Incidental Mutation 'R1186:Tchh'
| ID |
226095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tchh
|
| Ensembl Gene |
ENSMUSG00000052415 |
| Gene Name |
trichohyalin |
| Synonyms |
AHF, Thh |
| MMRRC Submission |
039258-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R1186 (G1)
|
| Quality Score |
72 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
93349637-93356384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 93355353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 1598
(R1598G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064257]
|
| AlphaFold |
A0A0B4J1F9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000064257
AA Change: R1598G
|
| SMART Domains |
Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: R1598G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195137
|
| Meta Mutation Damage Score |
0.1011 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.5%
- 10x: 95.7%
- 20x: 90.1%
|
| Validation Efficiency |
97% (69/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
G |
A |
10: 21,497,551 (GRCm39) |
R64Q |
probably benign |
Het |
| 9530068E07Rik |
G |
A |
11: 52,293,905 (GRCm39) |
V49I |
probably benign |
Het |
| A2m |
T |
C |
6: 121,638,493 (GRCm39) |
S902P |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,361,375 (GRCm39) |
|
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,306,746 (GRCm39) |
T1395A |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,427,412 (GRCm39) |
|
probably null |
Het |
| Ank3 |
G |
T |
10: 69,703,290 (GRCm39) |
A308S |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,053,476 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,050,461 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
C |
17: 34,955,283 (GRCm39) |
D769G |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,751,122 (GRCm39) |
S2017P |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,711,856 (GRCm39) |
I2704F |
unknown |
Het |
| Crip2 |
G |
A |
12: 113,108,579 (GRCm39) |
|
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,135,760 (GRCm39) |
I34V |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,618,025 (GRCm39) |
|
probably null |
Het |
| Ddx5 |
T |
C |
11: 106,674,805 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,406,526 (GRCm39) |
L572Q |
probably damaging |
Het |
| Espl1 |
G |
A |
15: 102,212,474 (GRCm39) |
A527T |
probably benign |
Het |
| Fam83d |
A |
G |
2: 158,627,094 (GRCm39) |
D261G |
probably damaging |
Het |
| Fbxo34 |
T |
C |
14: 47,768,043 (GRCm39) |
F468L |
probably damaging |
Het |
| Gabarapl1 |
A |
T |
6: 129,510,368 (GRCm39) |
|
probably benign |
Het |
| Galnt17 |
G |
T |
5: 131,140,580 (GRCm39) |
T179K |
probably damaging |
Het |
| Gm6899 |
C |
T |
11: 26,543,685 (GRCm39) |
|
probably benign |
Het |
| Helz2 |
T |
A |
2: 180,872,921 (GRCm39) |
R2433W |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,671,920 (GRCm39) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,672,326 (GRCm39) |
L225P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,296,307 (GRCm39) |
I195T |
probably benign |
Het |
| Isyna1 |
C |
A |
8: 71,047,851 (GRCm39) |
N115K |
probably benign |
Het |
| Ly6g6e |
T |
C |
17: 35,296,984 (GRCm39) |
F75S |
probably benign |
Het |
| Ly96 |
A |
G |
1: 16,771,118 (GRCm39) |
D101G |
possibly damaging |
Het |
| Mapk9 |
A |
G |
11: 49,769,096 (GRCm39) |
T243A |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,892,470 (GRCm39) |
V48A |
probably benign |
Het |
| Mcpt2 |
C |
T |
14: 56,281,402 (GRCm39) |
|
probably benign |
Het |
| Med24 |
T |
C |
11: 98,608,583 (GRCm39) |
|
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,428,067 (GRCm39) |
G162S |
probably null |
Het |
| Mtfr2 |
G |
A |
10: 20,228,598 (GRCm39) |
C48Y |
probably benign |
Het |
| Naip2 |
AGGG |
AGG |
13: 100,298,545 (GRCm39) |
|
probably null |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Ncoa4-ps |
A |
C |
12: 119,225,206 (GRCm39) |
|
noncoding transcript |
Het |
| Nup107 |
A |
C |
10: 117,613,051 (GRCm39) |
Y292* |
probably null |
Het |
| Nwd2 |
C |
T |
5: 63,807,367 (GRCm39) |
|
probably benign |
Het |
| Nxpe4 |
A |
C |
9: 48,304,692 (GRCm39) |
N260H |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
| Or6z7 |
T |
C |
7: 6,483,541 (GRCm39) |
I205V |
probably benign |
Het |
| Or8b42 |
T |
C |
9: 38,342,397 (GRCm39) |
V273A |
possibly damaging |
Het |
| Or8b47 |
T |
C |
9: 38,435,453 (GRCm39) |
S142P |
probably damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,807 (GRCm39) |
L82M |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,808,514 (GRCm39) |
Y299H |
probably damaging |
Het |
| Per3 |
T |
A |
4: 151,110,595 (GRCm39) |
E401V |
probably damaging |
Het |
| Rbm34 |
C |
A |
8: 127,692,197 (GRCm39) |
E182* |
probably null |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Senp2 |
T |
C |
16: 21,830,254 (GRCm39) |
S38P |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,055,057 (GRCm39) |
|
probably null |
Het |
| Spred1 |
A |
T |
2: 117,008,178 (GRCm39) |
R361S |
possibly damaging |
Het |
| Spry2 |
A |
G |
14: 106,130,341 (GRCm39) |
C282R |
probably damaging |
Het |
| Srp54b |
T |
C |
12: 55,302,313 (GRCm39) |
|
probably benign |
Het |
| Taar8c |
G |
C |
10: 23,977,463 (GRCm39) |
Y116* |
probably null |
Het |
| Tex15 |
A |
G |
8: 34,061,661 (GRCm39) |
M364V |
probably benign |
Het |
| Ttbk1 |
T |
C |
17: 46,778,057 (GRCm39) |
R662G |
probably damaging |
Het |
| Ttc5 |
G |
A |
14: 51,004,683 (GRCm39) |
Q374* |
probably null |
Het |
| Usp46 |
C |
T |
5: 74,162,783 (GRCm39) |
A312T |
probably benign |
Het |
| Vmn1r176 |
A |
T |
7: 23,535,051 (GRCm39) |
L34Q |
probably damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,317 (GRCm39) |
R122* |
probably null |
Het |
| Vmn2r6 |
T |
A |
3: 64,472,488 (GRCm39) |
M78L |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,227,573 (GRCm39) |
I2012N |
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,428,653 (GRCm39) |
G461S |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,310,723 (GRCm39) |
L161F |
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 |
|
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 |
|
|
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'- GTCGCCAGGAACAAGAACTACGTC -3'
(R):5'- CTGAGGGATCTAAGTTTCAGCCTGC -3'
Sequencing Primer
(F):5'- CAGGAACAAGAACTACGTCAAGAAG -3'
(R):5'- GTGCTCCTCAAAGAAAATTCGTTC -3'
|
| Posted On |
2014-09-11 |
Incidental Mutation