Incidental Mutation 'R6818:Tchh'
| ID |
537415 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tchh
|
| Ensembl Gene |
ENSMUSG00000052415 |
| Gene Name |
trichohyalin |
| Synonyms |
AHF, Thh |
| MMRRC Submission |
044930-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.055)
|
| Stock # |
R6818 (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 G
at 93350718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 53
(T53A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064257]
|
| AlphaFold |
A0A0B4J1F9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000064257
AA Change: T53A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: T53A
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
97% (59/61) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,865,089 (GRCm39) |
|
probably null |
Het |
| Acot4 |
A |
C |
12: 84,088,783 (GRCm39) |
E210D |
probably damaging |
Het |
| Adamts9 |
A |
C |
6: 92,882,172 (GRCm39) |
S476A |
probably damaging |
Het |
| Ajm1 |
C |
CTCTA |
2: 25,469,733 (GRCm39) |
|
probably null |
Het |
| Ak1 |
T |
A |
2: 32,520,385 (GRCm39) |
M61K |
probably damaging |
Het |
| Ambp |
G |
T |
4: 63,072,243 (GRCm39) |
S17* |
probably null |
Het |
| Anxa6 |
T |
A |
11: 54,870,326 (GRCm39) |
M662L |
probably benign |
Het |
| Atp11b |
T |
C |
3: 35,868,329 (GRCm39) |
I467T |
possibly damaging |
Het |
| B3gat1 |
G |
T |
9: 26,662,998 (GRCm39) |
|
probably benign |
Het |
| Bccip |
T |
G |
7: 133,319,488 (GRCm39) |
I193S |
probably damaging |
Het |
| Ccdc170 |
A |
G |
10: 4,491,782 (GRCm39) |
E401G |
probably damaging |
Het |
| Cldn16 |
A |
G |
16: 26,296,257 (GRCm39) |
T78A |
probably damaging |
Het |
| Cldn24 |
G |
T |
8: 48,275,757 (GRCm39) |
A194S |
probably benign |
Het |
| Cltc |
A |
G |
11: 86,595,054 (GRCm39) |
V1348A |
possibly damaging |
Het |
| Clvs1 |
T |
C |
4: 9,282,014 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 16,235,341 (GRCm39) |
D1161N |
probably damaging |
Het |
| Cuzd1 |
A |
G |
7: 130,918,394 (GRCm39) |
V181A |
probably damaging |
Het |
| Dhx30 |
A |
G |
9: 109,917,099 (GRCm39) |
I435T |
probably damaging |
Het |
| Dip2b |
T |
C |
15: 100,091,835 (GRCm39) |
V858A |
probably benign |
Het |
| Dnmt3b |
C |
T |
2: 153,528,204 (GRCm39) |
T822M |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,593,082 (GRCm39) |
F97I |
possibly damaging |
Het |
| Dock8 |
T |
C |
19: 25,146,865 (GRCm39) |
|
probably null |
Het |
| Dvl2 |
T |
C |
11: 69,900,099 (GRCm39) |
L631P |
probably damaging |
Het |
| Faf2 |
T |
A |
13: 54,789,419 (GRCm39) |
|
probably null |
Het |
| Fat2 |
T |
A |
11: 55,200,167 (GRCm39) |
H969L |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,815,544 (GRCm39) |
V3759E |
probably benign |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Gm973 |
T |
C |
1: 59,669,328 (GRCm39) |
L793P |
probably damaging |
Het |
| H2-M1 |
A |
G |
17: 36,981,327 (GRCm39) |
I236T |
probably damaging |
Het |
| Hif1a |
A |
T |
12: 73,992,337 (GRCm39) |
R765* |
probably null |
Het |
| Htt |
A |
G |
5: 34,940,111 (GRCm39) |
K77E |
probably damaging |
Het |
| Ift172 |
G |
T |
5: 31,423,304 (GRCm39) |
Q826K |
probably benign |
Het |
| Inafm1 |
C |
T |
7: 16,007,086 (GRCm39) |
A44T |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,748 (GRCm39) |
T240A |
probably damaging |
Het |
| Klk1 |
A |
T |
7: 43,878,883 (GRCm39) |
I124F |
probably damaging |
Het |
| Krbox5 |
A |
G |
13: 67,981,986 (GRCm39) |
Q66R |
possibly damaging |
Het |
| Kremen1 |
T |
C |
11: 5,145,051 (GRCm39) |
T442A |
probably benign |
Het |
| Mei4 |
T |
A |
9: 81,907,574 (GRCm39) |
D202E |
probably benign |
Het |
| Mest |
T |
A |
6: 30,746,286 (GRCm39) |
D284E |
probably damaging |
Het |
| Nsfl1c |
T |
A |
2: 151,344,940 (GRCm39) |
Y95* |
probably null |
Het |
| Or10al5 |
T |
A |
17: 38,063,315 (GRCm39) |
V190D |
possibly damaging |
Het |
| Or10am5 |
T |
C |
7: 6,517,550 (GRCm39) |
M293V |
probably damaging |
Het |
| Or2ak4 |
T |
A |
11: 58,648,783 (GRCm39) |
C97* |
probably null |
Het |
| Or4k38 |
T |
G |
2: 111,165,659 (GRCm39) |
I255L |
probably benign |
Het |
| Pgm1 |
T |
A |
4: 99,820,763 (GRCm39) |
I220N |
probably damaging |
Het |
| Pirt |
T |
A |
11: 66,816,719 (GRCm39) |
V10E |
possibly damaging |
Het |
| Prl7d1 |
C |
A |
13: 27,898,454 (GRCm39) |
M19I |
probably benign |
Het |
| Samhd1 |
T |
C |
2: 156,949,417 (GRCm39) |
N490D |
probably benign |
Het |
| Scn2a |
C |
A |
2: 65,519,013 (GRCm39) |
S413* |
probably null |
Het |
| Serpinb6e |
A |
T |
13: 34,016,337 (GRCm39) |
|
probably null |
Het |
| Slitrk5 |
A |
G |
14: 111,917,726 (GRCm39) |
D450G |
probably benign |
Het |
| Tmem44 |
A |
T |
16: 30,362,039 (GRCm39) |
|
probably null |
Het |
| Tpm3-rs7 |
A |
G |
14: 113,552,448 (GRCm39) |
E114G |
possibly damaging |
Het |
| Treml2 |
A |
G |
17: 48,609,925 (GRCm39) |
Y119C |
probably damaging |
Het |
| Ubxn1 |
T |
A |
19: 8,851,245 (GRCm39) |
|
probably null |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,147 (GRCm39) |
M691K |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 19,168,193 (GRCm39) |
I816F |
possibly damaging |
Het |
| Was |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC |
X: 7,952,450 (GRCm39) |
|
probably benign |
Het |
| Wfdc2 |
T |
C |
2: 164,405,070 (GRCm39) |
|
probably null |
Het |
| Zscan4-ps3 |
T |
C |
7: 11,346,986 (GRCm39) |
S341P |
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 |
|
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 |
|
|
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'- TTCCATAGCTGGGGAAACAG -3'
(R):5'- ACAGGTTCCTCTTTTCATTGGG -3'
Sequencing Primer
(F):5'- ATGTGAGTACACTGTCGATCC -3'
(R):5'- CATTGGGCAGGGCTCTCTTC -3'
|
| Posted On |
2018-10-18 |
Incidental Mutation