Incidental Mutation 'R1186:Tchh'
| ID |
226095 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tchh
|
| Ensembl Gene |
ENSMUSG00000052415 |
| Gene Name |
trichohyalin |
| Synonyms |
Thh, AHF |
| MMRRC Submission |
039258-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.062)
|
| Stock # |
R1186 (G1)
|
| Quality Score |
72 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
93442330-93449077 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to G
at 93448046 bp (GRCm38)
|
| 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: 21,621,652 (GRCm38) |
R64Q |
probably benign |
Het |
| 9530068E07Rik |
G |
A |
11: 52,403,078 (GRCm38) |
V49I |
probably benign |
Het |
| A2m |
T |
C |
6: 121,661,534 (GRCm38) |
S902P |
probably benign |
Het |
| Aatf |
A |
T |
11: 84,470,549 (GRCm38) |
|
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,388,509 (GRCm38) |
T1395A |
probably benign |
Het |
| Alpk2 |
T |
C |
18: 65,294,341 (GRCm38) |
|
probably null |
Het |
| Ank3 |
G |
T |
10: 69,867,460 (GRCm38) |
A308S |
probably damaging |
Het |
| Arap1 |
A |
G |
7: 101,404,269 (GRCm38) |
|
probably benign |
Het |
| Bltp1 |
T |
C |
3: 36,996,312 (GRCm38) |
|
probably benign |
Het |
| C4b |
T |
C |
17: 34,736,309 (GRCm38) |
D769G |
possibly damaging |
Het |
| Cep350 |
A |
G |
1: 155,875,376 (GRCm38) |
S2017P |
probably damaging |
Het |
| Cfap54 |
T |
A |
10: 92,875,994 (GRCm38) |
I2704F |
unknown |
Het |
| Crip2 |
G |
A |
12: 113,144,959 (GRCm38) |
|
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 32,916,786 (GRCm38) |
I34V |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,754,629 (GRCm38) |
|
probably null |
Het |
| Ddx5 |
T |
C |
11: 106,783,979 (GRCm38) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,515,700 (GRCm38) |
L572Q |
probably damaging |
Het |
| Espl1 |
G |
A |
15: 102,304,039 (GRCm38) |
A527T |
probably benign |
Het |
| Fam83d |
A |
G |
2: 158,785,174 (GRCm38) |
D261G |
probably damaging |
Het |
| Fbxo34 |
T |
C |
14: 47,530,586 (GRCm38) |
F468L |
probably damaging |
Het |
| Gabarapl1 |
A |
T |
6: 129,533,405 (GRCm38) |
|
probably benign |
Het |
| Galnt17 |
G |
T |
5: 131,111,742 (GRCm38) |
T179K |
probably damaging |
Het |
| Gm6899 |
C |
T |
11: 26,593,685 (GRCm38) |
|
probably benign |
Het |
| Helz2 |
T |
A |
2: 181,231,128 (GRCm38) |
R2433W |
probably damaging |
Het |
| Hivep3 |
T |
C |
4: 119,814,723 (GRCm38) |
|
probably benign |
Het |
| Hsh2d |
G |
A |
8: 72,200,460 (GRCm38) |
D229N |
probably benign |
Het |
| Ica1 |
A |
G |
6: 8,672,326 (GRCm38) |
L225P |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,694,583 (GRCm38) |
I195T |
probably benign |
Het |
| Isyna1 |
C |
A |
8: 70,595,201 (GRCm38) |
N115K |
probably benign |
Het |
| Ly6g6e |
T |
C |
17: 35,078,008 (GRCm38) |
F75S |
probably benign |
Het |
| Ly96 |
A |
G |
1: 16,700,894 (GRCm38) |
D101G |
possibly damaging |
Het |
| Mapk9 |
A |
G |
11: 49,878,269 (GRCm38) |
T243A |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,759,403 (GRCm38) |
V48A |
probably benign |
Het |
| Mcpt2 |
C |
T |
14: 56,043,945 (GRCm38) |
|
probably benign |
Het |
| Med24 |
T |
C |
11: 98,717,757 (GRCm38) |
|
probably benign |
Het |
| Mtbp |
G |
A |
15: 55,564,671 (GRCm38) |
G162S |
probably null |
Het |
| Mtfr2 |
G |
A |
10: 20,352,852 (GRCm38) |
C48Y |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,161,981 (GRCm38) |
A516T |
possibly damaging |
Het |
| Naip2 |
AGGG |
AGG |
13: 100,162,037 (GRCm38) |
|
probably null |
Het |
| Ncoa4-ps |
A |
C |
12: 119,261,471 (GRCm38) |
|
noncoding transcript |
Het |
| Nup107 |
A |
C |
10: 117,777,146 (GRCm38) |
Y292* |
probably null |
Het |
| Nwd2 |
C |
T |
5: 63,650,024 (GRCm38) |
|
probably benign |
Het |
| Nxpe4 |
A |
C |
9: 48,393,392 (GRCm38) |
N260H |
probably benign |
Het |
| Ofcc1 |
C |
T |
13: 40,208,829 (GRCm38) |
G206R |
probably benign |
Het |
| Olfr911-ps1 |
T |
C |
9: 38,524,157 (GRCm38) |
S142P |
probably damaging |
Het |
| Or6z7 |
T |
C |
7: 6,480,542 (GRCm38) |
I205V |
probably benign |
Het |
| Or8b42 |
T |
C |
9: 38,431,101 (GRCm38) |
V273A |
possibly damaging |
Het |
| Or8k37 |
A |
T |
2: 86,639,463 (GRCm38) |
L82M |
probably damaging |
Het |
| P2rx7 |
T |
C |
5: 122,670,451 (GRCm38) |
Y299H |
probably damaging |
Het |
| Per3 |
T |
A |
4: 151,026,138 (GRCm38) |
E401V |
probably damaging |
Het |
| Rbm34 |
C |
A |
8: 126,965,447 (GRCm38) |
E182* |
probably null |
Het |
| Sdk2 |
C |
T |
11: 113,838,646 (GRCm38) |
|
silent |
Het |
| Senp2 |
T |
C |
16: 22,011,504 (GRCm38) |
S38P |
probably damaging |
Het |
| Slc36a2 |
A |
T |
11: 55,164,231 (GRCm38) |
|
probably null |
Het |
| Spred1 |
A |
T |
2: 117,177,697 (GRCm38) |
R361S |
possibly damaging |
Het |
| Spry2 |
A |
G |
14: 105,892,907 (GRCm38) |
C282R |
probably damaging |
Het |
| Srp54b |
T |
C |
12: 55,255,528 (GRCm38) |
|
probably benign |
Het |
| Taar8c |
G |
C |
10: 24,101,565 (GRCm38) |
Y116* |
probably null |
Het |
| Tex15 |
A |
G |
8: 33,571,633 (GRCm38) |
M364V |
probably benign |
Het |
| Ttbk1 |
T |
C |
17: 46,467,131 (GRCm38) |
R662G |
probably damaging |
Het |
| Ttc5 |
G |
A |
14: 50,767,226 (GRCm38) |
Q374* |
probably null |
Het |
| Usp46 |
C |
T |
5: 74,002,122 (GRCm38) |
A312T |
probably benign |
Het |
| Vmn1r176 |
A |
T |
7: 23,835,626 (GRCm38) |
L34Q |
probably damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,893,892 (GRCm38) |
R122* |
probably null |
Het |
| Vmn2r6 |
T |
A |
3: 64,565,067 (GRCm38) |
M78L |
probably benign |
Het |
| Zfp407 |
A |
T |
18: 84,209,448 (GRCm38) |
I2012N |
probably benign |
Het |
| Zfp980 |
G |
A |
4: 145,702,083 (GRCm38) |
G461S |
probably benign |
Het |
| Zfyve26 |
G |
A |
12: 79,263,949 (GRCm38) |
L161F |
probably damaging |
Het |
|
| Other mutations in Tchh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Tchh
|
APN |
3 |
93,445,299 (GRCm38) |
missense |
unknown |
|
|
IGL00338:Tchh
|
APN |
3 |
93,447,644 (GRCm38) |
missense |
unknown |
|
|
IGL00541:Tchh
|
APN |
3 |
93,446,250 (GRCm38) |
missense |
unknown |
|
|
IGL02510:Tchh
|
APN |
3 |
93,444,078 (GRCm38) |
missense |
unknown |
|
|
IGL02622:Tchh
|
APN |
3 |
93,443,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03164:Tchh
|
APN |
3 |
93,445,392 (GRCm38) |
missense |
unknown |
|
|
IGL03331:Tchh
|
APN |
3 |
93,443,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Tchh
|
UTSW |
3 |
93,445,880 (GRCm38) |
missense |
unknown |
|
|
R0334:Tchh
|
UTSW |
3 |
93,445,616 (GRCm38) |
missense |
unknown |
|
|
R0603:Tchh
|
UTSW |
3 |
93,443,781 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1241:Tchh
|
UTSW |
3 |
93,444,972 (GRCm38) |
missense |
unknown |
|
|
R1610:Tchh
|
UTSW |
3 |
93,444,839 (GRCm38) |
missense |
unknown |
|
|
R1768:Tchh
|
UTSW |
3 |
93,443,575 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1843:Tchh
|
UTSW |
3 |
93,446,780 (GRCm38) |
missense |
unknown |
|
|
R1866:Tchh
|
UTSW |
3 |
93,447,760 (GRCm38) |
missense |
unknown |
|
|
R1978:Tchh
|
UTSW |
3 |
93,446,799 (GRCm38) |
missense |
unknown |
|
|
R2008:Tchh
|
UTSW |
3 |
93,445,974 (GRCm38) |
missense |
unknown |
|
|
R2011:Tchh
|
UTSW |
3 |
93,446,961 (GRCm38) |
missense |
unknown |
|
|
R2087:Tchh
|
UTSW |
3 |
93,443,918 (GRCm38) |
missense |
unknown |
|
|
R2177:Tchh
|
UTSW |
3 |
93,444,132 (GRCm38) |
missense |
unknown |
|
|
R2292:Tchh
|
UTSW |
3 |
93,442,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2418:Tchh
|
UTSW |
3 |
93,445,629 (GRCm38) |
missense |
unknown |
|
|
R2877:Tchh
|
UTSW |
3 |
93,444,228 (GRCm38) |
missense |
unknown |
|
|
R2995:Tchh
|
UTSW |
3 |
93,447,750 (GRCm38) |
small deletion |
probably benign |
|
|
R2997:Tchh
|
UTSW |
3 |
93,447,750 (GRCm38) |
small deletion |
probably benign |
|
|
R3439:Tchh
|
UTSW |
3 |
93,447,393 (GRCm38) |
missense |
unknown |
|
|
R3440:Tchh
|
UTSW |
3 |
93,445,107 (GRCm38) |
missense |
unknown |
|
|
R3441:Tchh
|
UTSW |
3 |
93,445,107 (GRCm38) |
missense |
unknown |
|
|
R4063:Tchh
|
UTSW |
3 |
93,446,991 (GRCm38) |
missense |
unknown |
|
|
R4550:Tchh
|
UTSW |
3 |
93,445,310 (GRCm38) |
missense |
unknown |
|
|
R4720:Tchh
|
UTSW |
3 |
93,447,882 (GRCm38) |
missense |
unknown |
|
|
R4836:Tchh
|
UTSW |
3 |
93,447,588 (GRCm38) |
missense |
unknown |
|
|
R4836:Tchh
|
UTSW |
3 |
93,445,148 (GRCm38) |
missense |
unknown |
|
|
R4880:Tchh
|
UTSW |
3 |
93,443,823 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4895:Tchh
|
UTSW |
3 |
93,445,686 (GRCm38) |
missense |
unknown |
|
|
R5188:Tchh
|
UTSW |
3 |
93,446,679 (GRCm38) |
missense |
unknown |
|
|
R5404:Tchh
|
UTSW |
3 |
93,447,675 (GRCm38) |
missense |
unknown |
|
|
R5435:Tchh
|
UTSW |
3 |
93,443,672 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5578:Tchh
|
UTSW |
3 |
93,444,311 (GRCm38) |
nonsense |
probably null |
|
|
R5678:Tchh
|
UTSW |
3 |
93,445,626 (GRCm38) |
missense |
unknown |
|
|
R5697:Tchh
|
UTSW |
3 |
93,445,043 (GRCm38) |
nonsense |
probably null |
|
|
R5768:Tchh
|
UTSW |
3 |
93,446,181 (GRCm38) |
missense |
unknown |
|
|
R5809:Tchh
|
UTSW |
3 |
93,445,573 (GRCm38) |
missense |
unknown |
|
|
R5934:Tchh
|
UTSW |
3 |
93,444,112 (GRCm38) |
missense |
unknown |
|
|
R5945:Tchh
|
UTSW |
3 |
93,445,337 (GRCm38) |
missense |
unknown |
|
|
R6313:Tchh
|
UTSW |
3 |
93,447,851 (GRCm38) |
missense |
unknown |
|
|
R6329:Tchh
|
UTSW |
3 |
93,446,445 (GRCm38) |
missense |
unknown |
|
|
R6397:Tchh
|
UTSW |
3 |
93,445,866 (GRCm38) |
missense |
unknown |
|
|
R6818:Tchh
|
UTSW |
3 |
93,443,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6997:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R7174:Tchh
|
UTSW |
3 |
93,446,171 (GRCm38) |
missense |
unknown |
|
|
R7268:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R7270:Tchh
|
UTSW |
3 |
93,444,530 (GRCm38) |
missense |
unknown |
|
|
R7449:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R7745:Tchh
|
UTSW |
3 |
93,444,777 (GRCm38) |
missense |
unknown |
|
|
R8201:Tchh
|
UTSW |
3 |
93,443,474 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8375:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R8438:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R8676:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R8801:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R8893:Tchh
|
UTSW |
3 |
93,447,650 (GRCm38) |
nonsense |
probably null |
|
|
R9104:Tchh
|
UTSW |
3 |
93,447,303 (GRCm38) |
missense |
unknown |
|
|
R9318:Tchh
|
UTSW |
3 |
93,446,744 (GRCm38) |
missense |
unknown |
|
|
R9328:Tchh
|
UTSW |
3 |
93,444,263 (GRCm38) |
missense |
unknown |
|
|
R9386:Tchh
|
UTSW |
3 |
93,447,039 (GRCm38) |
missense |
unknown |
|
|
R9499:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R9553:Tchh
|
UTSW |
3 |
93,447,818 (GRCm38) |
nonsense |
probably null |
|
|
R9644:Tchh
|
UTSW |
3 |
93,447,359 (GRCm38) |
missense |
unknown |
|
|
Z1088:Tchh
|
UTSW |
3 |
93,445,682 (GRCm38) |
nonsense |
probably null |
|
|
Z1176:Tchh
|
UTSW |
3 |
93,446,859 (GRCm38) |
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