Incidental Mutation 'R8676:Tchh'
| ID |
661367 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tchh
|
| Ensembl Gene |
ENSMUSG00000052415 |
| Gene Name |
trichohyalin |
| Synonyms |
AHF, Thh |
| MMRRC Submission |
068531-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R8676 (G1)
|
| Quality Score |
170.458 |
|
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
| 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: 99.1%
|
| Validation Efficiency |
93% (54/58) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
G |
A |
4: 144,396,683 (GRCm39) |
R350C |
possibly damaging |
Het |
| Acsm3 |
T |
A |
7: 119,374,392 (GRCm39) |
S281R |
probably damaging |
Het |
| Adipor2 |
G |
T |
6: 119,340,447 (GRCm39) |
|
probably benign |
Het |
| Alk |
T |
C |
17: 72,204,936 (GRCm39) |
S1079G |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,302,009 (GRCm39) |
|
probably null |
Het |
| Anxa6 |
C |
A |
11: 54,892,108 (GRCm39) |
E283* |
probably null |
Het |
| Bnc2 |
T |
C |
4: 84,194,550 (GRCm39) |
H858R |
possibly damaging |
Het |
| Btnl6 |
T |
C |
17: 34,727,043 (GRCm39) |
S496G |
probably benign |
Het |
| Ccdc88a |
T |
C |
11: 29,410,860 (GRCm39) |
S449P |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,246,689 (GRCm39) |
D916E |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,736,456 (GRCm39) |
L1345H |
possibly damaging |
Het |
| Cyld |
A |
T |
8: 89,456,138 (GRCm39) |
H396L |
probably benign |
Het |
| Cyp20a1 |
A |
G |
1: 60,418,579 (GRCm39) |
T340A |
possibly damaging |
Het |
| Czib |
A |
G |
4: 107,752,796 (GRCm39) |
N152D |
unknown |
Het |
| Dera |
A |
T |
6: 137,807,202 (GRCm39) |
I217F |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,154,539 (GRCm39) |
L247P |
probably damaging |
Het |
| Eftud2 |
G |
A |
11: 102,759,447 (GRCm39) |
T152M |
probably damaging |
Het |
| Entrep1 |
T |
C |
19: 23,965,858 (GRCm39) |
K214E |
probably damaging |
Het |
| Epb41l2 |
C |
T |
10: 25,319,674 (GRCm39) |
T169M |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,845,023 (GRCm39) |
D407G |
unknown |
Het |
| Gli3 |
T |
A |
13: 15,889,619 (GRCm39) |
C578S |
probably damaging |
Het |
| Gm6408 |
A |
G |
5: 146,419,237 (GRCm39) |
N84S |
probably benign |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,838,361 (GRCm39) |
T3296K |
probably damaging |
Het |
| Hnf4g |
A |
T |
3: 3,708,133 (GRCm39) |
|
probably benign |
Het |
| Hyal4 |
C |
A |
6: 24,755,826 (GRCm39) |
Q15K |
probably damaging |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Kcna3 |
A |
G |
3: 106,943,908 (GRCm39) |
E57G |
probably damaging |
Het |
| Kcnc3 |
C |
A |
7: 44,241,020 (GRCm39) |
D237E |
probably benign |
Het |
| Map3k8 |
A |
G |
18: 4,343,137 (GRCm39) |
V130A |
probably benign |
Het |
| Mpp7 |
A |
G |
18: 7,440,430 (GRCm39) |
|
probably null |
Het |
| Mtres1 |
A |
G |
10: 43,408,933 (GRCm39) |
L70S |
probably benign |
Het |
| Myh13 |
T |
A |
11: 67,233,311 (GRCm39) |
L610Q |
probably damaging |
Het |
| Or13p5 |
C |
A |
4: 118,592,235 (GRCm39) |
P170T |
probably damaging |
Het |
| Or5ap2 |
T |
A |
2: 85,680,246 (GRCm39) |
M150K |
probably benign |
Het |
| Or8b52 |
T |
C |
9: 38,577,064 (GRCm39) |
I25M |
probably benign |
Het |
| Pcdhb5 |
A |
T |
18: 37,454,129 (GRCm39) |
T170S |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,516,251 (GRCm39) |
H626Q |
probably benign |
Het |
| Prkg1 |
A |
T |
19: 31,742,146 (GRCm39) |
L26Q |
probably damaging |
Het |
| Prob1 |
T |
C |
18: 35,787,039 (GRCm39) |
N405S |
possibly damaging |
Het |
| Proz |
T |
G |
8: 13,123,630 (GRCm39) |
S300R |
probably damaging |
Het |
| Psg19 |
A |
G |
7: 18,527,990 (GRCm39) |
I251T |
probably benign |
Het |
| Rcbtb1 |
T |
C |
14: 59,467,401 (GRCm39) |
I413T |
possibly damaging |
Het |
| Rnf144b |
T |
A |
13: 47,382,452 (GRCm39) |
Y103N |
probably damaging |
Het |
| Rspry1 |
G |
C |
8: 95,358,747 (GRCm39) |
G194R |
probably benign |
Het |
| Scn2b |
A |
G |
9: 45,036,917 (GRCm39) |
I142V |
probably damaging |
Het |
| Spata20 |
A |
T |
11: 94,372,607 (GRCm39) |
L588H |
probably damaging |
Het |
| Stk32b |
T |
A |
5: 37,614,503 (GRCm39) |
H335L |
probably benign |
Het |
| Taar4 |
A |
C |
10: 23,836,801 (GRCm39) |
D137A |
possibly damaging |
Het |
| Tek |
A |
T |
4: 94,738,074 (GRCm39) |
H708L |
probably benign |
Het |
| Tmem89 |
C |
T |
9: 108,744,095 (GRCm39) |
L132F |
unknown |
Het |
| Ugt2b38 |
T |
C |
5: 87,559,681 (GRCm39) |
I404V |
probably benign |
Het |
| Vmn1r16 |
C |
T |
6: 57,299,814 (GRCm39) |
M269I |
probably benign |
Het |
| Vmn1r201 |
A |
G |
13: 22,659,422 (GRCm39) |
K212R |
probably damaging |
Het |
| Vmn2r11 |
A |
C |
5: 109,201,626 (GRCm39) |
F293V |
probably damaging |
Het |
| Zdhhc17 |
A |
T |
10: 110,798,240 (GRCm39) |
|
probably benign |
Het |
| Zfp423 |
C |
A |
8: 88,509,338 (GRCm39) |
M335I |
probably benign |
Het |
| Zfp74 |
T |
C |
7: 29,634,079 (GRCm39) |
Y543C |
probably damaging |
Het |
| Zfp975 |
A |
T |
7: 42,312,264 (GRCm39) |
S116R |
probably benign |
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 |
|
|
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'- AACCGGACAGAAGATTCCGC -3'
(R):5'- TCACGGACTTTTCTGTCACG -3'
Sequencing Primer
(F):5'- CTGCGGGACAGTAAGATCC -3'
(R):5'- TGTCACGTTCCTGGCGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation