Incidental Mutation 'R6256:Hrnr'
ID |
506097 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hrnr
|
Ensembl Gene |
ENSMUSG00000041991 |
Gene Name |
hornerin |
Synonyms |
1110033K19Rik, A530063N20Rik, S100a18 |
MMRRC Submission |
044373-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6256 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
93227056-93240877 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93229918 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 52
(D52G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090856]
[ENSMUST00000093774]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000090856
AA Change: D52G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000088369 Gene: ENSMUSG00000041991 AA Change: D52G
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 |
probably damaging
Transcript: ENSMUST00000093774
AA Change: D52G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091288 Gene: ENSMUSG00000041991 AA Change: D52G
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000195137
|
Meta Mutation Damage Score |
0.1860 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
Validation Efficiency |
99% (74/75) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
A |
T |
8: 73,205,272 (GRCm39) |
Q361L |
probably damaging |
Het |
Abca7 |
A |
G |
10: 79,838,456 (GRCm39) |
T577A |
probably damaging |
Het |
Acad12 |
A |
T |
5: 121,752,149 (GRCm39) |
V54E |
probably benign |
Het |
Ago4 |
A |
G |
4: 126,414,019 (GRCm39) |
Y91H |
probably damaging |
Het |
Akr1b10 |
T |
C |
6: 34,364,623 (GRCm39) |
V28A |
probably damaging |
Het |
Ccdc33 |
T |
A |
9: 58,009,201 (GRCm39) |
|
probably null |
Het |
Ccdc7a |
T |
C |
8: 129,662,074 (GRCm39) |
|
probably null |
Het |
Ces1f |
A |
T |
8: 93,992,422 (GRCm39) |
V343E |
probably damaging |
Het |
Cftr |
T |
C |
6: 18,274,660 (GRCm39) |
L896P |
probably damaging |
Het |
Csmd3 |
G |
A |
15: 47,533,125 (GRCm39) |
P2375S |
probably damaging |
Het |
Dnajb14 |
C |
T |
3: 137,614,124 (GRCm39) |
A345V |
probably damaging |
Het |
Dnajb14 |
G |
C |
3: 137,614,123 (GRCm39) |
A345P |
probably damaging |
Het |
Dnase1 |
G |
A |
16: 3,855,485 (GRCm39) |
R24K |
probably benign |
Het |
Dnmbp |
C |
T |
19: 43,840,720 (GRCm39) |
V560M |
probably damaging |
Het |
Dop1b |
T |
A |
16: 93,604,102 (GRCm39) |
I1981N |
possibly damaging |
Het |
Eif3a |
A |
C |
19: 60,759,464 (GRCm39) |
S770A |
possibly damaging |
Het |
Fbxl7 |
A |
T |
15: 26,553,088 (GRCm39) |
C60S |
probably benign |
Het |
Fras1 |
A |
T |
5: 96,881,702 (GRCm39) |
D2478V |
possibly damaging |
Het |
Jmjd1c |
T |
A |
10: 67,056,187 (GRCm39) |
L823M |
probably damaging |
Het |
Kdm1a |
G |
T |
4: 136,295,911 (GRCm39) |
C172* |
probably null |
Het |
Kdm6b |
C |
T |
11: 69,297,555 (GRCm39) |
E295K |
probably damaging |
Het |
Mepe |
A |
T |
5: 104,484,940 (GRCm39) |
M27L |
probably benign |
Het |
Mogat2 |
A |
T |
7: 98,869,102 (GRCm39) |
H305Q |
probably damaging |
Het |
Mst1r |
T |
A |
9: 107,794,465 (GRCm39) |
Y1215N |
probably damaging |
Het |
Muc5ac |
A |
T |
7: 141,343,532 (GRCm39) |
H48L |
possibly damaging |
Het |
Myo7b |
T |
C |
18: 32,116,748 (GRCm39) |
D953G |
probably damaging |
Het |
Ocel1 |
T |
C |
8: 71,824,472 (GRCm39) |
|
probably benign |
Het |
Pcdhb6 |
A |
G |
18: 37,468,978 (GRCm39) |
D633G |
probably damaging |
Het |
Ppm1l |
A |
G |
3: 69,405,230 (GRCm39) |
I176V |
probably benign |
Het |
Sall3 |
C |
T |
18: 81,013,076 (GRCm39) |
R1120H |
possibly damaging |
Het |
Sbf1 |
G |
A |
15: 89,185,070 (GRCm39) |
P1018S |
probably benign |
Het |
Setbp1 |
T |
C |
18: 78,900,472 (GRCm39) |
Y1065C |
probably damaging |
Het |
Slc25a2 |
T |
C |
18: 37,770,776 (GRCm39) |
|
probably null |
Het |
Slc4a2 |
C |
A |
5: 24,640,888 (GRCm39) |
T729K |
probably damaging |
Het |
Sptlc2 |
T |
C |
12: 87,402,305 (GRCm39) |
E207G |
probably damaging |
Het |
Sult6b1 |
A |
T |
17: 79,214,343 (GRCm39) |
F27I |
probably benign |
Het |
Syf2 |
A |
T |
4: 134,661,889 (GRCm39) |
K84N |
probably damaging |
Het |
Tmem209 |
A |
T |
6: 30,497,166 (GRCm39) |
N183K |
probably benign |
Het |
Tmem232 |
G |
T |
17: 65,785,397 (GRCm39) |
Q188K |
possibly damaging |
Het |
Tomm70a |
A |
T |
16: 56,973,055 (GRCm39) |
T598S |
probably benign |
Het |
Ttll13 |
A |
G |
7: 79,908,052 (GRCm39) |
T556A |
probably benign |
Het |
Vmn2r120 |
A |
T |
17: 57,831,700 (GRCm39) |
L363* |
probably null |
Het |
Xpo6 |
G |
T |
7: 125,707,791 (GRCm39) |
Q872K |
probably damaging |
Het |
Xrra1 |
A |
C |
7: 99,563,671 (GRCm39) |
S553R |
probably damaging |
Het |
Zfy1 |
A |
T |
Y: 738,765 (GRCm39) |
V147E |
unknown |
Homo |
Zfy2 |
T |
C |
Y: 2,116,267 (GRCm39) |
I258V |
probably benign |
Homo |
|
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 |
|
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 |
|
R8685:Hrnr
|
UTSW |
3 |
93,230,205 (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'- GCTAACAGGCCAACTTGCTC -3'
(R):5'- TGAGCCCCTGGAATAAGAGTC -3'
Sequencing Primer
(F):5'- AACAGGCCAACTTGCTCCTCTC -3'
(R):5'- GAGCCCCTGGAATAAGAGTCATTCTC -3'
|
Posted On |
2018-02-28 |