Incidental Mutation 'R9104:Tchh'
ID |
691873 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tchh
|
Ensembl Gene |
ENSMUSG00000052415 |
Gene Name |
trichohyalin |
Synonyms |
AHF, Thh |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R9104 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
93349637-93356384 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 93354610 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 1350
(H1350L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064257]
|
AlphaFold |
A0A0B4J1F9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000064257
AA Change: H1350L
|
SMART Domains |
Protein: ENSMUSP00000069525 Gene: ENSMUSG00000052415 AA Change: H1350L
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: 98.9%
|
Validation Efficiency |
100% (69/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
A |
T |
8: 44,023,108 (GRCm39) |
N127K |
probably damaging |
Het |
Adgrl3 |
C |
T |
5: 81,457,912 (GRCm39) |
A14V |
probably benign |
Het |
Adra2b |
A |
G |
2: 127,205,858 (GRCm39) |
Y125C |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,987,711 (GRCm39) |
H2998Q |
probably benign |
Het |
B3galt1 |
C |
A |
2: 67,948,406 (GRCm39) |
H40Q |
probably benign |
Het |
Best3 |
T |
G |
10: 116,860,680 (GRCm39) |
L647V |
probably benign |
Het |
Brip1 |
T |
A |
11: 86,077,897 (GRCm39) |
E177V |
possibly damaging |
Het |
C1qtnf6 |
T |
C |
15: 78,409,109 (GRCm39) |
D246G |
probably benign |
Het |
C4b |
G |
A |
17: 34,948,233 (GRCm39) |
T1622M |
probably benign |
Het |
Catip |
G |
A |
1: 74,401,682 (GRCm39) |
|
probably null |
Het |
Ccdc138 |
T |
C |
10: 58,348,982 (GRCm39) |
V176A |
probably benign |
Het |
Ccdc85a |
T |
C |
11: 28,526,879 (GRCm39) |
H243R |
probably damaging |
Het |
Cep19 |
C |
T |
16: 31,925,883 (GRCm39) |
T97M |
probably damaging |
Het |
Copz2 |
G |
A |
11: 96,747,514 (GRCm39) |
D166N |
possibly damaging |
Het |
Dedd |
C |
T |
1: 171,168,572 (GRCm39) |
L253F |
probably damaging |
Het |
Dennd5a |
A |
G |
7: 109,497,713 (GRCm39) |
|
probably null |
Het |
Dpp10 |
A |
T |
1: 123,339,484 (GRCm39) |
S348T |
probably damaging |
Het |
Eci3 |
A |
G |
13: 35,144,382 (GRCm39) |
|
probably null |
Het |
Egr4 |
A |
G |
6: 85,490,337 (GRCm39) |
S15P |
probably benign |
Het |
Elp6 |
A |
G |
9: 110,134,397 (GRCm39) |
T12A |
probably benign |
Het |
Ewsr1 |
G |
T |
11: 5,041,367 (GRCm39) |
P113T |
unknown |
Het |
Exosc10 |
T |
G |
4: 148,664,859 (GRCm39) |
L789R |
probably benign |
Het |
Flt4 |
A |
G |
11: 49,525,161 (GRCm39) |
Y669C |
probably damaging |
Het |
Foxred2 |
A |
T |
15: 77,836,517 (GRCm39) |
F333I |
probably damaging |
Het |
Frs2 |
G |
T |
10: 116,910,070 (GRCm39) |
H431N |
probably benign |
Het |
Gm10800 |
AAGAAAACTGAAAATCAT |
A |
2: 98,497,379 (GRCm39) |
|
probably benign |
Het |
Gm19410 |
T |
C |
8: 36,247,621 (GRCm39) |
Y478H |
probably damaging |
Het |
Gm3629 |
G |
A |
14: 17,834,542 (GRCm39) |
R150C |
|
Het |
Grik4 |
A |
C |
9: 42,571,168 (GRCm39) |
L179R |
probably damaging |
Het |
Gsdmc3 |
C |
T |
15: 63,730,941 (GRCm39) |
|
probably null |
Het |
Il20ra |
T |
A |
10: 19,635,364 (GRCm39) |
M535K |
probably benign |
Het |
Il9 |
A |
G |
13: 56,628,401 (GRCm39) |
V96A |
possibly damaging |
Het |
Itgal |
A |
G |
7: 126,910,794 (GRCm39) |
D592G |
probably damaging |
Het |
Klk1b11 |
C |
T |
7: 43,427,875 (GRCm39) |
|
probably benign |
Het |
Klk1b27 |
G |
A |
7: 43,705,310 (GRCm39) |
W159* |
probably null |
Het |
Mapk9 |
T |
C |
11: 49,760,000 (GRCm39) |
Y105H |
probably damaging |
Het |
Mmp7 |
A |
G |
9: 7,697,947 (GRCm39) |
|
probably benign |
Het |
Muc2 |
T |
C |
7: 141,286,224 (GRCm39) |
I118T |
probably damaging |
Het |
N4bp2l2 |
T |
C |
5: 150,566,724 (GRCm39) |
N131D |
unknown |
Het |
Nbea |
A |
C |
3: 55,862,809 (GRCm39) |
S1814R |
probably benign |
Het |
Nlrp9c |
G |
T |
7: 26,081,837 (GRCm39) |
L630I |
probably benign |
Het |
Or1j8 |
T |
C |
2: 36,191,956 (GRCm39) |
V135A |
|
Het |
Or6c76 |
T |
C |
10: 129,612,521 (GRCm39) |
V261A |
probably damaging |
Het |
Or8g27 |
G |
A |
9: 39,128,831 (GRCm39) |
M59I |
probably damaging |
Het |
Pbx3 |
C |
A |
2: 34,114,629 (GRCm39) |
D102Y |
probably damaging |
Het |
Pdia6 |
G |
A |
12: 17,320,492 (GRCm39) |
V44I |
probably benign |
Het |
Pkdcc |
G |
A |
17: 83,528,471 (GRCm39) |
R280H |
probably damaging |
Het |
Ppm1h |
A |
G |
10: 122,638,264 (GRCm39) |
E178G |
probably benign |
Het |
Prom1 |
C |
T |
5: 44,172,161 (GRCm39) |
S619N |
probably benign |
Het |
Prtg |
A |
C |
9: 72,755,607 (GRCm39) |
I270L |
probably damaging |
Het |
Rfx6 |
A |
T |
10: 51,599,106 (GRCm39) |
H487L |
probably damaging |
Het |
Rpl18a |
A |
C |
8: 71,348,788 (GRCm39) |
Y63D |
probably benign |
Het |
Rtl1 |
T |
A |
12: 109,560,718 (GRCm39) |
M374L |
probably benign |
Het |
Scaper |
A |
G |
9: 55,819,400 (GRCm39) |
L105P |
unknown |
Het |
Slc16a13 |
T |
A |
11: 70,111,530 (GRCm39) |
|
probably benign |
Het |
Slc6a13 |
A |
G |
6: 121,313,044 (GRCm39) |
K487R |
probably benign |
Het |
Slc7a11 |
T |
A |
3: 50,332,082 (GRCm39) |
T459S |
probably benign |
Het |
Smarcad1 |
A |
G |
6: 65,075,649 (GRCm39) |
Q708R |
probably benign |
Het |
Stat2 |
T |
C |
10: 128,117,111 (GRCm39) |
|
probably null |
Het |
Syde1 |
T |
C |
10: 78,421,670 (GRCm39) |
H627R |
probably benign |
Het |
Tas2r113 |
G |
A |
6: 132,870,116 (GRCm39) |
R48H |
probably benign |
Het |
Tbc1d16 |
T |
C |
11: 119,038,626 (GRCm39) |
Y690C |
probably damaging |
Het |
Tex15 |
T |
A |
8: 34,060,950 (GRCm39) |
Y127N |
possibly damaging |
Het |
Thsd4 |
T |
C |
9: 59,964,179 (GRCm39) |
T438A |
possibly damaging |
Het |
Tubg1 |
A |
G |
11: 101,015,099 (GRCm39) |
D216G |
probably benign |
Het |
Tyk2 |
T |
C |
9: 21,026,762 (GRCm39) |
D642G |
possibly damaging |
Het |
Uqcc1 |
C |
T |
2: 155,743,217 (GRCm39) |
|
probably null |
Het |
Uvssa |
A |
C |
5: 33,571,404 (GRCm39) |
K683Q |
probably damaging |
Het |
Vmn1r59 |
A |
T |
7: 5,457,166 (GRCm39) |
M198K |
probably benign |
Het |
Zfp772 |
T |
A |
7: 7,207,190 (GRCm39) |
H167L |
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 |
|
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 |
|
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'- AAGAGCTCGACCAAGAACTG -3'
(R):5'- CGAAGCTCTTCTTCCTCAAGG -3'
Sequencing Primer
(F):5'- CTCCGCAGAGAGCAAGAGC -3'
(R):5'- AAGGACTCTTCTGTCGCGC -3'
|
Posted On |
2021-12-30 |