Incidental Mutation 'R8438:Tchh'
| ID |
654085 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tchh
|
| Ensembl Gene |
ENSMUSG00000052415 |
| Gene Name |
trichohyalin |
| Synonyms |
AHF, Thh |
| MMRRC Submission |
067778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R8438 (G1)
|
| Quality Score |
135.474 |
|
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: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406C07Rik |
C |
T |
9: 15,201,962 (GRCm39) |
|
probably null |
Het |
| 5730480H06Rik |
A |
T |
5: 48,534,425 (GRCm39) |
H95L |
probably damaging |
Het |
| Abca8a |
A |
G |
11: 109,966,404 (GRCm39) |
Y410H |
probably damaging |
Het |
| Abcb4 |
G |
A |
5: 8,996,120 (GRCm39) |
|
probably null |
Het |
| Adam8 |
C |
T |
7: 139,565,249 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
C |
T |
6: 90,536,428 (GRCm39) |
P111L |
probably damaging |
Het |
| Baz2b |
G |
T |
2: 59,747,828 (GRCm39) |
Y1278* |
probably null |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Casp9 |
C |
A |
4: 141,540,934 (GRCm39) |
T434N |
probably benign |
Het |
| Cd19 |
C |
A |
7: 126,013,515 (GRCm39) |
M91I |
possibly damaging |
Het |
| Celsr2 |
G |
A |
3: 108,301,139 (GRCm39) |
T2718M |
probably damaging |
Het |
| Clptm1 |
G |
T |
7: 19,379,776 (GRCm39) |
D153E |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,515,517 (GRCm39) |
G127S |
unknown |
Het |
| Col1a2 |
G |
T |
6: 4,515,518 (GRCm39) |
G127V |
unknown |
Het |
| Crybg3 |
A |
G |
16: 59,385,655 (GRCm39) |
S190P |
probably benign |
Het |
| Ddrgk1 |
G |
A |
2: 130,505,302 (GRCm39) |
|
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,746,150 (GRCm39) |
H402R |
probably benign |
Het |
| Dgat2 |
T |
C |
7: 98,806,207 (GRCm39) |
Y330C |
probably damaging |
Het |
| Dnah7b |
G |
A |
1: 46,227,839 (GRCm39) |
C1354Y |
probably damaging |
Het |
| Ecd |
T |
A |
14: 20,388,533 (GRCm39) |
I119L |
possibly damaging |
Het |
| Entpd1 |
A |
G |
19: 40,725,224 (GRCm39) |
K437E |
possibly damaging |
Het |
| Fcgbp |
C |
T |
7: 27,789,231 (GRCm39) |
A599V |
probably benign |
Het |
| Gtf3c1 |
G |
T |
7: 125,241,701 (GRCm39) |
S1999* |
probably null |
Het |
| Hesx1 |
C |
T |
14: 26,723,460 (GRCm39) |
R97C |
probably benign |
Het |
| Hmcn2 |
C |
A |
2: 31,281,088 (GRCm39) |
L1867I |
probably benign |
Het |
| Hoxb3 |
A |
G |
11: 96,236,609 (GRCm39) |
N229S |
probably benign |
Het |
| Itpk1 |
G |
A |
12: 102,572,418 (GRCm39) |
|
probably benign |
Het |
| Itprid1 |
C |
T |
6: 55,874,878 (GRCm39) |
S276L |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,289,153 (GRCm39) |
D549G |
probably benign |
Het |
| Mef2c |
A |
G |
13: 83,804,336 (GRCm39) |
E312G |
probably damaging |
Het |
| Morn5 |
A |
G |
2: 35,945,076 (GRCm39) |
K100R |
probably benign |
Het |
| Mphosph9 |
A |
T |
5: 124,430,455 (GRCm39) |
D610E |
probably benign |
Het |
| Obox6 |
G |
C |
7: 15,567,853 (GRCm39) |
A198G |
probably damaging |
Het |
| Or2t43 |
A |
T |
11: 58,457,665 (GRCm39) |
S169T |
possibly damaging |
Het |
| Or4a75 |
C |
T |
2: 89,448,054 (GRCm39) |
V161M |
possibly damaging |
Het |
| Or4a80 |
A |
T |
2: 89,583,061 (GRCm39) |
M37K |
probably damaging |
Het |
| Or6b13 |
C |
A |
7: 139,782,170 (GRCm39) |
C171F |
probably damaging |
Het |
| Pcdhgb2 |
A |
G |
18: 37,825,232 (GRCm39) |
N741S |
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,877,379 (GRCm39) |
N575D |
probably benign |
Het |
| Plxna4 |
C |
A |
6: 32,179,115 (GRCm39) |
G967W |
probably damaging |
Het |
| Ppp3cb |
C |
T |
14: 20,565,658 (GRCm39) |
M373I |
probably damaging |
Het |
| Sec14l2 |
C |
A |
11: 4,059,202 (GRCm39) |
E156* |
probably null |
Het |
| Srrt |
A |
T |
5: 137,301,262 (GRCm39) |
Y55N |
unknown |
Het |
| Thada |
G |
A |
17: 84,743,057 (GRCm39) |
T789I |
probably damaging |
Het |
| Top3b |
G |
T |
16: 16,709,364 (GRCm39) |
S684I |
probably benign |
Het |
| Trpc4 |
A |
G |
3: 54,129,674 (GRCm39) |
I147V |
possibly damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,454,363 (GRCm39) |
H219Q |
possibly damaging |
Het |
| Uck1 |
C |
A |
2: 32,150,153 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
T |
A |
6: 58,449,646 (GRCm39) |
D73V |
|
Het |
| Wasf3 |
A |
T |
5: 146,390,237 (GRCm39) |
Q127L |
probably benign |
Het |
| Xpo6 |
T |
C |
7: 125,760,054 (GRCm39) |
T182A |
possibly damaging |
Het |
| Xpo7 |
C |
A |
14: 70,940,672 (GRCm39) |
R139S |
probably benign |
Het |
| Zfp687 |
A |
T |
3: 94,915,433 (GRCm39) |
S1058T |
probably benign |
Het |
| Zfp786 |
T |
C |
6: 47,796,934 (GRCm39) |
E668G |
probably damaging |
Het |
| Zfp831 |
A |
T |
2: 174,486,796 (GRCm39) |
R490S |
possibly 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 |
|
|
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'- AACCGGACAGAAGATTCCGC -3'
(R):5'- TCACGGACTTTTCTGTCACG -3'
Sequencing Primer
(F):5'- CTGCGGGACAGTAAGATCC -3'
(R):5'- TGTCACGTTCCTGGCGC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation