Incidental Mutation 'R8893:Tchh'
| ID |
677812 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tchh
|
| Ensembl Gene |
ENSMUSG00000052415 |
| Gene Name |
trichohyalin |
| Synonyms |
AHF, Thh |
| MMRRC Submission |
068696-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R8893 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
93349637-93356384 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to T
at 93354957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 1466
(Q1466*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064257]
|
| AlphaFold |
A0A0B4J1F9 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000064257
AA Change: Q1466*
|
| SMART Domains |
Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: Q1466*
| Domain | Start | End | E-Value | Type |
|---|
|
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: 99.0%
|
| Validation Efficiency |
98% (57/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
C |
8: 13,274,511 (GRCm39) |
D749G |
probably benign |
Het |
| Ank1 |
T |
A |
8: 23,598,241 (GRCm39) |
I782N |
probably damaging |
Het |
| Arap2 |
T |
A |
5: 62,888,037 (GRCm39) |
Q436H |
probably damaging |
Het |
| Baz2b |
A |
C |
2: 59,755,149 (GRCm39) |
F269L |
probably damaging |
Het |
| Bivm |
C |
T |
1: 44,158,439 (GRCm39) |
|
probably benign |
Het |
| Brsk1 |
A |
T |
7: 4,711,089 (GRCm39) |
D603V |
probably damaging |
Het |
| C2cd3 |
C |
T |
7: 100,104,004 (GRCm39) |
P2006S |
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,313,764 (GRCm39) |
F1513L |
probably benign |
Het |
| Cdin1 |
T |
A |
2: 115,505,265 (GRCm39) |
S179T |
probably benign |
Het |
| Cep128 |
C |
T |
12: 91,263,006 (GRCm39) |
E298K |
probably damaging |
Het |
| Cfap74 |
A |
G |
4: 155,531,152 (GRCm39) |
T802A |
unknown |
Het |
| Cnbd2 |
G |
A |
2: 156,154,460 (GRCm39) |
R3Q |
unknown |
Het |
| Cul9 |
TTCCTCCTCCTCCTCCTCCTCCTC |
TTCCTCCTCCTCCTCCTCCTC |
17: 46,811,775 (GRCm39) |
|
probably benign |
Het |
| Defa28 |
C |
T |
8: 22,073,840 (GRCm39) |
T81I |
|
Het |
| Dync1h1 |
A |
G |
12: 110,608,477 (GRCm39) |
D2735G |
probably damaging |
Het |
| Eif5b |
A |
T |
1: 38,090,300 (GRCm39) |
I1160F |
possibly damaging |
Het |
| Fzd9 |
T |
C |
5: 135,279,178 (GRCm39) |
M236V |
possibly damaging |
Het |
| H2ac7 |
A |
G |
13: 23,758,664 (GRCm39) |
Q7R |
unknown |
Het |
| Haus6 |
A |
G |
4: 86,501,364 (GRCm39) |
S836P |
possibly damaging |
Het |
| Hdac5 |
T |
A |
11: 102,097,512 (GRCm39) |
K167I |
possibly damaging |
Het |
| Heatr5b |
C |
G |
17: 79,069,424 (GRCm39) |
|
probably benign |
Het |
| Impdh1 |
G |
A |
6: 29,216,248 (GRCm39) |
|
probably benign |
Het |
| Iqgap3 |
T |
C |
3: 87,997,193 (GRCm39) |
I192T |
probably damaging |
Het |
| Lama1 |
C |
T |
17: 68,112,367 (GRCm39) |
A2269V |
|
Het |
| Lamb3 |
A |
G |
1: 193,014,644 (GRCm39) |
N601S |
probably damaging |
Het |
| Ltbp2 |
G |
T |
12: 84,875,316 (GRCm39) |
N569K |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,304,323 (GRCm39) |
S60G |
probably benign |
Het |
| Marchf6 |
A |
T |
15: 31,498,850 (GRCm39) |
V149E |
probably damaging |
Het |
| Mcu |
A |
G |
10: 59,287,078 (GRCm39) |
S160P |
probably benign |
Het |
| Miga1 |
A |
G |
3: 151,982,294 (GRCm39) |
L594P |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Ndst2 |
A |
G |
14: 20,774,830 (GRCm39) |
I791T |
probably benign |
Het |
| Nebl |
A |
T |
2: 17,735,671 (GRCm39) |
M1K |
probably null |
Het |
| Or2bd2 |
T |
C |
7: 6,443,285 (GRCm39) |
C129R |
probably damaging |
Het |
| Or5c1 |
A |
G |
2: 37,222,388 (GRCm39) |
I210V |
probably damaging |
Het |
| Ormdl1 |
A |
T |
1: 53,344,708 (GRCm39) |
D90V |
probably damaging |
Het |
| Pank1 |
A |
T |
19: 34,804,903 (GRCm39) |
|
probably benign |
Het |
| Pcdhac2 |
T |
A |
18: 37,277,071 (GRCm39) |
L17Q |
probably benign |
Het |
| Pde3a |
A |
T |
6: 141,405,522 (GRCm39) |
D458V |
probably damaging |
Het |
| Pgm1 |
T |
G |
4: 99,824,297 (GRCm39) |
N323K |
probably damaging |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pigw |
A |
T |
11: 84,767,961 (GRCm39) |
I456K |
possibly damaging |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Plxnc1 |
T |
A |
10: 94,685,709 (GRCm39) |
I761L |
probably benign |
Het |
| Pramel22 |
A |
T |
4: 143,382,060 (GRCm39) |
M212K |
probably damaging |
Het |
| Prkaca |
A |
G |
8: 84,717,151 (GRCm39) |
N172D |
probably damaging |
Het |
| Rab3b |
A |
C |
4: 108,797,925 (GRCm39) |
D192A |
probably benign |
Het |
| Rims2 |
T |
C |
15: 39,398,350 (GRCm39) |
L1105P |
probably benign |
Het |
| Rinl |
T |
A |
7: 28,491,747 (GRCm39) |
I100N |
probably damaging |
Het |
| Rnf13 |
T |
G |
3: 57,714,520 (GRCm39) |
I193S |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,333,868 (GRCm39) |
I3027V |
|
Het |
| Sik2 |
A |
T |
9: 50,810,026 (GRCm39) |
S512R |
probably damaging |
Het |
| Snx17 |
A |
G |
5: 31,353,887 (GRCm39) |
Y225C |
probably damaging |
Het |
| Spata13 |
A |
T |
14: 60,987,524 (GRCm39) |
D894V |
probably damaging |
Het |
| Spx |
A |
G |
6: 142,360,543 (GRCm39) |
D65G |
probably damaging |
Het |
| Syne1 |
G |
T |
10: 5,299,020 (GRCm39) |
S1022* |
probably null |
Het |
| Tmem120b |
T |
C |
5: 123,254,302 (GRCm39) |
L292P |
probably damaging |
Het |
| Vmn2r10 |
T |
C |
5: 109,143,677 (GRCm39) |
T758A |
probably benign |
Het |
| Vmn2r45 |
C |
T |
7: 8,488,619 (GRCm39) |
C137Y |
probably damaging |
Het |
| Zfp994 |
A |
G |
17: 22,424,306 (GRCm39) |
S4P |
probably damaging |
Het |
|
| Other mutations in Tchh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
|
|
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'- ACGCGAGCAACAGTTGAGAC -3'
(R):5'- TGCTCCTCAGCCAGGTATTG -3'
Sequencing Primer
(F):5'- CGCGACAGAAGAGTCCTTG -3'
(R):5'- GGTATTGACCATCTCGCTTCTC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation