Incidental Mutation 'R6164:Sag'
| ID |
490017 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sag
|
| Ensembl Gene |
ENSMUSG00000056055 |
| Gene Name |
S-antigen, retina and pineal gland (arrestin) |
| Synonyms |
arrestin 1, rod arrestin, Arr1, visual arrestin 1, A930001K18Rik |
| MMRRC Submission |
044310-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6164 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
87731402-87772880 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 87752175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 223
(V223L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136729
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077772]
[ENSMUST00000177757]
|
| AlphaFold |
P20443 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077772
AA Change: V223L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000076948
Gene: ENSMUSG00000056055
AA Change: V223L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
23 |
181 |
2.8e-36 |
PFAM |
|
Arrestin_C
|
200 |
361 |
8.24e-30 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130886
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144334
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145385
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155393
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000177757
AA Change: V223L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136729
Gene: ENSMUSG00000056055
AA Change: V223L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arrestin_N
|
23 |
181 |
2.7e-34 |
PFAM |
|
Arrestin_C
|
200 |
361 |
8.24e-30 |
SMART |
|
| Meta Mutation Damage Score |
0.3516 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
98% (61/62) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormalities in retinal rod cell outer segment morphology and rod electrophysiology. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
A |
G |
7: 79,491,953 (GRCm39) |
I16T |
possibly damaging |
Het |
| Ap1s1 |
T |
C |
5: 137,066,240 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
T |
C |
1: 172,106,459 (GRCm39) |
S848G |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,608,389 (GRCm39) |
I346F |
possibly damaging |
Het |
| Ccdc148 |
T |
A |
2: 58,713,645 (GRCm39) |
Y502F |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,919,642 (GRCm39) |
M416V |
probably damaging |
Het |
| Cdk17 |
T |
C |
10: 93,071,331 (GRCm39) |
S351P |
probably benign |
Het |
| Cfap100 |
T |
C |
6: 90,392,768 (GRCm39) |
E114G |
probably benign |
Het |
| Clec4a4 |
T |
C |
6: 122,968,833 (GRCm39) |
I66T |
possibly damaging |
Het |
| Cpeb4 |
T |
C |
11: 31,870,584 (GRCm39) |
|
probably null |
Het |
| Cybrd1 |
T |
C |
2: 70,948,618 (GRCm39) |
V52A |
probably damaging |
Het |
| Decr1 |
G |
A |
4: 15,924,347 (GRCm39) |
A191V |
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,378,489 (GRCm39) |
I2942L |
probably benign |
Het |
| Ehd4 |
C |
T |
2: 119,932,689 (GRCm39) |
V246I |
possibly damaging |
Het |
| Ercc6l2 |
A |
G |
13: 64,020,158 (GRCm39) |
|
probably benign |
Het |
| Exoc4 |
T |
A |
6: 33,309,218 (GRCm39) |
M280K |
probably damaging |
Het |
| Fmo1 |
T |
G |
1: 162,678,979 (GRCm39) |
E89A |
probably benign |
Het |
| Foxm1 |
A |
G |
6: 128,350,898 (GRCm39) |
D733G |
probably benign |
Het |
| Garin5b |
T |
C |
7: 4,773,677 (GRCm39) |
T73A |
probably damaging |
Het |
| Gulp1 |
A |
C |
1: 44,793,511 (GRCm39) |
R57S |
probably damaging |
Het |
| Hdac1-ps |
T |
C |
17: 78,799,716 (GRCm39) |
S236P |
probably damaging |
Het |
| Hdac4 |
G |
T |
1: 91,957,876 (GRCm39) |
A46E |
probably benign |
Het |
| Hspg2 |
T |
C |
4: 137,241,966 (GRCm39) |
S567P |
possibly damaging |
Het |
| Insyn1 |
C |
A |
9: 58,406,530 (GRCm39) |
P147T |
probably damaging |
Het |
| Iqgap1 |
A |
C |
7: 80,458,854 (GRCm39) |
C21W |
unknown |
Het |
| Isoc2a |
T |
C |
7: 4,894,488 (GRCm39) |
L57P |
probably damaging |
Het |
| Krt34 |
G |
A |
11: 99,929,272 (GRCm39) |
Q313* |
probably null |
Het |
| Krt6a |
C |
T |
15: 101,601,008 (GRCm39) |
V263I |
probably damaging |
Het |
| Man2a1 |
A |
G |
17: 65,040,719 (GRCm39) |
I106V |
possibly damaging |
Het |
| Muc16 |
T |
C |
9: 18,469,675 (GRCm39) |
D7300G |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,417,082 (GRCm39) |
S3343C |
possibly damaging |
Het |
| Mup11 |
C |
T |
4: 60,618,239 (GRCm39) |
E21K |
possibly damaging |
Het |
| Myo3b |
T |
A |
2: 70,075,754 (GRCm39) |
|
probably null |
Het |
| Nlrp4c |
T |
C |
7: 6,095,507 (GRCm39) |
L795P |
probably damaging |
Het |
| Nup160 |
T |
A |
2: 90,548,220 (GRCm39) |
Y984* |
probably null |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Or2d3 |
G |
T |
7: 106,491,135 (GRCm39) |
Y60* |
probably null |
Het |
| Or5p52 |
A |
G |
7: 107,502,595 (GRCm39) |
T224A |
probably benign |
Het |
| Osmr |
A |
G |
15: 6,889,833 (GRCm39) |
V5A |
probably benign |
Het |
| Pabir1 |
T |
A |
19: 24,454,450 (GRCm39) |
M91L |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,814,317 (GRCm39) |
|
probably null |
Het |
| Pex11a |
G |
A |
7: 79,387,127 (GRCm39) |
T235M |
probably damaging |
Het |
| Pik3r6 |
A |
G |
11: 68,442,799 (GRCm39) |
T730A |
probably benign |
Het |
| Ppp1r9a |
C |
T |
6: 5,110,715 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2d |
T |
C |
7: 138,474,742 (GRCm39) |
I41T |
probably damaging |
Het |
| Prdm1 |
C |
T |
10: 44,326,191 (GRCm39) |
R126H |
probably damaging |
Het |
| Primpol |
C |
T |
8: 47,039,477 (GRCm39) |
R381H |
probably benign |
Het |
| Prl7a1 |
C |
A |
13: 27,821,626 (GRCm39) |
Q102H |
probably benign |
Het |
| Rbpjl |
T |
C |
2: 164,252,799 (GRCm39) |
L284P |
probably damaging |
Het |
| Rgs21 |
A |
T |
1: 144,417,035 (GRCm39) |
C6S |
probably benign |
Het |
| Rnasel |
T |
C |
1: 153,630,138 (GRCm39) |
V218A |
probably benign |
Het |
| Sdk1 |
C |
T |
5: 142,117,824 (GRCm39) |
T1574M |
probably damaging |
Het |
| Secisbp2 |
G |
A |
13: 51,833,896 (GRCm39) |
V679M |
probably damaging |
Het |
| Sele |
T |
A |
1: 163,879,386 (GRCm39) |
|
probably null |
Het |
| Senp7 |
T |
A |
16: 55,990,117 (GRCm39) |
L622M |
probably damaging |
Het |
| Sgo1 |
G |
A |
17: 53,983,981 (GRCm39) |
R466C |
probably damaging |
Het |
| Sh3tc1 |
C |
A |
5: 35,863,590 (GRCm39) |
V866L |
probably benign |
Het |
| Snrnp25 |
T |
A |
11: 32,157,647 (GRCm39) |
V75D |
probably benign |
Het |
| Syne1 |
C |
T |
10: 5,011,429 (GRCm39) |
C7899Y |
probably damaging |
Het |
| U2af1l4 |
T |
C |
7: 30,264,007 (GRCm39) |
S55P |
probably damaging |
Het |
| Vmn1r23 |
A |
G |
6: 57,903,040 (GRCm39) |
I246T |
possibly damaging |
Het |
| Vmn1r66 |
T |
A |
7: 10,008,329 (GRCm39) |
R235* |
probably null |
Het |
| Wnk4 |
C |
T |
11: 101,165,894 (GRCm39) |
A807V |
possibly damaging |
Het |
|
| Other mutations in Sag |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00684:Sag
|
APN |
1 |
87,752,146 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL00822:Sag
|
APN |
1 |
87,772,748 (GRCm39) |
splice site |
probably null |
|
|
IGL01140:Sag
|
APN |
1 |
87,751,086 (GRCm39) |
missense |
probably benign |
0.22 |
|
IGL01612:Sag
|
APN |
1 |
87,733,071 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02183:Sag
|
APN |
1 |
87,756,197 (GRCm39) |
splice site |
probably null |
|
|
IGL02893:Sag
|
APN |
1 |
87,762,315 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0049:Sag
|
UTSW |
1 |
87,762,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0049:Sag
|
UTSW |
1 |
87,762,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0091:Sag
|
UTSW |
1 |
87,742,402 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0531:Sag
|
UTSW |
1 |
87,762,351 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0609:Sag
|
UTSW |
1 |
87,740,713 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1328:Sag
|
UTSW |
1 |
87,738,016 (GRCm39) |
splice site |
probably benign |
|
|
R1395:Sag
|
UTSW |
1 |
87,756,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1748:Sag
|
UTSW |
1 |
87,759,662 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1858:Sag
|
UTSW |
1 |
87,742,570 (GRCm39) |
missense |
probably benign |
|
|
R2020:Sag
|
UTSW |
1 |
87,733,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3854:Sag
|
UTSW |
1 |
87,752,240 (GRCm39) |
splice site |
probably benign |
|
|
R4021:Sag
|
UTSW |
1 |
87,749,027 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4298:Sag
|
UTSW |
1 |
87,772,737 (GRCm39) |
missense |
probably benign |
|
|
R4630:Sag
|
UTSW |
1 |
87,762,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5352:Sag
|
UTSW |
1 |
87,740,715 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5680:Sag
|
UTSW |
1 |
87,749,059 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6407:Sag
|
UTSW |
1 |
87,742,528 (GRCm39) |
missense |
probably benign |
|
|
R7431:Sag
|
UTSW |
1 |
87,749,059 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R7548:Sag
|
UTSW |
1 |
87,772,638 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8122:Sag
|
UTSW |
1 |
87,762,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8679:Sag
|
UTSW |
1 |
87,738,032 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8723:Sag
|
UTSW |
1 |
87,751,175 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8878:Sag
|
UTSW |
1 |
87,756,158 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8891:Sag
|
UTSW |
1 |
87,759,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8995:Sag
|
UTSW |
1 |
87,733,052 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9036:Sag
|
UTSW |
1 |
87,749,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9123:Sag
|
UTSW |
1 |
87,751,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCAGATGAGGCTGAACATG -3'
(R):5'- AGGCAGATCTAAGGGCACTG -3'
Sequencing Primer
(F):5'- AGGCTGAACATGTTGATAGCCTTC -3'
(R):5'- CAGATCTAAGGGCACTGTTGGG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation