Incidental Mutation 'R7449:Tchh'
ID 577542
Institutional Source Beutler Lab
Gene Symbol Tchh
Ensembl Gene ENSMUSG00000052415
Gene Name trichohyalin
Synonyms AHF, Thh
MMRRC Submission 045524-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R7449 (G1)
Quality Score 189.462
Status Not validated
Chromosome 3
Chromosomal Location 93349637-93356384 bp(+) (GRCm39)
Type of Mutation small deletion (12 aa in frame mutation)
DNA Base Change (assembly) CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC to CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC at 93354015 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000069525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064257]
AlphaFold A0A0B4J1F9
Predicted Effect probably benign
Transcript: ENSMUST00000064257
SMART Domains Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,035,131 (GRCm39) Y306N possibly damaging Het
Adgrv1 A T 13: 81,647,192 (GRCm39) V3116D probably damaging Het
Adss1 A T 12: 112,600,585 (GRCm39) T185S probably damaging Het
Ago2 G A 15: 73,018,348 (GRCm39) P30L probably damaging Het
Arb2a A G 13: 77,907,561 (GRCm39) I41V probably damaging Het
Atp5pf C T 16: 84,628,251 (GRCm39) V44M probably benign Het
Atp7b T A 8: 22,501,865 (GRCm39) I833F probably damaging Het
Birc6 T A 17: 75,009,336 (GRCm39) N4869K probably benign Het
Cacna1c C T 6: 118,579,310 (GRCm39) D1796N Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cnga1 A G 5: 72,762,647 (GRCm39) I289T probably benign Het
Crybg1 C A 10: 43,880,515 (GRCm39) E224D probably benign Het
Dysf T C 6: 84,114,362 (GRCm39) L1217P possibly damaging Het
Ebf2 T A 14: 67,647,469 (GRCm39) N339K probably damaging Het
Eva1c T C 16: 90,673,081 (GRCm39) probably null Het
Fam184a T C 10: 53,574,730 (GRCm39) E293G probably damaging Het
Folh1 G A 7: 86,380,956 (GRCm39) P506S probably benign Het
Ftcd A T 10: 76,415,997 (GRCm39) K210N probably benign Het
Gdf6 T A 4: 9,844,494 (GRCm39) V6D possibly damaging Het
Ghitm C A 14: 36,853,538 (GRCm39) G101C probably damaging Het
Gimap5 T A 6: 48,729,838 (GRCm39) V136D probably damaging Het
Grm4 C T 17: 27,654,345 (GRCm39) G535D probably damaging Het
Gse1 T C 8: 120,956,450 (GRCm39) S314P unknown Het
Hnrnpdl A G 5: 100,185,014 (GRCm39) I279T probably damaging Het
Idi2l T A 13: 8,993,340 (GRCm39) H51L probably damaging Het
Itpr1 T C 6: 108,366,345 (GRCm39) S923P probably damaging Het
Krt39 C A 11: 99,408,887 (GRCm39) C303F probably benign Het
Lrrn1 T C 6: 107,545,482 (GRCm39) S427P possibly damaging Het
Lrrn3 T A 12: 41,503,487 (GRCm39) R277W probably damaging Het
Ltb4r1 T C 14: 56,005,375 (GRCm39) L226P probably damaging Het
Map1b C T 13: 99,644,648 (GRCm39) R85Q probably damaging Het
Mcoln1 T C 8: 3,557,285 (GRCm39) L125P probably damaging Het
Nid1 T G 13: 13,656,636 (GRCm39) V589G probably damaging Het
Nlrp5 T G 7: 23,116,951 (GRCm39) F225C probably benign Het
Notch3 C T 17: 32,376,940 (GRCm39) A322T probably damaging Het
Or14c43 A G 7: 86,115,063 (GRCm39) H148R probably benign Het
Or52a5b G T 7: 103,417,026 (GRCm39) Q193K probably benign Het
Or7g34 T A 9: 19,478,162 (GRCm39) T173S probably benign Het
Otogl A G 10: 107,639,524 (GRCm39) C1363R probably damaging Het
Ovol1 T A 19: 5,603,625 (GRCm39) D92V probably benign Het
Pigt T C 2: 164,344,419 (GRCm39) L356P probably damaging Het
Plekhg3 A G 12: 76,612,996 (GRCm39) Q434R probably damaging Het
Plekhh1 T C 12: 79,126,326 (GRCm39) F1344L probably benign Het
Polr1has A G 17: 37,275,275 (GRCm39) D16G probably damaging Het
Psmd3 T A 11: 98,586,377 (GRCm39) L515Q probably damaging Het
Pus1 A G 5: 110,922,452 (GRCm39) L405P probably damaging Het
Qtrt2 T A 16: 43,701,395 (GRCm39) H55L probably benign Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Raver2 T A 4: 100,959,860 (GRCm39) H113Q probably damaging Het
Recql4 T C 15: 76,589,765 (GRCm39) D760G unknown Het
Rhobtb3 C T 13: 76,058,860 (GRCm39) V313M probably benign Het
Rhox4d G A X: 36,700,645 (GRCm39) G191E unknown Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rnf185 T C 11: 3,376,578 (GRCm39) Q135R probably benign Het
Sema3f T C 9: 107,561,235 (GRCm39) S584G probably damaging Het
Sh3pxd2a T A 19: 47,256,091 (GRCm39) T904S probably benign Het
Slc4a10 T C 2: 62,134,290 (GRCm39) V1002A probably benign Het
Taf1b T C 12: 24,554,992 (GRCm39) I55T probably benign Het
Tenm4 A T 7: 96,523,420 (GRCm39) D1654V possibly damaging Het
Tgfb1 G A 7: 25,404,263 (GRCm39) V357M probably damaging Het
Tnxb C T 17: 34,922,335 (GRCm39) P2383S possibly damaging Het
Trpm1 A T 7: 63,858,723 (GRCm39) M382L probably benign Het
Trrap A G 5: 144,788,019 (GRCm39) Y3516C probably damaging Het
Txnrd1 T A 10: 82,721,067 (GRCm39) Y494* probably null Het
Ubr2 C T 17: 47,275,714 (GRCm39) E811K probably damaging Het
Ubxn4 T A 1: 128,172,280 (GRCm39) F25I possibly damaging Het
Vmn2r117 A G 17: 23,678,869 (GRCm39) M785T probably damaging Het
Vmn2r99 G A 17: 19,599,407 (GRCm39) D364N probably benign Het
Vps45 C A 3: 95,954,448 (GRCm39) probably null Het
Wdr25 A C 12: 108,992,367 (GRCm39) H426P probably damaging Het
Wdr83 A T 8: 85,806,310 (GRCm39) W136R probably damaging Het
Xylt1 A C 7: 117,191,232 (GRCm39) I343L possibly damaging Het
Zscan4b T C 7: 10,637,985 (GRCm39) Q53R possibly damaging 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
R5768:Tchh UTSW 3 93,353,488 (GRCm39) missense unknown
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
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'- GGAACCGGACAGAAGATTCC -3'
(R):5'- TCACGGACTTTTCTGTCACG -3'

Sequencing Primer
(F):5'- CTGCGGGACAGTAAGATCC -3'
(R):5'- TGTCACGTTCCTGGCGC -3'
Posted On 2019-10-07