Incidental Mutation 'R4961:Ano8'
| ID |
381767 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano8
|
| Ensembl Gene |
ENSMUSG00000034863 |
| Gene Name |
anoctamin 8 |
| Synonyms |
Tmem16h |
| MMRRC Submission |
042558-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4961 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
71928663-71938607 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 71935640 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 326
(P326R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091157
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093450]
[ENSMUST00000213382]
|
| AlphaFold |
Q6PB70 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093450
AA Change: P326R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091157
Gene: ENSMUSG00000034863
AA Change: P326R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
14 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
84 |
N/A |
INTRINSIC |
|
Pfam:Anoctamin
|
237 |
874 |
3e-149 |
PFAM |
|
coiled coil region
|
881 |
919 |
N/A |
INTRINSIC |
|
low complexity region
|
948 |
964 |
N/A |
INTRINSIC |
|
low complexity region
|
974 |
988 |
N/A |
INTRINSIC |
|
low complexity region
|
1042 |
1056 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212768
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213016
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213382
AA Change: P326R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.4114 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 88.3%
|
| Validation Efficiency |
95% (62/65) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082I17Rik |
T |
C |
5: 139,349,855 (GRCm39) |
K65E |
probably damaging |
Het |
| Acp5 |
C |
A |
9: 22,041,233 (GRCm39) |
A65S |
probably benign |
Het |
| Adad2 |
G |
A |
8: 120,342,397 (GRCm39) |
R345H |
probably damaging |
Het |
| Adamts7 |
G |
T |
9: 90,067,793 (GRCm39) |
G428W |
probably damaging |
Het |
| Amy1 |
A |
G |
3: 113,355,498 (GRCm39) |
S326P |
probably damaging |
Het |
| Ankrd44 |
C |
T |
1: 54,703,071 (GRCm39) |
D482N |
probably damaging |
Het |
| Anks6 |
C |
T |
4: 47,030,795 (GRCm39) |
G601S |
probably damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,367,046 (GRCm39) |
E793G |
probably damaging |
Het |
| Cd9 |
A |
T |
6: 125,440,703 (GRCm39) |
V96E |
probably damaging |
Het |
| Cdh9 |
A |
G |
15: 16,850,914 (GRCm39) |
N561S |
probably benign |
Het |
| Col16a1 |
G |
A |
4: 129,948,272 (GRCm39) |
|
probably null |
Het |
| Cpne7 |
G |
A |
8: 123,860,498 (GRCm39) |
G484R |
probably damaging |
Het |
| Dcun1d4 |
A |
T |
5: 73,701,463 (GRCm39) |
K194* |
probably null |
Het |
| Dock3 |
A |
G |
9: 106,818,515 (GRCm39) |
V1193A |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,007,904 (GRCm39) |
R113G |
possibly damaging |
Het |
| Epha5 |
A |
T |
5: 84,381,502 (GRCm39) |
S450T |
probably damaging |
Het |
| Gm5581 |
A |
T |
6: 131,144,190 (GRCm39) |
|
noncoding transcript |
Het |
| Grhl3 |
A |
G |
4: 135,279,918 (GRCm39) |
Y379H |
probably damaging |
Het |
| Herpud1 |
T |
C |
8: 95,117,454 (GRCm39) |
S13P |
probably benign |
Het |
| Jam2 |
C |
T |
16: 84,606,435 (GRCm39) |
Q150* |
probably null |
Het |
| Jph2 |
C |
G |
2: 163,217,668 (GRCm39) |
R336P |
probably damaging |
Het |
| Kansl3 |
T |
A |
1: 36,387,764 (GRCm39) |
|
probably null |
Het |
| Kctd1 |
G |
A |
18: 15,195,580 (GRCm39) |
P348S |
probably damaging |
Het |
| Klhl30 |
T |
A |
1: 91,285,106 (GRCm39) |
S321T |
possibly damaging |
Het |
| Klhl5 |
T |
C |
5: 65,310,033 (GRCm39) |
|
probably benign |
Het |
| Letm2 |
T |
C |
8: 26,084,108 (GRCm39) |
H41R |
possibly damaging |
Het |
| Ltn1 |
A |
T |
16: 87,194,679 (GRCm39) |
C1407S |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,572,161 (GRCm39) |
T187A |
probably damaging |
Het |
| Marveld2 |
T |
C |
13: 100,748,431 (GRCm39) |
N216S |
probably benign |
Het |
| Matn1 |
A |
G |
4: 130,680,234 (GRCm39) |
Y437C |
probably damaging |
Het |
| Oas1h |
T |
C |
5: 121,009,159 (GRCm39) |
Y290H |
probably damaging |
Het |
| Ofcc1 |
A |
G |
13: 40,417,035 (GRCm39) |
|
probably null |
Het |
| Or2m12 |
C |
A |
16: 19,104,726 (GRCm39) |
G256W |
probably damaging |
Het |
| Or4k51 |
A |
T |
2: 111,584,750 (GRCm39) |
D52V |
probably damaging |
Het |
| Or8g34 |
A |
G |
9: 39,373,183 (GRCm39) |
Y152C |
probably damaging |
Het |
| Otof |
C |
A |
5: 30,540,837 (GRCm39) |
|
probably benign |
Het |
| Pcdh15 |
G |
T |
10: 74,215,249 (GRCm39) |
|
probably null |
Het |
| Pgk2 |
G |
A |
17: 40,518,412 (GRCm39) |
P339S |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,186,032 (GRCm39) |
|
probably null |
Het |
| Prex2 |
A |
G |
1: 11,168,705 (GRCm39) |
T234A |
possibly damaging |
Het |
| Rasgrf1 |
C |
T |
9: 89,826,922 (GRCm39) |
T177M |
probably benign |
Het |
| Rgs1 |
A |
T |
1: 144,124,309 (GRCm39) |
|
probably null |
Het |
| Snx25 |
T |
C |
8: 46,521,229 (GRCm39) |
N239S |
probably damaging |
Het |
| Spata31d1a |
T |
A |
13: 59,849,716 (GRCm39) |
H804L |
possibly damaging |
Het |
| Spon2 |
A |
T |
5: 33,371,896 (GRCm39) |
Y303* |
probably null |
Het |
| Spopfm2 |
A |
T |
3: 94,082,841 (GRCm39) |
C323* |
probably null |
Het |
| Thrb |
G |
A |
14: 18,011,076 (GRCm38) |
D151N |
probably benign |
Het |
| Tns1 |
A |
G |
1: 73,975,074 (GRCm39) |
V1170A |
probably benign |
Het |
| Trbv19 |
A |
T |
6: 41,155,706 (GRCm39) |
I26F |
probably damaging |
Het |
| Tstd2 |
T |
C |
4: 46,120,467 (GRCm39) |
N311S |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,715,746 (GRCm39) |
|
probably benign |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Vmn1r185 |
G |
A |
7: 26,310,716 (GRCm39) |
A263V |
probably benign |
Het |
| Zfp316 |
T |
C |
5: 143,239,169 (GRCm39) |
H950R |
probably damaging |
Het |
| Zfp51 |
A |
G |
17: 21,676,615 (GRCm39) |
K29E |
probably benign |
Het |
| Zfp644 |
T |
C |
5: 106,766,081 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ano8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Ano8
|
APN |
8 |
71,936,902 (GRCm39) |
splice site |
probably benign |
|
|
IGL00501:Ano8
|
APN |
8 |
71,931,793 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01380:Ano8
|
APN |
8 |
71,933,453 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02138:Ano8
|
APN |
8 |
71,937,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02516:Ano8
|
APN |
8 |
71,937,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02675:Ano8
|
APN |
8 |
71,936,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02995:Ano8
|
APN |
8 |
71,935,761 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
H8786:Ano8
|
UTSW |
8 |
71,931,388 (GRCm39) |
unclassified |
probably benign |
|
|
R0265:Ano8
|
UTSW |
8 |
71,933,168 (GRCm39) |
unclassified |
probably benign |
|
|
R0282:Ano8
|
UTSW |
8 |
71,933,258 (GRCm39) |
unclassified |
probably benign |
|
|
R0518:Ano8
|
UTSW |
8 |
71,931,902 (GRCm39) |
missense |
probably benign |
0.39 |
|
R0521:Ano8
|
UTSW |
8 |
71,931,902 (GRCm39) |
missense |
probably benign |
0.39 |
|
R1028:Ano8
|
UTSW |
8 |
71,933,615 (GRCm39) |
small deletion |
probably benign |
|
|
R1147:Ano8
|
UTSW |
8 |
71,934,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Ano8
|
UTSW |
8 |
71,934,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1748:Ano8
|
UTSW |
8 |
71,931,602 (GRCm39) |
unclassified |
probably benign |
|
|
R1852:Ano8
|
UTSW |
8 |
71,936,131 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4161:Ano8
|
UTSW |
8 |
71,935,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4192:Ano8
|
UTSW |
8 |
71,935,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4274:Ano8
|
UTSW |
8 |
71,931,385 (GRCm39) |
unclassified |
probably benign |
|
|
R4834:Ano8
|
UTSW |
8 |
71,936,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5252:Ano8
|
UTSW |
8 |
71,935,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5553:Ano8
|
UTSW |
8 |
71,937,641 (GRCm39) |
splice site |
probably null |
|
|
R5598:Ano8
|
UTSW |
8 |
71,935,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5695:Ano8
|
UTSW |
8 |
71,935,887 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5994:Ano8
|
UTSW |
8 |
71,937,478 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6019:Ano8
|
UTSW |
8 |
71,935,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6153:Ano8
|
UTSW |
8 |
71,933,441 (GRCm39) |
unclassified |
probably benign |
|
|
R6405:Ano8
|
UTSW |
8 |
71,935,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6516:Ano8
|
UTSW |
8 |
71,934,424 (GRCm39) |
splice site |
probably null |
|
|
R6539:Ano8
|
UTSW |
8 |
71,937,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7194:Ano8
|
UTSW |
8 |
71,935,007 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7204:Ano8
|
UTSW |
8 |
71,931,669 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7340:Ano8
|
UTSW |
8 |
71,935,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7365:Ano8
|
UTSW |
8 |
71,937,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7417:Ano8
|
UTSW |
8 |
71,933,477 (GRCm39) |
missense |
unknown |
|
|
R7486:Ano8
|
UTSW |
8 |
71,937,642 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7644:Ano8
|
UTSW |
8 |
71,937,474 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7709:Ano8
|
UTSW |
8 |
71,934,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7719:Ano8
|
UTSW |
8 |
71,935,784 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8040:Ano8
|
UTSW |
8 |
71,934,812 (GRCm39) |
missense |
probably benign |
0.26 |
|
R8219:Ano8
|
UTSW |
8 |
71,933,357 (GRCm39) |
missense |
unknown |
|
|
R8355:Ano8
|
UTSW |
8 |
71,933,210 (GRCm39) |
unclassified |
probably benign |
|
|
R8401:Ano8
|
UTSW |
8 |
71,936,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8713:Ano8
|
UTSW |
8 |
71,937,721 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8755:Ano8
|
UTSW |
8 |
71,935,724 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8871:Ano8
|
UTSW |
8 |
71,931,944 (GRCm39) |
missense |
probably benign |
0.39 |
|
R8903:Ano8
|
UTSW |
8 |
71,934,834 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8990:Ano8
|
UTSW |
8 |
71,929,201 (GRCm39) |
missense |
unknown |
|
|
R9037:Ano8
|
UTSW |
8 |
71,937,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9379:Ano8
|
UTSW |
8 |
71,936,178 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9432:Ano8
|
UTSW |
8 |
71,933,561 (GRCm39) |
missense |
unknown |
|
|
R9492:Ano8
|
UTSW |
8 |
71,934,784 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R9609:Ano8
|
UTSW |
8 |
71,933,726 (GRCm39) |
missense |
unknown |
|
|
X0026:Ano8
|
UTSW |
8 |
71,931,801 (GRCm39) |
unclassified |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCCACAAACTTCTCTGAC -3'
(R):5'- GATCAGGTACTAGGAAGCGC -3'
Sequencing Primer
(F):5'- AACTTCTCTGACGTTACCTAACTAG -3'
(R):5'- CCATAATCTGGCTATGTCGATGAC -3'
|
| Posted On |
2016-04-27 |
Incidental Mutation