Incidental Mutation 'R3426:Ttyh1'
ID 267878
Institutional Source Beutler Lab
Gene Symbol Ttyh1
Ensembl Gene ENSMUSG00000030428
Gene Name tweety family member 1
Synonyms tty, 4930459B04Rik, 6330408P11Rik
MMRRC Submission 040644-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3426 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 4122418-4139206 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 4136218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146131 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032594] [ENSMUST00000037472] [ENSMUST00000079415] [ENSMUST00000117274] [ENSMUST00000119661] [ENSMUST00000121270] [ENSMUST00000129423] [ENSMUST00000132086] [ENSMUST00000144248] [ENSMUST00000128756] [ENSMUST00000206869] [ENSMUST00000206869] [ENSMUST00000153673] [ENSMUST00000154571]
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: ENSMUST00000037472
SMART Domains Protein: ENSMUSP00000046465
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 118 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
low complexity region 383 396 N/A INTRINSIC
low complexity region 413 447 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
Pfam:SAC3_GANP 567 762 8.2e-66 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000079415
SMART Domains Protein: ENSMUSP00000078384
Gene: ENSMUSG00000030428

DomainStartEndE-ValueType
Pfam:Tweety 26 428 3.2e-165 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117274
SMART Domains Protein: ENSMUSP00000113223
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 104 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000119661
SMART Domains Protein: ENSMUSP00000113937
Gene: ENSMUSG00000030428

DomainStartEndE-ValueType
Pfam:Tweety 26 435 1.9e-167 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000121270
SMART Domains Protein: ENSMUSP00000112428
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 118 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
low complexity region 383 396 N/A INTRINSIC
low complexity region 413 447 N/A INTRINSIC
low complexity region 453 468 N/A INTRINSIC
Pfam:SAC3_GANP 567 764 7.4e-67 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000129423
SMART Domains Protein: ENSMUSP00000120182
Gene: ENSMUSG00000030428

DomainStartEndE-ValueType
Pfam:Tweety 26 435 1.9e-167 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140637
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134536
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148318
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128317
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132400
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139789
Predicted Effect probably benign
Transcript: ENSMUST00000132086
SMART Domains Protein: ENSMUSP00000121129
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 29 51 N/A INTRINSIC
low complexity region 63 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000144248
SMART Domains Protein: ENSMUSP00000120574
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 104 N/A INTRINSIC
low complexity region 119 137 N/A INTRINSIC
low complexity region 346 359 N/A INTRINSIC
low complexity region 376 410 N/A INTRINSIC
low complexity region 416 431 N/A INTRINSIC
Pfam:SAC3_GANP 530 725 1e-65 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128756
SMART Domains Protein: ENSMUSP00000118832
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 118 N/A INTRINSIC
low complexity region 156 174 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000206869
Predicted Effect probably null
Transcript: ENSMUST00000206869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205971
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148951
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: ENSMUST00000154571
SMART Domains Protein: ENSMUSP00000123328
Gene: ENSMUSG00000035545

DomainStartEndE-ValueType
low complexity region 47 69 N/A INTRINSIC
low complexity region 73 118 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 C A 8: 25,157,620 (GRCm39) C110F probably damaging Het
Adrb3 T C 8: 27,718,209 (GRCm39) D80G probably damaging Het
Akap6 A T 12: 52,934,817 (GRCm39) N770Y probably damaging Het
Ank3 A G 10: 69,542,724 (GRCm39) H28R probably benign Het
Atrn A G 2: 130,862,876 (GRCm39) M1319V probably benign Het
BC034090 T C 1: 155,117,244 (GRCm39) I291M probably benign Het
Cc2d2a T C 5: 43,893,451 (GRCm39) S1416P probably benign Het
Chd6 G T 2: 160,832,175 (GRCm39) T999N probably damaging Het
Col9a2 C A 4: 120,907,604 (GRCm39) A335E possibly damaging Het
Epb42 A T 2: 120,860,520 (GRCm39) L160M probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Igtp G A 11: 58,097,419 (GRCm39) V197I probably damaging Het
Nup214 G A 2: 31,923,415 (GRCm39) V1315M probably damaging Het
Or4c100 T A 2: 88,356,208 (GRCm39) C94S probably damaging Het
Plek T C 11: 16,940,142 (GRCm39) Y166C probably damaging Het
Prdm4 T C 10: 85,746,153 (GRCm39) N85D probably damaging Het
Prelid1 T G 13: 55,470,007 (GRCm39) V2G probably benign Het
Serac1 T C 17: 6,117,053 (GRCm39) I168V probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc22a5 A G 11: 53,760,152 (GRCm39) V388A probably benign Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Trpv3 A T 11: 73,176,767 (GRCm39) Y382F probably damaging Het
Ubr2 T C 17: 47,279,365 (GRCm39) Y681C probably damaging Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Utp14b T C 1: 78,643,056 (GRCm39) M318T probably damaging Het
Vars2 A T 17: 35,972,866 (GRCm39) I442N probably damaging Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Wtap C T 17: 13,186,425 (GRCm39) R374Q possibly damaging Het
Zfp606 T C 7: 12,223,591 (GRCm39) M34T probably 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
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'- CTGGGTGACAGCCAGGTAAATG -3'
(R):5'- GGGTTGAAAGGGTCATCGTC -3'

Sequencing Primer
(F):5'- AGTGTACATGTGCATACCCTGAGC -3'
(R):5'- AAGGGTCATCGTCATCTGTGTCATC -3'
Posted On 2015-02-18