Incidental Mutation 'R5768:Tchh'
ID 446370
Institutional Source Beutler Lab
Gene Symbol Tchh
Ensembl Gene ENSMUSG00000052415
Gene Name trichohyalin
Synonyms AHF, Thh
MMRRC Submission 043368-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R5768 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 93349637-93356384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 93353488 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 976 (E976V)
Ref Sequence ENSEMBL: ENSMUSP00000069525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064257]
AlphaFold A0A0B4J1F9
Predicted Effect unknown
Transcript: ENSMUST00000064257
AA Change: E976V
SMART Domains Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: E976V

DomainStartEndE-ValueType
Pfam:S_100 4 46 3.5e-15 PFAM
Blast:EFh 53 81 4e-9 BLAST
low complexity region 110 123 N/A INTRINSIC
coiled coil region 137 370 N/A INTRINSIC
internal_repeat_2 374 384 2.35e-6 PROSPERO
internal_repeat_1 382 400 4.53e-15 PROSPERO
low complexity region 403 431 N/A INTRINSIC
internal_repeat_2 432 442 2.35e-6 PROSPERO
low complexity region 443 469 N/A INTRINSIC
low complexity region 480 494 N/A INTRINSIC
low complexity region 497 511 N/A INTRINSIC
coiled coil region 516 625 N/A INTRINSIC
internal_repeat_1 627 645 4.53e-15 PROSPERO
coiled coil region 661 700 N/A INTRINSIC
low complexity region 717 734 N/A INTRINSIC
coiled coil region 738 821 N/A INTRINSIC
low complexity region 827 844 N/A INTRINSIC
low complexity region 847 864 N/A INTRINSIC
low complexity region 867 905 N/A INTRINSIC
coiled coil region 927 1049 N/A INTRINSIC
coiled coil region 1073 1263 N/A INTRINSIC
coiled coil region 1295 1570 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195137
Meta Mutation Damage Score 0.1002 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 G A 5: 8,177,426 (GRCm39) T561I probably benign Het
Akp3 T C 1: 87,054,844 (GRCm39) I393T probably damaging Het
Atxn10 A T 15: 85,277,621 (GRCm39) I363F probably benign Het
BC004004 A T 17: 29,501,709 (GRCm39) S83C probably damaging Het
Bin1 T A 18: 32,559,264 (GRCm39) probably null Het
Cacna1c A G 6: 118,674,641 (GRCm39) I541T probably damaging Het
Cand1 A G 10: 119,046,910 (GRCm39) V860A probably benign Het
Ccdc69 T C 11: 54,945,856 (GRCm39) N50S possibly damaging Het
Cd209d T A 8: 3,921,968 (GRCm39) T235S probably benign Het
Cdhr3 G T 12: 33,096,685 (GRCm39) T591K possibly damaging Het
Cherp C T 8: 73,216,957 (GRCm39) D658N probably damaging Het
Clip4 T A 17: 72,113,494 (GRCm39) probably null Het
Cryzl1 C T 16: 91,492,242 (GRCm39) V195M probably damaging Het
Cst11 A T 2: 148,612,387 (GRCm39) Y83* probably null Het
Ddb2 T C 2: 91,042,337 (GRCm39) S419G possibly damaging Het
Ddi2 A T 4: 141,412,901 (GRCm39) L4M probably damaging Het
Dip2b C A 15: 100,055,826 (GRCm39) P393T probably benign Het
Dnmt3a G A 12: 3,935,660 (GRCm39) probably null Het
Elf5 C T 2: 103,279,367 (GRCm39) S196L probably damaging Het
Eps15 C G 4: 109,220,373 (GRCm39) probably null Het
Fra10ac1 T C 19: 38,195,734 (GRCm39) E163G probably benign Het
Gc T C 5: 89,589,125 (GRCm39) T213A probably damaging Het
Grpel1 A T 5: 36,622,503 (GRCm39) probably benign Het
Gsdme G A 6: 50,196,280 (GRCm39) Q377* probably null Het
Hira T C 16: 18,753,768 (GRCm39) probably benign Het
Hsd11b1 T A 1: 192,922,554 (GRCm39) I168F probably damaging Het
Htr6 G A 4: 138,789,015 (GRCm39) R347W probably damaging Het
Ipp A C 4: 116,367,967 (GRCm39) T67P probably damaging Het
Lrfn5 G A 12: 61,886,509 (GRCm39) R99Q probably benign Het
Madd T A 2: 90,998,174 (GRCm39) I649F probably damaging Het
Map2k7 T A 8: 4,295,757 (GRCm39) D368E probably benign Het
Mppe1 T G 18: 67,358,889 (GRCm39) T360P possibly damaging Het
Msi2 A G 11: 88,608,564 (GRCm39) F2L probably damaging Het
Nectin3 T C 16: 46,279,180 (GRCm39) Q266R probably damaging Het
Nfasc T C 1: 132,532,883 (GRCm39) H691R probably benign Het
Oprm1 G A 10: 6,739,026 (GRCm39) G51D probably damaging Het
Or4c117 T C 2: 88,955,793 (GRCm39) E94G probably benign Het
Or5ac15 TGAAGAAGAA TGAAGAA 16: 58,940,335 (GRCm39) probably benign Het
Papss2 G A 19: 32,638,119 (GRCm39) probably null Het
Pi4ka T C 16: 17,172,736 (GRCm39) K549E probably benign Het
Plekha6 A G 1: 133,208,116 (GRCm39) T596A probably benign Het
Polr2f A G 15: 79,035,845 (GRCm39) D117G probably damaging Het
Psd T C 19: 46,301,178 (GRCm39) E381G possibly damaging Het
Rfx6 G A 10: 51,602,976 (GRCm39) R831H probably damaging Het
Rpp25l A T 4: 41,712,649 (GRCm39) L42Q probably damaging Het
Ryr3 T C 2: 112,583,442 (GRCm39) M2810V probably benign Het
Sdk1 C A 5: 142,129,626 (GRCm39) L1616I probably benign Het
Spock2 T A 10: 59,962,029 (GRCm39) F215I probably damaging Het
Susd2 C T 10: 75,473,853 (GRCm39) A581T probably damaging Het
Tgfbr3 T C 5: 107,297,761 (GRCm39) E213G probably benign Het
Tmed1 T C 9: 21,420,619 (GRCm39) D71G probably benign Het
Tmtc4 T A 14: 123,170,565 (GRCm39) K527N possibly damaging Het
Zfhx2 T C 14: 55,311,822 (GRCm39) T291A probably benign Het
Other mutations in Tchh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00155:Tchh APN 3 93,352,606 (GRCm39) missense unknown
IGL00338:Tchh APN 3 93,354,951 (GRCm39) missense unknown
IGL00541:Tchh APN 3 93,353,557 (GRCm39) missense unknown
IGL02510:Tchh APN 3 93,351,385 (GRCm39) missense unknown
IGL02622:Tchh APN 3 93,350,719 (GRCm39) missense probably damaging 1.00
IGL03164:Tchh APN 3 93,352,699 (GRCm39) missense unknown
IGL03331:Tchh APN 3 93,350,725 (GRCm39) missense probably damaging 1.00
PIT4453001:Tchh UTSW 3 93,353,187 (GRCm39) missense unknown
R0334:Tchh UTSW 3 93,352,923 (GRCm39) missense unknown
R0603:Tchh UTSW 3 93,351,088 (GRCm39) missense possibly damaging 0.91
R1186:Tchh UTSW 3 93,355,353 (GRCm39) missense unknown
R1241:Tchh UTSW 3 93,352,279 (GRCm39) missense unknown
R1610:Tchh UTSW 3 93,352,146 (GRCm39) missense unknown
R1768:Tchh UTSW 3 93,350,882 (GRCm39) missense possibly damaging 0.68
R1843:Tchh UTSW 3 93,354,087 (GRCm39) missense unknown
R1866:Tchh UTSW 3 93,355,067 (GRCm39) missense unknown
R1978:Tchh UTSW 3 93,354,106 (GRCm39) missense unknown
R2008:Tchh UTSW 3 93,353,281 (GRCm39) missense unknown
R2011:Tchh UTSW 3 93,354,268 (GRCm39) missense unknown
R2087:Tchh UTSW 3 93,351,225 (GRCm39) missense unknown
R2177:Tchh UTSW 3 93,351,439 (GRCm39) missense unknown
R2292:Tchh UTSW 3 93,349,689 (GRCm39) missense probably damaging 1.00
R2418:Tchh UTSW 3 93,352,936 (GRCm39) missense unknown
R2877:Tchh UTSW 3 93,351,535 (GRCm39) missense unknown
R2995:Tchh UTSW 3 93,355,057 (GRCm39) small deletion probably benign
R2997:Tchh UTSW 3 93,355,057 (GRCm39) small deletion probably benign
R3439:Tchh UTSW 3 93,354,700 (GRCm39) missense unknown
R3440:Tchh UTSW 3 93,352,414 (GRCm39) missense unknown
R3441:Tchh UTSW 3 93,352,414 (GRCm39) missense unknown
R4063:Tchh UTSW 3 93,354,298 (GRCm39) missense unknown
R4550:Tchh UTSW 3 93,352,617 (GRCm39) missense unknown
R4720:Tchh UTSW 3 93,355,189 (GRCm39) missense unknown
R4836:Tchh UTSW 3 93,354,895 (GRCm39) missense unknown
R4836:Tchh UTSW 3 93,352,455 (GRCm39) missense unknown
R4880:Tchh UTSW 3 93,351,130 (GRCm39) missense possibly damaging 0.85
R4895:Tchh UTSW 3 93,352,993 (GRCm39) missense unknown
R5188:Tchh UTSW 3 93,353,986 (GRCm39) missense unknown
R5404:Tchh UTSW 3 93,354,982 (GRCm39) missense unknown
R5435:Tchh UTSW 3 93,350,979 (GRCm39) missense possibly damaging 0.53
R5578:Tchh UTSW 3 93,351,618 (GRCm39) nonsense probably null
R5678:Tchh UTSW 3 93,352,933 (GRCm39) missense unknown
R5697:Tchh UTSW 3 93,352,350 (GRCm39) nonsense probably null
R5809:Tchh UTSW 3 93,352,880 (GRCm39) missense unknown
R5934:Tchh UTSW 3 93,351,419 (GRCm39) missense unknown
R5945:Tchh UTSW 3 93,352,644 (GRCm39) missense unknown
R6313:Tchh UTSW 3 93,355,158 (GRCm39) missense unknown
R6329:Tchh UTSW 3 93,353,752 (GRCm39) missense unknown
R6397:Tchh UTSW 3 93,353,173 (GRCm39) missense unknown
R6818:Tchh UTSW 3 93,350,718 (GRCm39) missense probably damaging 1.00
R6997:Tchh UTSW 3 93,354,015 (GRCm39) small deletion probably benign
R7174:Tchh UTSW 3 93,353,478 (GRCm39) missense unknown
R7268:Tchh UTSW 3 93,354,015 (GRCm39) small deletion probably benign
R7270:Tchh UTSW 3 93,351,837 (GRCm39) missense unknown
R7449:Tchh UTSW 3 93,354,015 (GRCm39) small deletion probably benign
R7745:Tchh UTSW 3 93,352,084 (GRCm39) missense unknown
R8201:Tchh UTSW 3 93,350,781 (GRCm39) missense probably damaging 0.98
R8375:Tchh UTSW 3 93,354,015 (GRCm39) small deletion probably benign
R8438:Tchh UTSW 3 93,354,015 (GRCm39) small deletion probably benign
R8676:Tchh UTSW 3 93,354,015 (GRCm39) small deletion probably benign
R8801:Tchh UTSW 3 93,354,015 (GRCm39) small deletion probably benign
R8893:Tchh UTSW 3 93,354,957 (GRCm39) nonsense probably null
R9104:Tchh UTSW 3 93,354,610 (GRCm39) missense unknown
R9318:Tchh UTSW 3 93,354,051 (GRCm39) missense unknown
R9328:Tchh UTSW 3 93,351,570 (GRCm39) missense unknown
R9386:Tchh UTSW 3 93,354,346 (GRCm39) missense unknown
R9499:Tchh UTSW 3 93,354,015 (GRCm39) small deletion probably benign
R9553:Tchh UTSW 3 93,355,125 (GRCm39) nonsense probably null
R9644:Tchh UTSW 3 93,354,666 (GRCm39) missense unknown
Z1088:Tchh UTSW 3 93,352,989 (GRCm39) nonsense probably null
Z1176:Tchh UTSW 3 93,354,166 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- ATCTCGTGAACAAGAGCGCC -3'
(R):5'- GGAATTTTCTGTCGCGCCTG -3'

Sequencing Primer
(F):5'- AACGCCACCTGGAACGTGAG -3'
(R):5'- GAGCTCTTGTTCCCTGCGG -3'
Posted On 2016-11-21