Incidental Mutation 'R1978:Tchh'
| ID |
221958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tchh
|
| Ensembl Gene |
ENSMUSG00000052415 |
| Gene Name |
trichohyalin |
| Synonyms |
Thh, AHF |
| MMRRC Submission |
039991-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R1978 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93442330-93449077 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93446799 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 1182
(L1182P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064257]
|
| AlphaFold |
A0A0B4J1F9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000064257
AA Change: L1182P
|
| SMART Domains |
Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
AA Change: L1182P
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 63,898,537 (GRCm38) |
C205* |
probably null |
Het |
| 2810474O19Rik |
T |
A |
6: 149,326,432 (GRCm38) |
N325K |
probably benign |
Het |
| 4921539E11Rik |
T |
A |
4: 103,270,764 (GRCm38) |
T55S |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,313,855 (GRCm38) |
D88G |
probably benign |
Het |
| Ankrd53 |
C |
A |
6: 83,763,203 (GRCm38) |
F84L |
probably damaging |
Het |
| Apol7b |
A |
C |
15: 77,423,339 (GRCm38) |
F319V |
probably damaging |
Het |
| Bsn |
A |
G |
9: 108,114,549 (GRCm38) |
S1335P |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,803,158 (GRCm38) |
|
probably null |
Het |
| Cfap57 |
A |
G |
4: 118,593,132 (GRCm38) |
S598P |
probably benign |
Het |
| Commd8 |
T |
C |
5: 72,165,499 (GRCm38) |
H25R |
probably damaging |
Het |
| Crisp4 |
T |
C |
1: 18,128,665 (GRCm38) |
I143V |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,438,145 (GRCm38) |
T483S |
probably benign |
Het |
| Dbx2 |
C |
T |
15: 95,632,353 (GRCm38) |
M244I |
probably damaging |
Het |
| Dnah6 |
T |
G |
6: 73,121,970 (GRCm38) |
H1982P |
possibly damaging |
Het |
| Fam220a |
C |
A |
5: 143,563,127 (GRCm38) |
P98Q |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,029,543 (GRCm38) |
K29E |
possibly damaging |
Het |
| Gm14569 |
A |
C |
X: 36,432,128 (GRCm38) |
M976R |
probably benign |
Het |
| Gm9573 |
T |
A |
17: 35,622,965 (GRCm38) |
|
probably benign |
Het |
| Hck |
G |
T |
2: 153,129,856 (GRCm38) |
W112C |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,939,658 (GRCm38) |
S591T |
possibly damaging |
Het |
| Hhat |
A |
G |
1: 192,717,107 (GRCm38) |
S242P |
probably benign |
Het |
| Hnrnpll |
A |
G |
17: 80,044,518 (GRCm38) |
S333P |
probably benign |
Het |
| Hoxc6 |
T |
C |
15: 103,010,007 (GRCm38) |
|
probably null |
Het |
| Inpp5j |
G |
A |
11: 3,502,150 (GRCm38) |
P367S |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,133,597 (GRCm38) |
|
probably null |
Het |
| Loxhd1 |
T |
A |
18: 77,321,642 (GRCm38) |
I194N |
possibly damaging |
Het |
| Miga1 |
CCAGGGCAG |
CCAG |
3: 152,335,304 (GRCm38) |
|
probably null |
Het |
| Mkln1 |
C |
T |
6: 31,490,530 (GRCm38) |
Q60* |
probably null |
Het |
| Mybph |
C |
A |
1: 134,196,996 (GRCm38) |
H185N |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,520,829 (GRCm38) |
D9G |
possibly damaging |
Het |
| Myo6 |
A |
T |
9: 80,228,925 (GRCm38) |
D110V |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,691,299 (GRCm38) |
V412A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,287,345 (GRCm38) |
K1328R |
probably damaging |
Het |
| Olfm5 |
T |
A |
7: 104,164,741 (GRCm38) |
Q22L |
unknown |
Het |
| Olfr1106 |
C |
T |
2: 87,048,835 (GRCm38) |
V134M |
possibly damaging |
Het |
| Olfr1328 |
A |
T |
4: 118,934,184 (GRCm38) |
Y221* |
probably null |
Het |
| Olfr1355 |
A |
G |
10: 78,879,280 (GRCm38) |
Y36C |
probably damaging |
Het |
| Olfr1414 |
C |
A |
1: 92,511,777 (GRCm38) |
G84C |
probably damaging |
Het |
| Olfr1423 |
T |
C |
19: 12,036,341 (GRCm38) |
T134A |
probably benign |
Het |
| Olfr414 |
T |
A |
1: 174,431,091 (GRCm38) |
I221N |
probably damaging |
Het |
| P3h1 |
A |
T |
4: 119,247,976 (GRCm38) |
Q717L |
probably null |
Het |
| Pclo |
T |
C |
5: 14,713,795 (GRCm38) |
I4094T |
unknown |
Het |
| Pfdn6 |
G |
A |
17: 33,939,077 (GRCm38) |
R73W |
probably benign |
Het |
| Phyhipl |
A |
C |
10: 70,559,761 (GRCm38) |
M205R |
possibly damaging |
Het |
| Pitpnm1 |
C |
T |
19: 4,107,973 (GRCm38) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,752,578 (GRCm38) |
|
probably null |
Het |
| Pnldc1 |
A |
G |
17: 12,906,505 (GRCm38) |
S81P |
possibly damaging |
Het |
| Pno1 |
T |
C |
11: 17,204,519 (GRCm38) |
I221V |
possibly damaging |
Het |
| Porcn |
A |
G |
X: 8,204,301 (GRCm38) |
V75A |
probably damaging |
Het |
| Prkcg |
T |
A |
7: 3,305,346 (GRCm38) |
C69S |
probably damaging |
Het |
| Rbbp6 |
G |
T |
7: 122,999,488 (GRCm38) |
|
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,110,324 (GRCm38) |
|
probably benign |
Het |
| Scly |
A |
G |
1: 91,320,169 (GRCm38) |
D413G |
probably damaging |
Het |
| Scn11a |
G |
A |
9: 119,780,795 (GRCm38) |
R996* |
probably null |
Het |
| Slc6a13 |
A |
T |
6: 121,332,373 (GRCm38) |
D281V |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,956,616 (GRCm38) |
V109A |
probably benign |
Het |
| Smyd1 |
A |
T |
6: 71,312,719 (GRCm38) |
|
probably null |
Het |
| Snx29 |
T |
A |
16: 11,367,724 (GRCm38) |
M57K |
probably benign |
Het |
| Stag1 |
T |
G |
9: 100,888,086 (GRCm38) |
I603S |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,097,292 (GRCm38) |
C1417F |
possibly damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,189,351 (GRCm38) |
I392V |
probably benign |
Het |
| Tle3 |
T |
A |
9: 61,394,633 (GRCm38) |
V108E |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,825,400 (GRCm38) |
|
probably null |
Het |
| Tpr |
T |
G |
1: 150,419,907 (GRCm38) |
L894V |
possibly damaging |
Het |
| Trappc9 |
A |
T |
15: 73,000,025 (GRCm38) |
V472E |
probably damaging |
Het |
| Trim38 |
T |
C |
13: 23,791,098 (GRCm38) |
V340A |
probably damaging |
Het |
| Ttc37 |
T |
C |
13: 76,134,815 (GRCm38) |
V752A |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,811,243 (GRCm38) |
L5176Q |
possibly damaging |
Het |
| Vmn1r12 |
T |
A |
6: 57,159,509 (GRCm38) |
I197N |
possibly damaging |
Het |
| Vmn1r26 |
T |
C |
6: 58,009,126 (GRCm38) |
Y26C |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,758,954 (GRCm38) |
I83V |
probably null |
Het |
| Xirp1 |
C |
T |
9: 120,018,591 (GRCm38) |
E409K |
probably benign |
Het |
| Zc3h14 |
T |
G |
12: 98,763,922 (GRCm38) |
I46R |
probably damaging |
Het |
| Zfp976 |
A |
G |
7: 42,613,841 (GRCm38) |
C191R |
probably damaging |
Het |
|
| Other mutations in Tchh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00155:Tchh
|
APN |
3 |
93,445,299 (GRCm38) |
missense |
unknown |
|
|
IGL00338:Tchh
|
APN |
3 |
93,447,644 (GRCm38) |
missense |
unknown |
|
|
IGL00541:Tchh
|
APN |
3 |
93,446,250 (GRCm38) |
missense |
unknown |
|
|
IGL02510:Tchh
|
APN |
3 |
93,444,078 (GRCm38) |
missense |
unknown |
|
|
IGL02622:Tchh
|
APN |
3 |
93,443,412 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03164:Tchh
|
APN |
3 |
93,445,392 (GRCm38) |
missense |
unknown |
|
|
IGL03331:Tchh
|
APN |
3 |
93,443,418 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4453001:Tchh
|
UTSW |
3 |
93,445,880 (GRCm38) |
missense |
unknown |
|
|
R0334:Tchh
|
UTSW |
3 |
93,445,616 (GRCm38) |
missense |
unknown |
|
|
R0603:Tchh
|
UTSW |
3 |
93,443,781 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R1186:Tchh
|
UTSW |
3 |
93,448,046 (GRCm38) |
missense |
unknown |
|
|
R1241:Tchh
|
UTSW |
3 |
93,444,972 (GRCm38) |
missense |
unknown |
|
|
R1610:Tchh
|
UTSW |
3 |
93,444,839 (GRCm38) |
missense |
unknown |
|
|
R1768:Tchh
|
UTSW |
3 |
93,443,575 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R1843:Tchh
|
UTSW |
3 |
93,446,780 (GRCm38) |
missense |
unknown |
|
|
R1866:Tchh
|
UTSW |
3 |
93,447,760 (GRCm38) |
missense |
unknown |
|
|
R2008:Tchh
|
UTSW |
3 |
93,445,974 (GRCm38) |
missense |
unknown |
|
|
R2011:Tchh
|
UTSW |
3 |
93,446,961 (GRCm38) |
missense |
unknown |
|
|
R2087:Tchh
|
UTSW |
3 |
93,443,918 (GRCm38) |
missense |
unknown |
|
|
R2177:Tchh
|
UTSW |
3 |
93,444,132 (GRCm38) |
missense |
unknown |
|
|
R2292:Tchh
|
UTSW |
3 |
93,442,382 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2418:Tchh
|
UTSW |
3 |
93,445,629 (GRCm38) |
missense |
unknown |
|
|
R2877:Tchh
|
UTSW |
3 |
93,444,228 (GRCm38) |
missense |
unknown |
|
|
R2995:Tchh
|
UTSW |
3 |
93,447,750 (GRCm38) |
small deletion |
probably benign |
|
|
R2997:Tchh
|
UTSW |
3 |
93,447,750 (GRCm38) |
small deletion |
probably benign |
|
|
R3439:Tchh
|
UTSW |
3 |
93,447,393 (GRCm38) |
missense |
unknown |
|
|
R3440:Tchh
|
UTSW |
3 |
93,445,107 (GRCm38) |
missense |
unknown |
|
|
R3441:Tchh
|
UTSW |
3 |
93,445,107 (GRCm38) |
missense |
unknown |
|
|
R4063:Tchh
|
UTSW |
3 |
93,446,991 (GRCm38) |
missense |
unknown |
|
|
R4550:Tchh
|
UTSW |
3 |
93,445,310 (GRCm38) |
missense |
unknown |
|
|
R4720:Tchh
|
UTSW |
3 |
93,447,882 (GRCm38) |
missense |
unknown |
|
|
R4836:Tchh
|
UTSW |
3 |
93,447,588 (GRCm38) |
missense |
unknown |
|
|
R4836:Tchh
|
UTSW |
3 |
93,445,148 (GRCm38) |
missense |
unknown |
|
|
R4880:Tchh
|
UTSW |
3 |
93,443,823 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R4895:Tchh
|
UTSW |
3 |
93,445,686 (GRCm38) |
missense |
unknown |
|
|
R5188:Tchh
|
UTSW |
3 |
93,446,679 (GRCm38) |
missense |
unknown |
|
|
R5404:Tchh
|
UTSW |
3 |
93,447,675 (GRCm38) |
missense |
unknown |
|
|
R5435:Tchh
|
UTSW |
3 |
93,443,672 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R5578:Tchh
|
UTSW |
3 |
93,444,311 (GRCm38) |
nonsense |
probably null |
|
|
R5678:Tchh
|
UTSW |
3 |
93,445,626 (GRCm38) |
missense |
unknown |
|
|
R5697:Tchh
|
UTSW |
3 |
93,445,043 (GRCm38) |
nonsense |
probably null |
|
|
R5768:Tchh
|
UTSW |
3 |
93,446,181 (GRCm38) |
missense |
unknown |
|
|
R5809:Tchh
|
UTSW |
3 |
93,445,573 (GRCm38) |
missense |
unknown |
|
|
R5934:Tchh
|
UTSW |
3 |
93,444,112 (GRCm38) |
missense |
unknown |
|
|
R5945:Tchh
|
UTSW |
3 |
93,445,337 (GRCm38) |
missense |
unknown |
|
|
R6313:Tchh
|
UTSW |
3 |
93,447,851 (GRCm38) |
missense |
unknown |
|
|
R6329:Tchh
|
UTSW |
3 |
93,446,445 (GRCm38) |
missense |
unknown |
|
|
R6397:Tchh
|
UTSW |
3 |
93,445,866 (GRCm38) |
missense |
unknown |
|
|
R6818:Tchh
|
UTSW |
3 |
93,443,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6997:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R7174:Tchh
|
UTSW |
3 |
93,446,171 (GRCm38) |
missense |
unknown |
|
|
R7268:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R7270:Tchh
|
UTSW |
3 |
93,444,530 (GRCm38) |
missense |
unknown |
|
|
R7449:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R7745:Tchh
|
UTSW |
3 |
93,444,777 (GRCm38) |
missense |
unknown |
|
|
R8201:Tchh
|
UTSW |
3 |
93,443,474 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8375:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R8438:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R8676:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R8801:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R8893:Tchh
|
UTSW |
3 |
93,447,650 (GRCm38) |
nonsense |
probably null |
|
|
R9104:Tchh
|
UTSW |
3 |
93,447,303 (GRCm38) |
missense |
unknown |
|
|
R9318:Tchh
|
UTSW |
3 |
93,446,744 (GRCm38) |
missense |
unknown |
|
|
R9328:Tchh
|
UTSW |
3 |
93,444,263 (GRCm38) |
missense |
unknown |
|
|
R9386:Tchh
|
UTSW |
3 |
93,447,039 (GRCm38) |
missense |
unknown |
|
|
R9499:Tchh
|
UTSW |
3 |
93,446,708 (GRCm38) |
small deletion |
probably benign |
|
|
R9553:Tchh
|
UTSW |
3 |
93,447,818 (GRCm38) |
nonsense |
probably null |
|
|
R9644:Tchh
|
UTSW |
3 |
93,447,359 (GRCm38) |
missense |
unknown |
|
|
Z1088:Tchh
|
UTSW |
3 |
93,445,682 (GRCm38) |
nonsense |
probably null |
|
|
Z1176:Tchh
|
UTSW |
3 |
93,446,859 (GRCm38) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGGAACTTGACAGAAAATTC -3'
(R):5'- ACGGAATTTTCTGTCACGTTC -3'
Sequencing Primer
(F):5'- AACTTGACAGAAAATTCCGTGAG -3'
(R):5'- CAGTCCCTGGCGGAGTTCTTG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation