Incidental Mutation 'R7449:Tchh'
| ID |
577542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tchh
|
| Ensembl Gene |
ENSMUSG00000052415 |
| Gene Name |
trichohyalin |
| Synonyms |
Thh, AHF |
| MMRRC Submission |
045524-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.066)
|
| Stock # |
R7449 (G1)
|
| Quality Score |
189.462 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
93442330-93449077 bp(+) (GRCm38) |
| Type of Mutation |
small deletion (12 aa in frame mutation) |
| DNA Base Change (assembly) |
CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC to CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC
at 93446708 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069525
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000064257]
|
| AlphaFold |
A0A0B4J1F9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000064257
|
| SMART Domains |
Protein: ENSMUSP00000069525
Gene: ENSMUSG00000052415
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,435,908 (GRCm38) |
Y306N |
possibly damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,499,073 (GRCm38) |
V3116D |
probably damaging |
Het |
| Adss1 |
A |
T |
12: 112,634,151 (GRCm38) |
T185S |
probably damaging |
Het |
| Ago2 |
G |
A |
15: 73,146,499 (GRCm38) |
P30L |
probably damaging |
Het |
| Arb2a |
A |
G |
13: 77,759,442 (GRCm38) |
I41V |
probably damaging |
Het |
| Atp5pf |
C |
T |
16: 84,831,363 (GRCm38) |
V44M |
probably benign |
Het |
| Atp7b |
T |
A |
8: 22,011,849 (GRCm38) |
I833F |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,702,341 (GRCm38) |
N4869K |
probably benign |
Het |
| Cacna1c |
C |
T |
6: 118,602,349 (GRCm38) |
D1796N |
|
Het |
| Ccng2 |
C |
G |
5: 93,273,343 (GRCm38) |
S237R |
probably benign |
Het |
| Cnga1 |
A |
G |
5: 72,605,304 (GRCm38) |
I289T |
probably benign |
Het |
| Crybg1 |
C |
A |
10: 44,004,519 (GRCm38) |
E224D |
probably benign |
Het |
| Dysf |
T |
C |
6: 84,137,380 (GRCm38) |
L1217P |
possibly damaging |
Het |
| Ebf2 |
T |
A |
14: 67,410,020 (GRCm38) |
N339K |
probably damaging |
Het |
| Eva1c |
T |
C |
16: 90,876,193 (GRCm38) |
|
probably null |
Het |
| Fam184a |
T |
C |
10: 53,698,634 (GRCm38) |
E293G |
probably damaging |
Het |
| Folh1 |
G |
A |
7: 86,731,748 (GRCm38) |
P506S |
probably benign |
Het |
| Ftcd |
A |
T |
10: 76,580,163 (GRCm38) |
K210N |
probably benign |
Het |
| Gdf6 |
T |
A |
4: 9,844,494 (GRCm38) |
V6D |
possibly damaging |
Het |
| Ghitm |
C |
A |
14: 37,131,581 (GRCm38) |
G101C |
probably damaging |
Het |
| Gimap5 |
T |
A |
6: 48,752,904 (GRCm38) |
V136D |
probably damaging |
Het |
| Grm4 |
C |
T |
17: 27,435,371 (GRCm38) |
G535D |
probably damaging |
Het |
| Gse1 |
T |
C |
8: 120,229,711 (GRCm38) |
S314P |
unknown |
Het |
| Hnrnpdl |
A |
G |
5: 100,037,155 (GRCm38) |
I279T |
probably damaging |
Het |
| Idi2l |
T |
A |
13: 8,943,304 (GRCm38) |
H51L |
probably damaging |
Het |
| Itpr1 |
T |
C |
6: 108,389,384 (GRCm38) |
S923P |
probably damaging |
Het |
| Krt39 |
C |
A |
11: 99,518,061 (GRCm38) |
C303F |
probably benign |
Het |
| Lrrn1 |
T |
C |
6: 107,568,521 (GRCm38) |
S427P |
possibly damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,453,488 (GRCm38) |
R277W |
probably damaging |
Het |
| Ltb4r1 |
T |
C |
14: 55,767,918 (GRCm38) |
L226P |
probably damaging |
Het |
| Map1b |
C |
T |
13: 99,508,140 (GRCm38) |
R85Q |
probably damaging |
Het |
| Mcoln1 |
T |
C |
8: 3,507,285 (GRCm38) |
L125P |
probably damaging |
Het |
| Nid1 |
T |
G |
13: 13,482,051 (GRCm38) |
V589G |
probably damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,417,526 (GRCm38) |
F225C |
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,157,966 (GRCm38) |
A322T |
probably damaging |
Het |
| Or14c43 |
A |
G |
7: 86,465,855 (GRCm38) |
H148R |
probably benign |
Het |
| Or52a5b |
G |
T |
7: 103,767,819 (GRCm38) |
Q193K |
probably benign |
Het |
| Or7g34 |
T |
A |
9: 19,566,866 (GRCm38) |
T173S |
probably benign |
Het |
| Otogl |
A |
G |
10: 107,803,663 (GRCm38) |
C1363R |
probably damaging |
Het |
| Ovol1 |
T |
A |
19: 5,553,597 (GRCm38) |
D92V |
probably benign |
Het |
| Pigt |
T |
C |
2: 164,502,499 (GRCm38) |
L356P |
probably damaging |
Het |
| Plekhg3 |
A |
G |
12: 76,566,222 (GRCm38) |
Q434R |
probably damaging |
Het |
| Plekhh1 |
T |
C |
12: 79,079,552 (GRCm38) |
F1344L |
probably benign |
Het |
| Polr1has |
A |
G |
17: 36,964,383 (GRCm38) |
D16G |
probably damaging |
Het |
| Psmd3 |
T |
A |
11: 98,695,551 (GRCm38) |
L515Q |
probably damaging |
Het |
| Pus1 |
A |
G |
5: 110,774,586 (GRCm38) |
L405P |
probably damaging |
Het |
| Qtrt2 |
T |
A |
16: 43,881,032 (GRCm38) |
H55L |
probably benign |
Het |
| Rasgrp1 |
T |
C |
2: 117,287,943 (GRCm38) |
I522V |
probably damaging |
Het |
| Raver2 |
T |
A |
4: 101,102,663 (GRCm38) |
H113Q |
probably damaging |
Het |
| Recql4 |
T |
C |
15: 76,705,565 (GRCm38) |
D760G |
unknown |
Het |
| Rhobtb3 |
C |
T |
13: 75,910,741 (GRCm38) |
V313M |
probably benign |
Het |
| Rhox4d |
G |
A |
X: 37,518,992 (GRCm38) |
G191E |
unknown |
Het |
| Rictor |
C |
T |
15: 6,772,154 (GRCm38) |
S441L |
probably benign |
Het |
| Rnf185 |
T |
C |
11: 3,426,578 (GRCm38) |
Q135R |
probably benign |
Het |
| Sema3f |
T |
C |
9: 107,684,036 (GRCm38) |
S584G |
probably damaging |
Het |
| Sh3pxd2a |
T |
A |
19: 47,267,652 (GRCm38) |
T904S |
probably benign |
Het |
| Slc4a10 |
T |
C |
2: 62,303,946 (GRCm38) |
V1002A |
probably benign |
Het |
| Taf1b |
T |
C |
12: 24,504,993 (GRCm38) |
I55T |
probably benign |
Het |
| Tenm4 |
A |
T |
7: 96,874,213 (GRCm38) |
D1654V |
possibly damaging |
Het |
| Tgfb1 |
G |
A |
7: 25,704,838 (GRCm38) |
V357M |
probably damaging |
Het |
| Tnxb |
C |
T |
17: 34,703,361 (GRCm38) |
P2383S |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 64,208,975 (GRCm38) |
M382L |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,851,209 (GRCm38) |
Y3516C |
probably damaging |
Het |
| Txnrd1 |
T |
A |
10: 82,885,233 (GRCm38) |
Y494* |
probably null |
Het |
| Ubr2 |
C |
T |
17: 46,964,788 (GRCm38) |
E811K |
probably damaging |
Het |
| Ubxn4 |
T |
A |
1: 128,244,543 (GRCm38) |
F25I |
possibly damaging |
Het |
| Vmn2r117 |
A |
G |
17: 23,459,895 (GRCm38) |
M785T |
probably damaging |
Het |
| Vmn2r99 |
G |
A |
17: 19,379,145 (GRCm38) |
D364N |
probably benign |
Het |
| Vps45 |
C |
A |
3: 96,047,136 (GRCm38) |
|
probably null |
Het |
| Wdr25 |
A |
C |
12: 109,026,441 (GRCm38) |
H426P |
probably damaging |
Het |
| Wdr83 |
A |
T |
8: 85,079,681 (GRCm38) |
W136R |
probably damaging |
Het |
| Xylt1 |
A |
C |
7: 117,592,005 (GRCm38) |
I343L |
possibly damaging |
Het |
| Zscan4b |
T |
C |
7: 10,904,058 (GRCm38) |
Q53R |
possibly 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 |
|
|
R1978:Tchh
|
UTSW |
3 |
93,446,799 (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 |
|
|
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'- GGAACCGGACAGAAGATTCC -3'
(R):5'- TCACGGACTTTTCTGTCACG -3'
Sequencing Primer
(F):5'- CTGCGGGACAGTAAGATCC -3'
(R):5'- TGTCACGTTCCTGGCGC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation