Incidental Mutation 'R7174:Tchh'
ID 558471
Institutional Source Beutler Lab
Gene Symbol Tchh
Ensembl Gene ENSMUSG00000052415
Gene Name trichohyalin
Synonyms AHF, Thh
MMRRC Submission 045266-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.055) question?
Stock # R7174 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 93349637-93356384 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93353478 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 973 (R973C)
Ref Sequence ENSEMBL: ENSMUSP00000069525 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064257]
AlphaFold A0A0B4J1F9
Predicted Effect unknown
Transcript: ENSMUST00000064257
AA Change: R973C
SMART Domains Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: R973C

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 97% (61/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C A 5: 144,981,627 (GRCm39) A154E probably benign Het
Adamts1 C A 16: 85,596,060 (GRCm39) A419S probably benign Het
Arap2 C G 5: 62,761,621 (GRCm39) V1702L probably benign Het
Arpc1a C T 5: 145,034,087 (GRCm39) P152S probably benign Het
Bbs10 T A 10: 111,136,628 (GRCm39) C580* probably null Het
Bcam A G 7: 19,499,376 (GRCm39) Y216H probably damaging Het
C2cd3 T C 7: 100,081,405 (GRCm39) S1016P Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ceacam5 T A 7: 17,491,839 (GRCm39) probably null Het
Cfap57 A G 4: 118,446,264 (GRCm39) V666A probably benign Het
Cntn3 A G 6: 102,142,305 (GRCm39) F1021L probably benign Het
Cr1l C T 1: 194,811,497 (GRCm39) G119D probably benign Het
Fgf10 A T 13: 118,851,942 (GRCm39) H8L probably benign Het
Fras1 T A 5: 96,903,436 (GRCm39) probably null Het
Frem1 G T 4: 82,840,493 (GRCm39) T1811N probably benign Het
Fsd1 A T 17: 56,298,356 (GRCm39) Q227L probably benign Het
Galk2 A G 2: 125,738,621 (GRCm39) I138M probably damaging Het
Igkv8-30 A G 6: 70,094,582 (GRCm39) V7A possibly damaging Het
Katnb1 G A 8: 95,824,069 (GRCm39) A450T probably benign Het
Kif14 A T 1: 136,448,995 (GRCm39) E1465V possibly damaging Het
Klra3 A T 6: 130,312,941 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lepr A G 4: 101,607,535 (GRCm39) N251S probably benign Het
Lrp2 T C 2: 69,263,416 (GRCm39) M4379V probably benign Het
Lrriq1 T C 10: 103,060,826 (GRCm39) N92S probably benign Het
Map3k13 A G 16: 21,745,006 (GRCm39) N855S probably damaging Het
Marf1 T A 16: 13,954,817 (GRCm39) D900V probably damaging Het
Nckap5l A T 15: 99,321,884 (GRCm39) M1087K probably benign Het
Nlrp9c T C 7: 26,084,722 (GRCm39) N286D probably benign Het
Or12j4 T C 7: 140,047,076 (GRCm39) *321Q probably null Het
Or13c7d C T 4: 43,770,691 (GRCm39) A107T not run Het
Or4k2 T C 14: 50,424,153 (GRCm39) I175V probably benign Het
Or51ah3 A T 7: 103,210,598 (GRCm39) R305* probably null Het
Or5g9 C T 2: 85,552,297 (GRCm39) P183S possibly damaging Het
Or5p72 T A 7: 108,022,367 (GRCm39) S196R probably benign Het
Pcdhga3 A G 18: 37,808,980 (GRCm39) T478A probably benign Het
Pdgfrb T C 18: 61,199,587 (GRCm39) I385T probably benign Het
Poteg C T 8: 27,943,305 (GRCm39) R192W probably benign Het
Prmt2 G T 10: 76,061,173 (GRCm39) D104E probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rlbp1 T C 7: 79,027,090 (GRCm39) N190S possibly damaging Het
Ryr2 T C 13: 11,816,063 (GRCm39) D641G possibly damaging Het
Sh3gl1 A T 17: 56,324,846 (GRCm39) M303K probably benign Het
Slc26a5 A G 5: 22,018,892 (GRCm39) V649A probably damaging Het
Slco4c1 T C 1: 96,765,323 (GRCm39) N376D possibly damaging Het
Socs3 A T 11: 117,858,553 (GRCm39) Y168* probably null Het
Spata31d1d A T 13: 59,876,394 (GRCm39) N380K possibly damaging Het
Speer1c T C 5: 10,295,237 (GRCm39) K56E probably damaging Het
Ssbp3 A G 4: 106,894,843 (GRCm39) N254S probably benign Het
Stard10 C T 7: 100,995,226 (GRCm39) S326L probably damaging Het
Taf2 T C 15: 54,912,135 (GRCm39) D524G possibly damaging Het
Taf7 A T 18: 37,776,053 (GRCm39) S171R probably damaging Het
Tmem67 T C 4: 12,077,337 (GRCm39) R172G possibly damaging Het
Top2a C A 11: 98,914,922 (GRCm39) probably benign Het
Ttc8 T A 12: 98,940,960 (GRCm39) N323K possibly damaging Het
Txnl1 T C 18: 63,804,667 (GRCm39) N276D probably benign Het
Usp24 T G 4: 106,219,878 (GRCm39) probably null Het
Vmn1r18 A C 6: 57,366,609 (GRCm39) probably null Het
Vmn2r53 A T 7: 12,315,628 (GRCm39) H730Q probably benign Het
Wnk1 A C 6: 119,947,939 (GRCm39) I500M probably damaging Het
Zfp335 A T 2: 164,744,423 (GRCm39) Y451N probably damaging Het
Zfp683 T A 4: 133,783,064 (GRCm39) I176N probably 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
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'- AATCTCGTGAACAAGAGCGC -3'
(R):5'- GGAATTTTCTGTCGCGCCTG -3'

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