Incidental Mutation 'R7049:Hrnr'
ID |
547475 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Hrnr
|
Ensembl Gene |
ENSMUSG00000041991 |
Gene Name |
hornerin |
Synonyms |
1110033K19Rik, A530063N20Rik, S100a18 |
MMRRC Submission |
045147-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7049 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
93227056-93240877 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to A
at 93230461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 233
(S233*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091288
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000090856]
[ENSMUST00000093774]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000090856
AA Change: S233*
|
SMART Domains |
Protein: ENSMUSP00000088369 Gene: ENSMUSG00000041991 AA Change: S233*
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 null
Transcript: ENSMUST00000093774
AA Change: S233*
|
SMART Domains |
Protein: ENSMUSP00000091288 Gene: ENSMUSG00000041991 AA Change: S233*
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (46/46) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,941,497 (GRCm39) |
V447A |
probably benign |
Het |
Adam6b |
A |
G |
12: 113,454,122 (GRCm39) |
D313G |
probably damaging |
Het |
Adcy10 |
G |
T |
1: 165,367,443 (GRCm39) |
C571F |
probably damaging |
Het |
Anxa1 |
A |
G |
19: 20,352,635 (GRCm39) |
V313A |
probably benign |
Het |
Bpifb6 |
A |
T |
2: 153,750,733 (GRCm39) |
|
probably null |
Het |
Cacna1c |
C |
A |
6: 118,578,124 (GRCm39) |
C1713F |
probably benign |
Het |
Cep135 |
A |
G |
5: 76,754,585 (GRCm39) |
N354S |
probably benign |
Het |
Cers2 |
A |
G |
3: 95,228,965 (GRCm39) |
D200G |
probably damaging |
Het |
Cpne1 |
A |
G |
2: 155,920,727 (GRCm39) |
L133P |
probably damaging |
Het |
Ddhd1 |
A |
G |
14: 45,840,138 (GRCm39) |
Y16H |
probably damaging |
Het |
Depp1 |
T |
C |
6: 116,629,254 (GRCm39) |
L199P |
probably damaging |
Het |
Fastkd2 |
T |
C |
1: 63,771,009 (GRCm39) |
F122L |
probably benign |
Het |
Fastkd5 |
A |
T |
2: 130,457,431 (GRCm39) |
D386E |
probably damaging |
Het |
Gm5134 |
T |
A |
10: 75,828,292 (GRCm39) |
C291S |
probably damaging |
Het |
Gria2 |
T |
C |
3: 80,596,634 (GRCm39) |
S811G |
probably damaging |
Het |
Hcn1 |
C |
T |
13: 118,111,998 (GRCm39) |
P654L |
unknown |
Het |
Hspa5 |
C |
T |
2: 34,663,204 (GRCm39) |
P127L |
probably damaging |
Het |
Itgal |
A |
T |
7: 126,895,573 (GRCm39) |
|
probably benign |
Het |
L3mbtl4 |
G |
T |
17: 68,768,561 (GRCm39) |
R223L |
probably benign |
Het |
Mical1 |
A |
G |
10: 41,358,246 (GRCm39) |
R420G |
possibly damaging |
Het |
Mllt6 |
T |
A |
11: 97,564,637 (GRCm39) |
L481Q |
probably damaging |
Het |
Mtdh |
T |
A |
15: 34,131,311 (GRCm39) |
N174K |
probably damaging |
Het |
Nhsl1 |
A |
G |
10: 18,407,386 (GRCm39) |
M1507V |
probably damaging |
Het |
Npm3 |
A |
T |
19: 45,737,994 (GRCm39) |
M1K |
probably null |
Het |
Or1e21 |
C |
T |
11: 73,344,430 (GRCm39) |
G203R |
probably damaging |
Het |
Pold1 |
A |
T |
7: 44,190,795 (GRCm39) |
W290R |
possibly damaging |
Het |
Prss52 |
C |
T |
14: 64,350,021 (GRCm39) |
T216I |
probably damaging |
Het |
Psme4 |
T |
C |
11: 30,763,904 (GRCm39) |
|
probably null |
Het |
Pwwp2a |
T |
A |
11: 43,597,018 (GRCm39) |
F453I |
probably damaging |
Het |
Rttn |
A |
G |
18: 89,082,340 (GRCm39) |
N1422S |
probably damaging |
Het |
Scaf4 |
A |
C |
16: 90,057,075 (GRCm39) |
I92R |
unknown |
Het |
Slc12a1 |
A |
G |
2: 125,013,177 (GRCm39) |
K345E |
probably benign |
Het |
Slc22a28 |
A |
T |
19: 8,049,270 (GRCm39) |
N326K |
probably benign |
Het |
Smgc |
A |
G |
15: 91,744,576 (GRCm39) |
E311G |
possibly damaging |
Het |
Snx7 |
C |
T |
3: 117,633,680 (GRCm39) |
R90H |
possibly damaging |
Het |
Tex101 |
A |
G |
7: 24,367,683 (GRCm39) |
I223T |
probably benign |
Het |
Tnik |
A |
T |
3: 28,715,853 (GRCm39) |
K1093* |
probably null |
Het |
Tnxb |
T |
G |
17: 34,936,242 (GRCm39) |
|
probably null |
Het |
Trio |
T |
C |
15: 27,749,885 (GRCm39) |
N2272S |
possibly damaging |
Het |
Tubal3 |
T |
C |
13: 3,982,756 (GRCm39) |
Y179H |
probably damaging |
Het |
Vmn2r4 |
C |
T |
3: 64,296,550 (GRCm39) |
G745D |
probably benign |
Het |
Vps9d1 |
A |
T |
8: 123,973,882 (GRCm39) |
Y300* |
probably null |
Het |
Zfp646 |
T |
A |
7: 127,479,199 (GRCm39) |
C459S |
possibly damaging |
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 |
|
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'- ACAAGGCCAGCATGAATCAG -3'
(R):5'- TGACTGTCCAGAGTAGGAACC -3'
Sequencing Primer
(F):5'- GGCCAGCATGAATCAGGATTTTC -3'
(R):5'- TTCGACCAGATCCATGTGTAAAGC -3'
|
Posted On |
2019-05-13 |