Incidental Mutation 'R2877:Tchh'
ID |
260593 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tchh
|
Ensembl Gene |
ENSMUSG00000052415 |
Gene Name |
trichohyalin |
Synonyms |
AHF, Thh |
MMRRC Submission |
040465-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.055)
|
Stock # |
R2877 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
93349637-93356384 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93351535 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 325
(E325G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069525
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064257]
|
AlphaFold |
A0A0B4J1F9 |
Predicted Effect |
unknown
Transcript: ENSMUST00000064257
AA Change: E325G
|
SMART Domains |
Protein: ENSMUSP00000069525 Gene: ENSMUSG00000052415 AA Change: E325G
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 |
0.1077 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
96% (66/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930522L14Rik |
A |
C |
5: 109,886,811 (GRCm39) |
|
probably benign |
Het |
Abca13 |
C |
T |
11: 9,241,889 (GRCm39) |
L1251F |
possibly damaging |
Het |
Accsl |
A |
T |
2: 93,689,755 (GRCm39) |
M384K |
probably damaging |
Het |
Adss1 |
A |
C |
12: 112,600,623 (GRCm39) |
K197N |
probably damaging |
Het |
Alg11 |
A |
G |
8: 22,555,374 (GRCm39) |
N170D |
possibly damaging |
Het |
Ambn |
T |
C |
5: 88,608,559 (GRCm39) |
|
probably benign |
Het |
Anapc7 |
T |
C |
5: 122,566,219 (GRCm39) |
Y43H |
probably benign |
Het |
Anxa10 |
T |
A |
8: 62,513,373 (GRCm39) |
I255F |
probably damaging |
Het |
Atg2b |
A |
T |
12: 105,630,268 (GRCm39) |
Y374* |
probably null |
Het |
Axl |
T |
A |
7: 25,465,949 (GRCm39) |
M563L |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,422,055 (GRCm39) |
E1108G |
probably damaging |
Het |
Casp1 |
T |
C |
9: 5,303,110 (GRCm39) |
M188T |
probably damaging |
Het |
Chd3 |
A |
T |
11: 69,251,998 (GRCm39) |
C87* |
probably null |
Het |
Col6a3 |
G |
A |
1: 90,703,321 (GRCm39) |
T2475I |
unknown |
Het |
Creb3l4 |
A |
T |
3: 90,149,615 (GRCm39) |
S83R |
probably damaging |
Het |
Cyp2a4 |
G |
A |
7: 26,011,612 (GRCm39) |
E278K |
possibly damaging |
Het |
Dync1li2 |
A |
C |
8: 105,156,047 (GRCm39) |
Y265D |
probably damaging |
Het |
Eif3f |
G |
A |
7: 108,534,019 (GRCm39) |
|
probably null |
Het |
Eipr1 |
C |
T |
12: 28,810,091 (GRCm39) |
T22I |
possibly damaging |
Het |
Fbxo48 |
A |
G |
11: 16,903,382 (GRCm39) |
K3E |
possibly damaging |
Het |
Fbxw13 |
A |
G |
9: 109,010,534 (GRCm39) |
F368S |
probably damaging |
Het |
Fbxw19 |
A |
T |
9: 109,315,038 (GRCm39) |
W175R |
probably damaging |
Het |
Fibcd1 |
G |
A |
2: 31,728,678 (GRCm39) |
P60S |
probably benign |
Het |
Foxa3 |
A |
T |
7: 18,748,805 (GRCm39) |
M107K |
probably benign |
Het |
Foxj2 |
G |
A |
6: 122,819,791 (GRCm39) |
D560N |
probably damaging |
Het |
Gfm2 |
A |
G |
13: 97,289,757 (GRCm39) |
R181G |
possibly damaging |
Het |
Gpr25 |
C |
T |
1: 136,188,553 (GRCm39) |
G20D |
possibly damaging |
Het |
Grin1 |
A |
G |
2: 25,187,641 (GRCm39) |
V594A |
probably damaging |
Het |
Itpripl1 |
A |
G |
2: 126,983,534 (GRCm39) |
V196A |
probably benign |
Het |
Kcns1 |
A |
G |
2: 164,006,682 (GRCm39) |
I427T |
probably damaging |
Het |
Kiz |
T |
C |
2: 146,731,476 (GRCm39) |
V322A |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Muc19 |
T |
A |
15: 91,777,200 (GRCm39) |
|
noncoding transcript |
Het |
Naa16 |
A |
G |
14: 79,580,738 (GRCm39) |
M592T |
probably benign |
Het |
Naa80 |
A |
T |
9: 107,460,367 (GRCm39) |
E87D |
possibly damaging |
Het |
Ncapd3 |
T |
A |
9: 26,955,783 (GRCm39) |
|
probably null |
Het |
Nebl |
C |
A |
2: 17,439,740 (GRCm39) |
D178Y |
probably damaging |
Het |
Nedd1 |
T |
A |
10: 92,549,988 (GRCm39) |
N99I |
possibly damaging |
Het |
Nuak1 |
T |
C |
10: 84,211,209 (GRCm39) |
D293G |
possibly damaging |
Het |
Or5b123 |
A |
T |
19: 13,596,996 (GRCm39) |
I157F |
probably damaging |
Het |
Or5m9b |
T |
C |
2: 85,905,675 (GRCm39) |
M197T |
possibly damaging |
Het |
Palb2 |
A |
G |
7: 121,713,652 (GRCm39) |
V877A |
probably damaging |
Het |
Rassf6 |
C |
T |
5: 90,754,664 (GRCm39) |
V205I |
probably damaging |
Het |
Rbak |
A |
G |
5: 143,159,860 (GRCm39) |
Y398H |
probably damaging |
Het |
Rcbtb1 |
A |
G |
14: 59,448,041 (GRCm39) |
|
probably benign |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Smpdl3a |
C |
A |
10: 57,685,181 (GRCm39) |
T317K |
probably damaging |
Het |
Speer4e1 |
C |
T |
5: 14,987,130 (GRCm39) |
V92M |
probably damaging |
Het |
Syne2 |
A |
G |
12: 76,047,605 (GRCm39) |
I4009V |
probably benign |
Het |
Tarbp1 |
G |
A |
8: 127,154,571 (GRCm39) |
L1474F |
probably damaging |
Het |
Trpc4 |
T |
C |
3: 54,198,761 (GRCm39) |
S562P |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,567,409 (GRCm39) |
D27828G |
probably damaging |
Het |
Ulk4 |
T |
C |
9: 121,089,105 (GRCm39) |
D258G |
probably benign |
Het |
Vmn1r215 |
A |
G |
13: 23,260,731 (GRCm39) |
H257R |
probably benign |
Het |
Vmn2r56 |
A |
C |
7: 12,444,954 (GRCm39) |
M433R |
probably benign |
Het |
Vmn2r76 |
C |
A |
7: 85,875,201 (GRCm39) |
C592F |
probably benign |
Het |
Zcchc8 |
C |
T |
5: 123,838,766 (GRCm39) |
V591I |
probably benign |
Het |
Znhit6 |
G |
C |
3: 145,282,409 (GRCm39) |
G96A |
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 |
|
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 |
|
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'- TAAGGCGCGATCTGGAGTTG -3'
(R):5'- TCTGGGTAATGCTCTCGTCG -3'
Sequencing Primer
(F):5'- TCTGGAGTTGAGGCGCGAAC -3'
(R):5'- AATGCTCTCGTCGGGTTC -3'
|
Posted On |
2015-01-23 |