 19: 46,059,793 (GRCm39) S1480I unknown Het
Secisbp2l A G 2: 125,582,289 (GRCm39) S1056P probably benign Het
Selenoo T C 15: 88,982,903 (GRCm39) F477L probably benign Het
Senp2 A G 16: 21,837,114 (GRCm39) D121G probably damaging Het
Slc25a11 T C 11: 70,536,181 (GRCm39) D211G probably benign Het
Slc44a2 A G 9: 21,253,752 (GRCm39) D131G probably benign Het
Tcf25 G A 8: 124,100,711 (GRCm39) A34T possibly damaging Het
Tm9sf3 A G 19: 41,205,818 (GRCm39) Y530H probably damaging Het
Tmco3 G A 8: 13,369,605 (GRCm39) probably null Het
Tmem132d G T 5: 128,061,415 (GRCm39) Q396K probably damaging Het
Tmem154 A G 3: 84,597,870 (GRCm39) T136A possibly damaging Het
Tnrc6b A G 15: 80,763,742 (GRCm39) T415A possibly damaging Het
Tonsl T C 15: 76,517,925 (GRCm39) probably null Het
Ufl1 T A 4: 25,254,852 (GRCm39) T535S probably benign Het
Vmn1r15 T C 6: 57,235,201 (GRCm39) L23P possibly damaging Het
Vmn2r25 T A 6: 123,829,040 (GRCm39) H78L possibly damaging Het
Vmn2r68 T C 7: 84,871,460 (GRCm39) T608A probably benign Het
Vwf A G 6: 125,614,430 (GRCm39) I1104V Het
Zbtb2 C T 10: 4,318,986 (GRCm39) D347N possibly damaging Het
Zfyve9 A T 4: 108,575,453 (GRCm39) S543T probably benign Het
Zhx1 T C 15: 57,916,692 (GRCm39) N518S probably damaging Het
Zmym6 T C 4: 127,016,775 (GRCm39) V852A possibly damaging Het
Other mutations in Ttyh1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- AACCCTAGGCTTCCGGTAAC -3'
(R):5'- CAACTACTTGGTCATTGCTGAG -3'

Sequencing Primer
(F):5'- TAGGCTTCCGGTAACCACCAC -3'
(R):5'- CCTTGCTTTACAATCACAGAGGGG -3'
Posted On 2019-06-26