Incidental Mutation 'R8685:Hrnr'
ID |
661977 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hrnr
|
Ensembl Gene |
ENSMUSG00000041991 |
Gene Name |
hornerin |
Synonyms |
1110033K19Rik, A530063N20Rik, S100a18 |
MMRRC Submission |
068540-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8685 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
93227056-93240877 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 93230205 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 148
(S148T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090856]
[ENSMUST00000093774]
|
AlphaFold |
no structure available at present |
Predicted Effect |
unknown
Transcript: ENSMUST00000090856
AA Change: S148T
|
SMART Domains |
Protein: ENSMUSP00000088369 Gene: ENSMUSG00000041991 AA Change: S148T
Domain | Start | End | E-Value | Type |
Pfam:S_100
|
4 |
47 |
4.8e-15 |
PFAM |
Blast:EFh
|
53 |
81 |
6e-9 |
BLAST |
internal_repeat_5
|
95 |
129 |
7.19e-7 |
PROSPERO |
low complexity region
|
135 |
155 |
N/A |
INTRINSIC |
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
low complexity region
|
200 |
246 |
N/A |
INTRINSIC |
low complexity region
|
255 |
287 |
N/A |
INTRINSIC |
internal_repeat_2
|
288 |
341 |
5.7e-19 |
PROSPERO |
internal_repeat_1
|
291 |
354 |
5.27e-23 |
PROSPERO |
internal_repeat_3
|
301 |
355 |
9.03e-17 |
PROSPERO |
internal_repeat_5
|
309 |
343 |
7.19e-7 |
PROSPERO |
low complexity region
|
358 |
379 |
N/A |
INTRINSIC |
low complexity region
|
394 |
415 |
N/A |
INTRINSIC |
low complexity region
|
421 |
498 |
N/A |
INTRINSIC |
low complexity region
|
501 |
523 |
N/A |
INTRINSIC |
low complexity region
|
527 |
593 |
N/A |
INTRINSIC |
low complexity region
|
598 |
675 |
N/A |
INTRINSIC |
low complexity region
|
679 |
713 |
N/A |
INTRINSIC |
low complexity region
|
723 |
764 |
N/A |
INTRINSIC |
low complexity region
|
769 |
846 |
N/A |
INTRINSIC |
low complexity region
|
849 |
871 |
N/A |
INTRINSIC |
low complexity region
|
875 |
941 |
N/A |
INTRINSIC |
low complexity region
|
946 |
1023 |
N/A |
INTRINSIC |
low complexity region
|
1027 |
1061 |
N/A |
INTRINSIC |
low complexity region
|
1084 |
1112 |
N/A |
INTRINSIC |
low complexity region
|
1117 |
1194 |
N/A |
INTRINSIC |
low complexity region
|
1197 |
1219 |
N/A |
INTRINSIC |
low complexity region
|
1223 |
1289 |
N/A |
INTRINSIC |
low complexity region
|
1294 |
1371 |
N/A |
INTRINSIC |
low complexity region
|
1375 |
1409 |
N/A |
INTRINSIC |
low complexity region
|
1419 |
1460 |
N/A |
INTRINSIC |
low complexity region
|
1465 |
1542 |
N/A |
INTRINSIC |
low complexity region
|
1545 |
1567 |
N/A |
INTRINSIC |
low complexity region
|
1571 |
1637 |
N/A |
INTRINSIC |
low complexity region
|
1642 |
1719 |
N/A |
INTRINSIC |
low complexity region
|
1723 |
1757 |
N/A |
INTRINSIC |
low complexity region
|
1767 |
1808 |
N/A |
INTRINSIC |
low complexity region
|
1813 |
1890 |
N/A |
INTRINSIC |
low complexity region
|
1893 |
1915 |
N/A |
INTRINSIC |
low complexity region
|
1919 |
1985 |
N/A |
INTRINSIC |
low complexity region
|
1990 |
2067 |
N/A |
INTRINSIC |
low complexity region
|
2071 |
2105 |
N/A |
INTRINSIC |
low complexity region
|
2115 |
2156 |
N/A |
INTRINSIC |
low complexity region
|
2161 |
2238 |
N/A |
INTRINSIC |
low complexity region
|
2242 |
2327 |
N/A |
INTRINSIC |
low complexity region
|
2332 |
2409 |
N/A |
INTRINSIC |
low complexity region
|
2413 |
2447 |
N/A |
INTRINSIC |
low complexity region
|
2457 |
2498 |
N/A |
INTRINSIC |
low complexity region
|
2503 |
2580 |
N/A |
INTRINSIC |
low complexity region
|
2583 |
2605 |
N/A |
INTRINSIC |
low complexity region
|
2609 |
2675 |
N/A |
INTRINSIC |
low complexity region
|
2680 |
2757 |
N/A |
INTRINSIC |
low complexity region
|
2761 |
2795 |
N/A |
INTRINSIC |
low complexity region
|
2805 |
2846 |
N/A |
INTRINSIC |
low complexity region
|
2851 |
2896 |
N/A |
INTRINSIC |
internal_repeat_4
|
2897 |
2968 |
4.19e-13 |
PROSPERO |
internal_repeat_3
|
2901 |
2955 |
9.03e-17 |
PROSPERO |
internal_repeat_2
|
2920 |
2967 |
5.7e-19 |
PROSPERO |
low complexity region
|
2969 |
2985 |
N/A |
INTRINSIC |
low complexity region
|
3016 |
3034 |
N/A |
INTRINSIC |
internal_repeat_1
|
3039 |
3101 |
5.27e-23 |
PROSPERO |
internal_repeat_4
|
3045 |
3103 |
4.19e-13 |
PROSPERO |
low complexity region
|
3140 |
3153 |
N/A |
INTRINSIC |
low complexity region
|
3163 |
3174 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000093774
AA Change: S148T
|
SMART Domains |
Protein: ENSMUSP00000091288 Gene: ENSMUSG00000041991 AA Change: S148T
Domain | Start | End | E-Value | Type |
Pfam:S_100
|
4 |
46 |
3.1e-17 |
PFAM |
Blast:EFh
|
53 |
81 |
6e-9 |
BLAST |
internal_repeat_5
|
95 |
129 |
5.9e-7 |
PROSPERO |
low complexity region
|
135 |
155 |
N/A |
INTRINSIC |
low complexity region
|
157 |
168 |
N/A |
INTRINSIC |
low complexity region
|
183 |
197 |
N/A |
INTRINSIC |
low complexity region
|
200 |
246 |
N/A |
INTRINSIC |
low complexity region
|
255 |
287 |
N/A |
INTRINSIC |
internal_repeat_2
|
288 |
341 |
3.49e-19 |
PROSPERO |
internal_repeat_1
|
291 |
354 |
2.93e-23 |
PROSPERO |
internal_repeat_3
|
301 |
355 |
5.83e-17 |
PROSPERO |
internal_repeat_5
|
309 |
343 |
5.9e-7 |
PROSPERO |
low complexity region
|
358 |
379 |
N/A |
INTRINSIC |
low complexity region
|
394 |
415 |
N/A |
INTRINSIC |
low complexity region
|
421 |
498 |
N/A |
INTRINSIC |
low complexity region
|
501 |
523 |
N/A |
INTRINSIC |
low complexity region
|
527 |
593 |
N/A |
INTRINSIC |
low complexity region
|
598 |
675 |
N/A |
INTRINSIC |
low complexity region
|
679 |
713 |
N/A |
INTRINSIC |
low complexity region
|
723 |
764 |
N/A |
INTRINSIC |
low complexity region
|
769 |
846 |
N/A |
INTRINSIC |
low complexity region
|
849 |
871 |
N/A |
INTRINSIC |
low complexity region
|
875 |
941 |
N/A |
INTRINSIC |
low complexity region
|
946 |
1023 |
N/A |
INTRINSIC |
low complexity region
|
1027 |
1061 |
N/A |
INTRINSIC |
low complexity region
|
1084 |
1112 |
N/A |
INTRINSIC |
low complexity region
|
1117 |
1194 |
N/A |
INTRINSIC |
low complexity region
|
1197 |
1219 |
N/A |
INTRINSIC |
low complexity region
|
1223 |
1289 |
N/A |
INTRINSIC |
low complexity region
|
1294 |
1371 |
N/A |
INTRINSIC |
low complexity region
|
1375 |
1409 |
N/A |
INTRINSIC |
low complexity region
|
1419 |
1460 |
N/A |
INTRINSIC |
low complexity region
|
1465 |
1542 |
N/A |
INTRINSIC |
low complexity region
|
1545 |
1567 |
N/A |
INTRINSIC |
low complexity region
|
1571 |
1637 |
N/A |
INTRINSIC |
low complexity region
|
1642 |
1719 |
N/A |
INTRINSIC |
low complexity region
|
1723 |
1757 |
N/A |
INTRINSIC |
low complexity region
|
1767 |
1808 |
N/A |
INTRINSIC |
low complexity region
|
1813 |
1890 |
N/A |
INTRINSIC |
low complexity region
|
1893 |
1915 |
N/A |
INTRINSIC |
low complexity region
|
1919 |
1985 |
N/A |
INTRINSIC |
low complexity region
|
1990 |
2067 |
N/A |
INTRINSIC |
low complexity region
|
2071 |
2105 |
N/A |
INTRINSIC |
low complexity region
|
2115 |
2156 |
N/A |
INTRINSIC |
low complexity region
|
2161 |
2238 |
N/A |
INTRINSIC |
low complexity region
|
2242 |
2276 |
N/A |
INTRINSIC |
low complexity region
|
2286 |
2327 |
N/A |
INTRINSIC |
low complexity region
|
2332 |
2409 |
N/A |
INTRINSIC |
low complexity region
|
2412 |
2434 |
N/A |
INTRINSIC |
low complexity region
|
2438 |
2504 |
N/A |
INTRINSIC |
low complexity region
|
2509 |
2586 |
N/A |
INTRINSIC |
low complexity region
|
2590 |
2624 |
N/A |
INTRINSIC |
low complexity region
|
2634 |
2675 |
N/A |
INTRINSIC |
low complexity region
|
2680 |
2757 |
N/A |
INTRINSIC |
low complexity region
|
2760 |
2782 |
N/A |
INTRINSIC |
low complexity region
|
2786 |
2852 |
N/A |
INTRINSIC |
low complexity region
|
2857 |
2934 |
N/A |
INTRINSIC |
low complexity region
|
2938 |
2972 |
N/A |
INTRINSIC |
low complexity region
|
2982 |
3023 |
N/A |
INTRINSIC |
low complexity region
|
3028 |
3073 |
N/A |
INTRINSIC |
internal_repeat_4
|
3074 |
3145 |
2.96e-13 |
PROSPERO |
internal_repeat_3
|
3078 |
3132 |
5.83e-17 |
PROSPERO |
internal_repeat_2
|
3097 |
3144 |
3.49e-19 |
PROSPERO |
low complexity region
|
3146 |
3162 |
N/A |
INTRINSIC |
low complexity region
|
3193 |
3211 |
N/A |
INTRINSIC |
internal_repeat_1
|
3216 |
3278 |
2.93e-23 |
PROSPERO |
internal_repeat_4
|
3222 |
3280 |
2.96e-13 |
PROSPERO |
low complexity region
|
3317 |
3330 |
N/A |
INTRINSIC |
low complexity region
|
3340 |
3351 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.7%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057J18Rik |
T |
C |
10: 28,862,140 (GRCm39) |
Y50C |
probably damaging |
Het |
Adgrl3 |
G |
T |
5: 81,874,708 (GRCm39) |
D1002Y |
possibly damaging |
Het |
Aoc3 |
G |
A |
11: 101,223,042 (GRCm39) |
R426H |
probably benign |
Het |
Atf6b |
A |
G |
17: 34,869,320 (GRCm39) |
H179R |
probably benign |
Het |
Bbs4 |
T |
C |
9: 59,247,138 (GRCm39) |
T121A |
probably benign |
Het |
Brca1 |
T |
C |
11: 101,380,672 (GRCm39) |
Y1787C |
probably benign |
Het |
Cbx2 |
T |
A |
11: 118,918,746 (GRCm39) |
S104T |
possibly damaging |
Het |
Cdh10 |
T |
A |
15: 18,899,851 (GRCm39) |
N59K |
possibly damaging |
Het |
Clstn3 |
C |
T |
6: 124,433,867 (GRCm39) |
R431H |
probably damaging |
Het |
Cylc2 |
C |
T |
4: 51,229,651 (GRCm39) |
T331M |
unknown |
Het |
Dcpp3 |
T |
C |
17: 24,138,096 (GRCm39) |
S85P |
probably benign |
Het |
Dip2c |
A |
G |
13: 9,687,161 (GRCm39) |
T1262A |
probably benign |
Het |
Dlgap2 |
A |
G |
8: 14,881,628 (GRCm39) |
E900G |
possibly damaging |
Het |
Dtx4 |
C |
T |
19: 12,446,995 (GRCm39) |
D566N |
probably benign |
Het |
Elmo1 |
T |
A |
13: 20,474,594 (GRCm39) |
N339K |
possibly damaging |
Het |
Gm11596 |
C |
A |
11: 99,683,816 (GRCm39) |
R101S |
unknown |
Het |
Hk1 |
T |
C |
10: 62,132,453 (GRCm39) |
|
probably benign |
Het |
Hyls1 |
A |
G |
9: 35,472,724 (GRCm39) |
Y231H |
probably damaging |
Het |
Il17rb |
T |
A |
14: 29,726,297 (GRCm39) |
Y97F |
probably benign |
Het |
Lamc1 |
G |
T |
1: 153,109,288 (GRCm39) |
T1168K |
probably benign |
Het |
Larp6 |
A |
T |
9: 60,631,495 (GRCm39) |
D89V |
probably damaging |
Het |
Muc4 |
C |
G |
16: 32,575,221 (GRCm39) |
Q1269E |
probably benign |
Het |
Myo18a |
A |
G |
11: 77,745,520 (GRCm39) |
T1953A |
probably benign |
Het |
Myo5c |
A |
G |
9: 75,192,229 (GRCm39) |
D1127G |
possibly damaging |
Het |
Myo7a |
T |
C |
7: 97,746,334 (GRCm39) |
D266G |
probably benign |
Het |
Naa35 |
T |
A |
13: 59,734,036 (GRCm39) |
M22K |
probably benign |
Het |
Niban2 |
T |
G |
2: 32,809,101 (GRCm39) |
L229R |
probably benign |
Het |
Or1f19 |
A |
T |
16: 3,410,904 (GRCm39) |
I215F |
probably damaging |
Het |
Pcdha8 |
T |
A |
18: 37,127,003 (GRCm39) |
V495E |
probably damaging |
Het |
Per2 |
T |
G |
1: 91,378,402 (GRCm39) |
D49A |
possibly damaging |
Het |
Plau |
G |
A |
14: 20,889,627 (GRCm39) |
|
probably benign |
Het |
Plekhg6 |
T |
A |
6: 125,352,755 (GRCm39) |
I131L |
possibly damaging |
Het |
Pnma8b |
T |
A |
7: 16,679,965 (GRCm39) |
D316E |
unknown |
Het |
Ppp4r3b |
T |
C |
11: 29,159,436 (GRCm39) |
Y597H |
possibly damaging |
Het |
Psmd2 |
T |
C |
16: 20,474,161 (GRCm39) |
V288A |
probably benign |
Het |
Slc6a15 |
T |
C |
10: 103,245,556 (GRCm39) |
V513A |
possibly damaging |
Het |
Smarcd3 |
G |
A |
5: 24,800,988 (GRCm39) |
R140W |
probably damaging |
Het |
Srrm4 |
T |
C |
5: 116,585,380 (GRCm39) |
R440G |
unknown |
Het |
Tpsg1 |
A |
T |
17: 25,592,241 (GRCm39) |
Y105F |
possibly damaging |
Het |
Trbv26 |
C |
A |
6: 41,204,693 (GRCm39) |
A38E |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,198,401 (GRCm39) |
N1488K |
probably damaging |
Het |
Vill |
A |
T |
9: 118,895,795 (GRCm39) |
R502S |
probably benign |
Het |
Zbed6 |
A |
T |
1: 133,584,754 (GRCm39) |
L861* |
probably null |
Het |
|
Other mutations in Hrnr |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00848:Hrnr
|
APN |
3 |
93,230,204 (GRCm39) |
missense |
unknown |
|
IGL02326:Hrnr
|
APN |
3 |
93,231,052 (GRCm39) |
missense |
unknown |
|
IGL03030:Hrnr
|
APN |
3 |
93,227,908 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL03281:Hrnr
|
APN |
3 |
93,230,158 (GRCm39) |
missense |
probably benign |
0.04 |
R0140:Hrnr
|
UTSW |
3 |
93,238,800 (GRCm39) |
nonsense |
probably null |
|
R0709:Hrnr
|
UTSW |
3 |
93,239,815 (GRCm39) |
missense |
unknown |
|
R1179:Hrnr
|
UTSW |
3 |
93,239,850 (GRCm39) |
missense |
unknown |
|
R1528:Hrnr
|
UTSW |
3 |
93,230,101 (GRCm39) |
missense |
possibly damaging |
0.56 |
R1640:Hrnr
|
UTSW |
3 |
93,239,823 (GRCm39) |
missense |
unknown |
|
R1987:Hrnr
|
UTSW |
3 |
93,239,911 (GRCm39) |
missense |
unknown |
|
R1988:Hrnr
|
UTSW |
3 |
93,239,911 (GRCm39) |
missense |
unknown |
|
R3846:Hrnr
|
UTSW |
3 |
93,239,464 (GRCm39) |
missense |
unknown |
|
R3871:Hrnr
|
UTSW |
3 |
93,239,181 (GRCm39) |
missense |
unknown |
|
R3938:Hrnr
|
UTSW |
3 |
93,230,162 (GRCm39) |
missense |
probably benign |
0.35 |
R4569:Hrnr
|
UTSW |
3 |
93,230,875 (GRCm39) |
missense |
unknown |
|
R4690:Hrnr
|
UTSW |
3 |
93,230,959 (GRCm39) |
missense |
unknown |
|
R4761:Hrnr
|
UTSW |
3 |
93,230,062 (GRCm39) |
missense |
probably damaging |
0.96 |
R5182:Hrnr
|
UTSW |
3 |
93,239,450 (GRCm39) |
missense |
unknown |
|
R5292:Hrnr
|
UTSW |
3 |
93,239,199 (GRCm39) |
missense |
unknown |
|
R5739:Hrnr
|
UTSW |
3 |
93,230,436 (GRCm39) |
missense |
unknown |
|
R5845:Hrnr
|
UTSW |
3 |
93,239,944 (GRCm39) |
missense |
unknown |
|
R5994:Hrnr
|
UTSW |
3 |
93,239,607 (GRCm39) |
missense |
unknown |
|
R6169:Hrnr
|
UTSW |
3 |
93,233,062 (GRCm39) |
nonsense |
probably null |
|
R6216:Hrnr
|
UTSW |
3 |
93,239,469 (GRCm39) |
missense |
unknown |
|
R6256:Hrnr
|
UTSW |
3 |
93,229,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R6670:Hrnr
|
UTSW |
3 |
93,239,192 (GRCm39) |
missense |
unknown |
|
R6790:Hrnr
|
UTSW |
3 |
93,236,382 (GRCm39) |
missense |
unknown |
|
R6936:Hrnr
|
UTSW |
3 |
93,239,667 (GRCm39) |
missense |
unknown |
|
R7049:Hrnr
|
UTSW |
3 |
93,230,461 (GRCm39) |
nonsense |
probably null |
|
R7358:Hrnr
|
UTSW |
3 |
93,230,448 (GRCm39) |
nonsense |
probably null |
|
R7383:Hrnr
|
UTSW |
3 |
93,239,098 (GRCm39) |
missense |
unknown |
|
R7724:Hrnr
|
UTSW |
3 |
93,230,323 (GRCm39) |
missense |
unknown |
|
R7762:Hrnr
|
UTSW |
3 |
93,239,506 (GRCm39) |
missense |
unknown |
|
R7945:Hrnr
|
UTSW |
3 |
93,239,506 (GRCm39) |
missense |
unknown |
|
R8086:Hrnr
|
UTSW |
3 |
93,230,728 (GRCm39) |
missense |
unknown |
|
R8115:Hrnr
|
UTSW |
3 |
93,231,039 (GRCm39) |
missense |
unknown |
|
R8383:Hrnr
|
UTSW |
3 |
93,239,653 (GRCm39) |
missense |
unknown |
|
R8809:Hrnr
|
UTSW |
3 |
93,239,443 (GRCm39) |
missense |
unknown |
|
R9123:Hrnr
|
UTSW |
3 |
93,238,863 (GRCm39) |
missense |
unknown |
|
R9125:Hrnr
|
UTSW |
3 |
93,238,863 (GRCm39) |
missense |
unknown |
|
R9129:Hrnr
|
UTSW |
3 |
93,231,277 (GRCm39) |
missense |
unknown |
|
R9572:Hrnr
|
UTSW |
3 |
93,239,467 (GRCm39) |
missense |
unknown |
|
R9627:Hrnr
|
UTSW |
3 |
93,233,235 (GRCm39) |
missense |
unknown |
|
R9698:Hrnr
|
UTSW |
3 |
93,233,094 (GRCm39) |
missense |
unknown |
|
R9717:Hrnr
|
UTSW |
3 |
93,227,987 (GRCm39) |
missense |
probably damaging |
1.00 |
R9749:Hrnr
|
UTSW |
3 |
93,231,384 (GRCm39) |
missense |
unknown |
|
R9781:Hrnr
|
UTSW |
3 |
93,239,696 (GRCm39) |
missense |
unknown |
|
R9785:Hrnr
|
UTSW |
3 |
93,238,861 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAAGATTACTGCCAAGCTTCAGG -3'
(R):5'- AACATTCGCCAGATCCTTTTGTAC -3'
Sequencing Primer
(F):5'- CTGCCAAGCTTCAGGGTCAAAG -3'
(R):5'- CCAGATCCTTTTGTACTGGAGCTAG -3'
|
Posted On |
2021-03-08 |