Incidental Mutation 'R8005:Ano4'
| ID |
616578 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ano4
|
| Ensembl Gene |
ENSMUSG00000035189 |
| Gene Name |
anoctamin 4 |
| Synonyms |
Tmem16d, A330096O15Rik |
| MMRRC Submission |
046045-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8005 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
88784856-89180624 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88807183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 799
(L799F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138193
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000182341]
[ENSMUST00000182462]
[ENSMUST00000182613]
[ENSMUST00000182790]
|
| AlphaFold |
Q8C5H1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182341
AA Change: L799F
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000138193
Gene: ENSMUSG00000035189
AA Change: L799F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
339 |
922 |
4.8e-162 |
PFAM |
|
low complexity region
|
932 |
945 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182462
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182613
AA Change: L764F
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000138268
Gene: ENSMUSG00000035189
AA Change: L764F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
|
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182790
AA Change: L764F
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000138325
Gene: ENSMUSG00000035189
AA Change: L764F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Anoctamin
|
304 |
887 |
3.6e-162 |
PFAM |
|
low complexity region
|
897 |
910 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(1) : Targeted(1)
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot1 |
A |
G |
12: 84,063,774 (GRCm39) |
D294G |
probably benign |
Het |
| Ak8 |
A |
T |
2: 28,602,314 (GRCm39) |
S83C |
probably benign |
Het |
| Ankrd34b |
C |
A |
13: 92,575,230 (GRCm39) |
A154E |
possibly damaging |
Het |
| Anks1 |
A |
G |
17: 28,278,341 (GRCm39) |
D1175G |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,135,470 (GRCm39) |
|
probably null |
Het |
| Apob |
A |
T |
12: 8,059,744 (GRCm39) |
H2742L |
probably benign |
Het |
| Apol7e |
C |
T |
15: 77,602,277 (GRCm39) |
Q292* |
probably null |
Het |
| Atp2b1 |
G |
A |
10: 98,830,661 (GRCm39) |
G374D |
probably damaging |
Het |
| B4galt5 |
A |
G |
2: 167,143,384 (GRCm39) |
S347P |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,882,456 (GRCm39) |
T620A |
probably benign |
Het |
| Bco2 |
T |
A |
9: 50,450,213 (GRCm39) |
D329V |
probably damaging |
Het |
| Cd200l2 |
T |
C |
16: 45,352,400 (GRCm39) |
|
probably benign |
Het |
| Cemip |
C |
A |
7: 83,652,616 (GRCm39) |
|
probably benign |
Het |
| Copg2 |
T |
A |
6: 30,873,632 (GRCm39) |
M1L |
possibly damaging |
Het |
| D430041D05Rik |
G |
A |
2: 104,088,599 (GRCm39) |
H164Y |
possibly damaging |
Het |
| Dscaml1 |
G |
T |
9: 45,628,808 (GRCm39) |
G1121C |
probably damaging |
Het |
| Gas2l1 |
A |
T |
11: 5,011,552 (GRCm39) |
S426T |
probably benign |
Het |
| Gm9195 |
T |
A |
14: 72,663,840 (GRCm39) |
I2740F |
probably benign |
Het |
| Irgm1 |
A |
G |
11: 48,757,217 (GRCm39) |
I214T |
probably damaging |
Het |
| Kbtbd3 |
C |
T |
9: 4,330,655 (GRCm39) |
T343I |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Ly75 |
A |
T |
2: 60,163,278 (GRCm39) |
Y804N |
probably damaging |
Het |
| Mgat2 |
A |
G |
12: 69,232,722 (GRCm39) |
H432R |
probably damaging |
Het |
| Nsrp1 |
A |
T |
11: 76,936,612 (GRCm39) |
M528K |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,576,006 (GRCm39) |
I162V |
probably benign |
Het |
| Obsl1 |
T |
A |
1: 75,482,096 (GRCm39) |
N258I |
probably damaging |
Het |
| Or1j4 |
A |
G |
2: 36,740,156 (GRCm39) |
T33A |
probably benign |
Het |
| Or2y1b |
G |
T |
11: 49,208,968 (GRCm39) |
M198I |
probably benign |
Het |
| Or5p6 |
T |
C |
7: 107,631,470 (GRCm39) |
R27G |
possibly damaging |
Het |
| Or5p73 |
T |
C |
7: 108,064,693 (GRCm39) |
V54A |
probably benign |
Het |
| Pax2 |
G |
A |
19: 44,749,328 (GRCm39) |
V20M |
probably damaging |
Het |
| Pigb |
A |
T |
9: 72,922,546 (GRCm39) |
M13K |
unknown |
Het |
| Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
| Pik3c2a |
T |
C |
7: 116,017,271 (GRCm39) |
Y162C |
probably damaging |
Het |
| Pik3c2g |
A |
T |
6: 139,599,067 (GRCm39) |
D61V |
probably benign |
Het |
| Plscr4 |
C |
T |
9: 92,372,843 (GRCm39) |
R322* |
probably null |
Het |
| Pramel17 |
A |
G |
4: 101,694,448 (GRCm39) |
V145A |
probably damaging |
Het |
| Prss46 |
A |
G |
9: 110,685,144 (GRCm39) |
D256G |
probably benign |
Het |
| Rims1 |
G |
T |
1: 22,482,437 (GRCm39) |
D196E |
|
Het |
| Sbf1 |
A |
G |
15: 89,178,408 (GRCm39) |
L1498P |
probably damaging |
Het |
| Sh2b1 |
T |
C |
7: 126,068,479 (GRCm39) |
D444G |
possibly damaging |
Het |
| Slc7a15 |
T |
G |
12: 8,589,395 (GRCm39) |
M51L |
probably damaging |
Het |
| Slitrk1 |
T |
C |
14: 109,150,697 (GRCm39) |
I5V |
probably benign |
Het |
| Spart |
T |
A |
3: 55,024,773 (GRCm39) |
C123S |
probably benign |
Het |
| Sry |
C |
T |
Y: 2,663,303 (GRCm39) |
R119K |
possibly damaging |
Het |
| Tasor2 |
C |
T |
13: 3,625,681 (GRCm39) |
S1423N |
probably benign |
Het |
| Tbcc |
T |
C |
17: 47,201,686 (GRCm39) |
V24A |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,872,684 (GRCm39) |
M331L |
possibly damaging |
Het |
| Thnsl1 |
A |
G |
2: 21,216,755 (GRCm39) |
I170V |
probably benign |
Het |
| Ticrr |
T |
G |
7: 79,343,796 (GRCm39) |
S1220R |
probably damaging |
Het |
| Tmem262 |
T |
C |
19: 6,130,507 (GRCm39) |
M77T |
possibly damaging |
Het |
| Tmem67 |
A |
G |
4: 12,047,821 (GRCm39) |
S771P |
probably damaging |
Het |
| Tsc2 |
G |
A |
17: 24,818,570 (GRCm39) |
A1423V |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,139,941 (GRCm39) |
Y1175N |
probably damaging |
Het |
| Usp25 |
G |
A |
16: 76,873,956 (GRCm39) |
A511T |
probably benign |
Het |
| Vmn2r115 |
T |
A |
17: 23,563,124 (GRCm39) |
Y58* |
probably null |
Het |
| Wt1 |
T |
C |
2: 104,957,789 (GRCm39) |
|
probably null |
Het |
| Zfp735 |
A |
T |
11: 73,603,140 (GRCm39) |
K695* |
probably null |
Het |
| Zkscan14 |
A |
G |
5: 145,132,568 (GRCm39) |
F321S |
possibly damaging |
Het |
| Zswim9 |
T |
C |
7: 12,995,064 (GRCm39) |
E364G |
probably damaging |
Het |
|
| Other mutations in Ano4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00642:Ano4
|
APN |
10 |
88,790,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00916:Ano4
|
APN |
10 |
88,833,960 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01010:Ano4
|
APN |
10 |
88,796,462 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01015:Ano4
|
APN |
10 |
88,870,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01877:Ano4
|
APN |
10 |
88,860,932 (GRCm39) |
nonsense |
probably null |
0.00 |
|
IGL02310:Ano4
|
APN |
10 |
88,859,740 (GRCm39) |
nonsense |
probably null |
|
|
IGL02390:Ano4
|
APN |
10 |
88,860,843 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02560:Ano4
|
APN |
10 |
88,814,603 (GRCm39) |
nonsense |
probably null |
|
|
Dwindle
|
UTSW |
10 |
88,819,640 (GRCm39) |
missense |
probably damaging |
0.98 |
|
BB007:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
BB017:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
P0017:Ano4
|
UTSW |
10 |
88,817,052 (GRCm39) |
nonsense |
probably null |
|
|
PIT4486001:Ano4
|
UTSW |
10 |
88,828,891 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Ano4
|
UTSW |
10 |
88,788,154 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0380:Ano4
|
UTSW |
10 |
88,814,675 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0508:Ano4
|
UTSW |
10 |
88,816,839 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0540:Ano4
|
UTSW |
10 |
88,859,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1802:Ano4
|
UTSW |
10 |
88,816,878 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Ano4
|
UTSW |
10 |
88,807,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1871:Ano4
|
UTSW |
10 |
88,828,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2829:Ano4
|
UTSW |
10 |
88,948,801 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R2880:Ano4
|
UTSW |
10 |
88,948,661 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3846:Ano4
|
UTSW |
10 |
88,831,114 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3904:Ano4
|
UTSW |
10 |
88,860,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4006:Ano4
|
UTSW |
10 |
88,924,125 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4429:Ano4
|
UTSW |
10 |
88,828,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4547:Ano4
|
UTSW |
10 |
88,817,032 (GRCm39) |
missense |
probably null |
|
|
R4638:Ano4
|
UTSW |
10 |
88,790,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4640:Ano4
|
UTSW |
10 |
88,790,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4876:Ano4
|
UTSW |
10 |
88,948,697 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5007:Ano4
|
UTSW |
10 |
88,948,807 (GRCm39) |
missense |
probably benign |
0.26 |
|
R5104:Ano4
|
UTSW |
10 |
88,903,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5151:Ano4
|
UTSW |
10 |
88,948,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Ano4
|
UTSW |
10 |
89,153,165 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5396:Ano4
|
UTSW |
10 |
88,948,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5826:Ano4
|
UTSW |
10 |
88,788,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Ano4
|
UTSW |
10 |
88,865,128 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6036:Ano4
|
UTSW |
10 |
88,818,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6036:Ano4
|
UTSW |
10 |
88,818,127 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6037:Ano4
|
UTSW |
10 |
89,153,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6037:Ano4
|
UTSW |
10 |
89,153,108 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6222:Ano4
|
UTSW |
10 |
88,863,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6387:Ano4
|
UTSW |
10 |
88,807,267 (GRCm39) |
nonsense |
probably null |
|
|
R6521:Ano4
|
UTSW |
10 |
88,819,640 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6739:Ano4
|
UTSW |
10 |
88,863,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6786:Ano4
|
UTSW |
10 |
88,828,732 (GRCm39) |
splice site |
probably null |
|
|
R7035:Ano4
|
UTSW |
10 |
88,790,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7523:Ano4
|
UTSW |
10 |
88,807,257 (GRCm39) |
nonsense |
probably null |
|
|
R7715:Ano4
|
UTSW |
10 |
88,831,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7930:Ano4
|
UTSW |
10 |
89,163,138 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7955:Ano4
|
UTSW |
10 |
88,831,088 (GRCm39) |
missense |
probably null |
0.45 |
|
R7975:Ano4
|
UTSW |
10 |
88,952,847 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8024:Ano4
|
UTSW |
10 |
88,807,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8168:Ano4
|
UTSW |
10 |
88,816,857 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8190:Ano4
|
UTSW |
10 |
88,808,607 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8206:Ano4
|
UTSW |
10 |
88,860,958 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8252:Ano4
|
UTSW |
10 |
88,816,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8285:Ano4
|
UTSW |
10 |
88,904,079 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8917:Ano4
|
UTSW |
10 |
88,788,160 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9302:Ano4
|
UTSW |
10 |
88,831,220 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9688:Ano4
|
UTSW |
10 |
89,180,506 (GRCm39) |
start codon destroyed |
probably null |
0.02 |
|
T0970:Ano4
|
UTSW |
10 |
88,817,052 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Ano4
|
UTSW |
10 |
88,948,807 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCCAACCCTTTGCTAAATAG -3'
(R):5'- ACAGGTGGATTCATCTTGCTG -3'
Sequencing Primer
(F):5'- CCAACCCTTTGCTAAATAGGATGTG -3'
(R):5'- GTTTTCATTCTCACTACGCCTGGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation