Incidental Mutation 'R9644:Tchh'
| ID |
726123 |
| 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 # |
R9644 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93349637-93356384 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93354666 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 1369
(C1369R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064257]
|
| AlphaFold |
A0A0B4J1F9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000064257
AA Change: C1369R
|
| SMART Domains |
Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: C1369R
| 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 |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot7 |
C |
A |
4: 152,270,752 (GRCm39) |
S32* |
probably null |
Het |
| Adam34 |
T |
A |
8: 44,104,766 (GRCm39) |
H293L |
probably damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,872,036 (GRCm39) |
N910S |
probably damaging |
Het |
| Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
| Ankrd36 |
A |
G |
11: 5,593,835 (GRCm39) |
D480G |
possibly damaging |
Het |
| Aox4 |
T |
A |
1: 58,267,278 (GRCm39) |
D185E |
probably benign |
Het |
| Apol8 |
C |
A |
15: 77,633,695 (GRCm39) |
V294L |
probably damaging |
Het |
| Arsk |
G |
A |
13: 76,220,227 (GRCm39) |
A289V |
probably damaging |
Het |
| Atg101 |
A |
G |
15: 101,188,447 (GRCm39) |
D184G |
probably benign |
Het |
| Atp10b |
C |
T |
11: 43,042,659 (GRCm39) |
T73I |
probably damaging |
Het |
| Ccn4 |
T |
G |
15: 66,784,785 (GRCm39) |
C153G |
|
Het |
| Ccser2 |
A |
T |
14: 36,601,150 (GRCm39) |
N411K |
possibly damaging |
Het |
| Cct5 |
A |
G |
15: 31,601,845 (GRCm39) |
S3P |
probably benign |
Het |
| Chn1 |
A |
T |
2: 73,490,184 (GRCm39) |
I31K |
probably benign |
Het |
| Clec2e |
T |
A |
6: 129,070,443 (GRCm39) |
I193L |
probably benign |
Het |
| Crim1 |
G |
A |
17: 78,587,497 (GRCm39) |
G201R |
probably damaging |
Het |
| Ctrc |
A |
G |
4: 141,572,336 (GRCm39) |
V68A |
probably damaging |
Het |
| Dennd4c |
T |
A |
4: 86,713,363 (GRCm39) |
I438N |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,230,650 (GRCm39) |
W183R |
probably damaging |
Het |
| Dnali1 |
T |
A |
4: 124,950,402 (GRCm39) |
I253F |
probably damaging |
Het |
| Dyrk1b |
T |
C |
7: 27,881,790 (GRCm39) |
L83P |
probably damaging |
Het |
| Emx2 |
T |
C |
19: 59,452,427 (GRCm39) |
I237T |
probably benign |
Het |
| Enpp3 |
C |
T |
10: 24,685,801 (GRCm39) |
R198K |
probably damaging |
Het |
| Epb41l1 |
C |
T |
2: 156,367,165 (GRCm39) |
P678L |
possibly damaging |
Het |
| Epm2aip1 |
C |
T |
9: 111,102,137 (GRCm39) |
T370I |
probably damaging |
Het |
| Fam184a |
T |
G |
10: 53,573,342 (GRCm39) |
Q346P |
probably damaging |
Het |
| Foxi2 |
A |
C |
7: 135,013,727 (GRCm39) |
H319P |
possibly damaging |
Het |
| Gatad1 |
A |
G |
5: 3,691,442 (GRCm39) |
V250A |
possibly damaging |
Het |
| Gmeb1 |
T |
C |
4: 131,959,440 (GRCm39) |
I205V |
probably benign |
Het |
| Gucy2g |
C |
G |
19: 55,219,537 (GRCm39) |
V362L |
probably benign |
Het |
| Hace1 |
T |
C |
10: 45,526,001 (GRCm39) |
S281P |
probably benign |
Het |
| Helz |
C |
A |
11: 107,563,687 (GRCm39) |
A1709D |
unknown |
Het |
| Igf2bp2 |
T |
A |
16: 21,902,735 (GRCm39) |
N115Y |
probably damaging |
Het |
| Igkv4-86 |
C |
T |
6: 68,887,593 (GRCm39) |
V49I |
probably benign |
Het |
| Kdm2b |
A |
T |
5: 123,120,842 (GRCm39) |
V101E |
probably damaging |
Het |
| Kidins220 |
A |
G |
12: 25,061,018 (GRCm39) |
D790G |
probably damaging |
Het |
| Kif18a |
A |
G |
2: 109,171,517 (GRCm39) |
T865A |
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,375,836 (GRCm39) |
V10A |
probably damaging |
Het |
| Kmt2d |
A |
T |
15: 98,743,385 (GRCm39) |
M3925K |
unknown |
Het |
| Mcee |
G |
T |
7: 64,061,730 (GRCm39) |
A178S |
possibly damaging |
Het |
| Megf10 |
A |
T |
18: 57,375,773 (GRCm39) |
H233L |
probably benign |
Het |
| Meox1 |
T |
A |
11: 101,769,482 (GRCm39) |
E238V |
probably benign |
Het |
| Myo5a |
G |
A |
9: 75,043,631 (GRCm39) |
G207R |
probably damaging |
Het |
| Nemf |
T |
A |
12: 69,359,436 (GRCm39) |
N966I |
possibly damaging |
Het |
| Or10q3 |
T |
C |
19: 11,848,574 (GRCm39) |
E2G |
probably benign |
Het |
| Or1j14 |
A |
T |
2: 36,417,777 (GRCm39) |
M118L |
probably damaging |
Het |
| Or5b123 |
G |
T |
19: 13,597,344 (GRCm39) |
A230S |
probably benign |
Het |
| Or6c204 |
A |
G |
10: 129,022,738 (GRCm39) |
I184T |
possibly damaging |
Het |
| Pfas |
T |
C |
11: 68,883,542 (GRCm39) |
Q662R |
probably benign |
Het |
| Phf2 |
G |
T |
13: 49,024,218 (GRCm39) |
C8* |
probably null |
Het |
| Pkhd1 |
T |
A |
1: 20,617,690 (GRCm39) |
N965I |
probably benign |
Het |
| Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
| Prb1b |
T |
A |
6: 132,289,218 (GRCm39) |
Q202L |
unknown |
Het |
| Prdm8 |
A |
T |
5: 98,333,638 (GRCm39) |
T402S |
probably benign |
Het |
| Proz |
T |
A |
8: 13,116,854 (GRCm39) |
D135E |
probably benign |
Het |
| Prtg |
T |
A |
9: 72,813,493 (GRCm39) |
I951K |
probably damaging |
Het |
| Rasgef1b |
A |
T |
5: 99,380,014 (GRCm39) |
Y288* |
probably null |
Het |
| Sacs |
T |
A |
14: 61,443,428 (GRCm39) |
C1825S |
probably benign |
Het |
| Slc22a12 |
G |
C |
19: 6,587,673 (GRCm39) |
P427R |
probably damaging |
Het |
| Slfn3 |
A |
G |
11: 83,105,728 (GRCm39) |
Y575C |
probably damaging |
Het |
| St18 |
C |
T |
1: 6,929,276 (GRCm39) |
T56I |
|
Het |
| Synrg |
T |
C |
11: 83,910,696 (GRCm39) |
L876S |
probably damaging |
Het |
| Tet2 |
G |
A |
3: 133,193,064 (GRCm39) |
Q457* |
probably null |
Het |
| Thap12 |
T |
C |
7: 98,364,495 (GRCm39) |
V221A |
probably damaging |
Het |
| Tor3a |
T |
A |
1: 156,501,126 (GRCm39) |
D104V |
probably damaging |
Het |
| Trpc2 |
T |
C |
7: 101,744,439 (GRCm39) |
V737A |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,129,699 (GRCm39) |
Y155C |
probably damaging |
Het |
| Tspyl1 |
T |
C |
10: 34,159,135 (GRCm39) |
S287P |
possibly damaging |
Het |
| Ube2u |
TAGAAGAAGAAGAAGAAGAAGAAGAAGA |
TAGAAGAAGAAGAAGAAGAAGAAGA |
4: 100,406,943 (GRCm39) |
|
probably benign |
Het |
| Ubr2 |
A |
G |
17: 47,266,706 (GRCm39) |
|
probably null |
Het |
| Vmn1r238 |
T |
A |
18: 3,122,635 (GRCm39) |
T260S |
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 |
|
|
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 |
|
|
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'- AAGAGCTCGGCCAAGAACTG -3'
(R):5'- TCGCGGAATCTTCTGTTGTC -3'
Sequencing Primer
(F):5'- CTGGAGGAAGAGCGGCTG -3'
(R):5'- TGTTGTCACGCTCCTGGAGAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation