Incidental Mutation 'R4559:Sipa1l3'
| ID |
342986 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sipa1l3
|
| Ensembl Gene |
ENSMUSG00000030583 |
| Gene Name |
signal-induced proliferation-associated 1 like 3 |
| Synonyms |
2610511M17Rik |
| MMRRC Submission |
041785-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.591)
|
| Stock # |
R4559 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
29019797-29218066 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29031678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 468
(L468Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138714
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000085809]
[ENSMUST00000182484]
[ENSMUST00000182780]
[ENSMUST00000183096]
|
| AlphaFold |
G3X9J0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085809
AA Change: L1517Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000082965
Gene: ENSMUSG00000030583
AA Change: L1517Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
634 |
816 |
1.7e-68 |
PFAM |
|
PDZ
|
969 |
1035 |
1.39e-8 |
SMART |
|
low complexity region
|
1053 |
1064 |
N/A |
INTRINSIC |
|
low complexity region
|
1190 |
1201 |
N/A |
INTRINSIC |
|
low complexity region
|
1260 |
1277 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1294 |
N/A |
INTRINSIC |
|
Pfam:SPAR_C
|
1471 |
1721 |
1.6e-96 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182009
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182223
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000182484
AA Change: L468Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000138714
Gene: ENSMUSG00000030583
AA Change: L468Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
15 |
N/A |
INTRINSIC |
|
low complexity region
|
141 |
152 |
N/A |
INTRINSIC |
|
low complexity region
|
211 |
228 |
N/A |
INTRINSIC |
|
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
|
Pfam:DUF3401
|
422 |
671 |
2.7e-94 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182780
|
| SMART Domains |
Protein: ENSMUSP00000138311
Gene: ENSMUSG00000030583
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
94 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182829
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000183096
AA Change: L1517Q
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138171
Gene: ENSMUSG00000030583
AA Change: L1517Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
54 |
69 |
N/A |
INTRINSIC |
|
low complexity region
|
361 |
380 |
N/A |
INTRINSIC |
|
low complexity region
|
407 |
419 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
634 |
822 |
6.7e-64 |
PFAM |
|
PDZ
|
969 |
1035 |
1.39e-8 |
SMART |
|
low complexity region
|
1053 |
1064 |
N/A |
INTRINSIC |
|
low complexity region
|
1190 |
1201 |
N/A |
INTRINSIC |
|
low complexity region
|
1260 |
1277 |
N/A |
INTRINSIC |
|
low complexity region
|
1283 |
1294 |
N/A |
INTRINSIC |
|
Pfam:DUF3401
|
1471 |
1721 |
7.2e-94 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000183330
AA Change: L557Q
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183164
|
| Meta Mutation Damage Score |
0.0893 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (56/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the signal induced proliferation associated 1 family of genes, which encode GTPase-activating proteins specific for the GTP-binding protein Rap1. Rap1 has been implicated in regulation of cell adhesion, cell polarity, and organization of the cytoskeleton. Like other members of the family, the protein encoded by this gene contains RapGAP and PDZ domains. In addition, this protein contains a C-terminal leucine zipper domain. This gene is proposed to function in epithelial cell morphogenesis and establishment or maintenance of polarity. Consistently, expression of the protein in cell culture showed localization to cell-cell borders in apical regions, and downregulation of the gene in 3D Caco2 cell culture resulted in abnormal cell polarity and morphogenesis. Allelic variants of this gene have been associated with congenital cataracts in humans. [provided by RefSeq, Feb 2016]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit small lenses, microphthalmia, cataracts, posterior iris synechia, and abnormal lens fiber morphology. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(486) : Gene trapped(486)
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017G19Rik |
A |
G |
3: 40,567,240 (GRCm39) |
|
noncoding transcript |
Het |
| 1700066M21Rik |
T |
C |
1: 57,422,083 (GRCm39) |
F153S |
possibly damaging |
Het |
| Acss1 |
A |
G |
2: 150,480,405 (GRCm39) |
V222A |
probably benign |
Het |
| Atad2b |
A |
G |
12: 4,993,223 (GRCm39) |
I247M |
probably benign |
Het |
| Atxn10 |
A |
G |
15: 85,322,321 (GRCm39) |
I398V |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 68,004,584 (GRCm39) |
C2312S |
probably damaging |
Het |
| Cidea |
C |
T |
18: 67,493,298 (GRCm39) |
Q106* |
probably null |
Het |
| Cnga4 |
A |
G |
7: 105,054,892 (GRCm39) |
T159A |
probably damaging |
Het |
| Cyp2j12 |
G |
T |
4: 96,001,194 (GRCm39) |
S304R |
probably damaging |
Het |
| Dennd2b |
A |
G |
7: 109,124,785 (GRCm39) |
F665L |
probably damaging |
Het |
| Dsg4 |
T |
A |
18: 20,603,978 (GRCm39) |
V815E |
probably damaging |
Het |
| Entrep1 |
G |
A |
19: 24,007,913 (GRCm39) |
S130L |
probably damaging |
Het |
| Farp1 |
T |
C |
14: 121,510,213 (GRCm39) |
M737T |
probably damaging |
Het |
| Fbn1 |
T |
A |
2: 125,193,634 (GRCm39) |
D1395V |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,209,146 (GRCm39) |
M1076I |
probably benign |
Het |
| Fitm2 |
T |
A |
2: 163,314,593 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,929,148 (GRCm39) |
R3851G |
probably damaging |
Het |
| Frem2 |
C |
T |
3: 53,561,742 (GRCm39) |
V922I |
probably benign |
Het |
| Gm10719 |
A |
T |
9: 3,018,945 (GRCm39) |
T200S |
probably benign |
Het |
| Grin3a |
T |
C |
4: 49,844,555 (GRCm39) |
D176G |
probably damaging |
Het |
| Hdac5 |
T |
C |
11: 102,089,928 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
C |
A |
17: 25,309,741 (GRCm39) |
H1090Q |
probably damaging |
Het |
| Il20ra |
A |
G |
10: 19,625,032 (GRCm39) |
T104A |
probably damaging |
Het |
| Il22ra2 |
A |
G |
10: 19,502,460 (GRCm39) |
D93G |
possibly damaging |
Het |
| Ing1 |
A |
G |
8: 11,612,090 (GRCm39) |
K176R |
probably benign |
Het |
| Jph1 |
A |
T |
1: 17,074,735 (GRCm39) |
C428S |
probably benign |
Het |
| Kif13b |
G |
T |
14: 65,043,581 (GRCm39) |
G1794W |
probably damaging |
Het |
| Map10 |
A |
G |
8: 126,398,553 (GRCm39) |
T649A |
probably benign |
Het |
| Med12l |
T |
C |
3: 58,914,523 (GRCm39) |
|
probably null |
Het |
| Nat8f1 |
A |
G |
6: 85,887,567 (GRCm39) |
I131T |
probably benign |
Het |
| Oas1d |
C |
A |
5: 121,054,958 (GRCm39) |
Q177K |
probably benign |
Het |
| Or4a74 |
C |
A |
2: 89,440,043 (GRCm39) |
M134I |
probably damaging |
Het |
| Or51q1 |
G |
A |
7: 103,628,767 (GRCm39) |
D123N |
probably damaging |
Het |
| P2ry2 |
A |
G |
7: 100,647,363 (GRCm39) |
V314A |
possibly damaging |
Het |
| Pabir2 |
G |
A |
X: 52,349,554 (GRCm39) |
|
probably benign |
Het |
| Pfkl |
G |
T |
10: 77,824,717 (GRCm39) |
R691S |
probably benign |
Het |
| Plb1 |
T |
A |
5: 32,490,175 (GRCm39) |
I1005N |
probably damaging |
Het |
| Prkacb |
A |
G |
3: 146,451,147 (GRCm39) |
|
probably benign |
Het |
| Ptprm |
A |
T |
17: 66,990,403 (GRCm39) |
Y1412N |
possibly damaging |
Het |
| Rab22a |
A |
G |
2: 173,503,226 (GRCm39) |
D13G |
probably damaging |
Het |
| Rab29 |
G |
A |
1: 131,800,305 (GRCm39) |
W201* |
probably null |
Het |
| Rasa3 |
T |
C |
8: 13,648,259 (GRCm39) |
E135G |
probably damaging |
Het |
| Rassf10 |
A |
G |
7: 112,554,338 (GRCm39) |
E313G |
probably benign |
Het |
| Sf1 |
GGCAGCAGCAGCAGCAGCAGC |
GGCAGCAGCAGCAGCAGC |
19: 6,424,845 (GRCm39) |
|
probably benign |
Het |
| Slc17a1 |
A |
T |
13: 24,062,695 (GRCm39) |
K254* |
probably null |
Het |
| Slc6a12 |
G |
A |
6: 121,340,820 (GRCm39) |
|
probably null |
Het |
| Slfn8 |
A |
G |
11: 82,895,570 (GRCm39) |
L412P |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,583 (GRCm39) |
S469P |
probably damaging |
Het |
| Tgoln1 |
T |
C |
6: 72,592,664 (GRCm39) |
E272G |
probably damaging |
Het |
| Tlr12 |
C |
A |
4: 128,509,563 (GRCm39) |
G896W |
probably damaging |
Het |
| Tnfrsf1a |
A |
G |
6: 125,337,729 (GRCm39) |
I229V |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,749,890 (GRCm39) |
H3720Y |
probably benign |
Het |
|
| Other mutations in Sipa1l3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00327:Sipa1l3
|
APN |
7 |
29,053,558 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00481:Sipa1l3
|
APN |
7 |
29,085,533 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01071:Sipa1l3
|
APN |
7 |
29,023,645 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL01300:Sipa1l3
|
APN |
7 |
29,099,253 (GRCm39) |
nonsense |
probably null |
|
|
IGL01361:Sipa1l3
|
APN |
7 |
29,048,112 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01380:Sipa1l3
|
APN |
7 |
29,030,797 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02083:Sipa1l3
|
APN |
7 |
29,086,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02484:Sipa1l3
|
APN |
7 |
29,098,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02542:Sipa1l3
|
APN |
7 |
29,087,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02645:Sipa1l3
|
APN |
7 |
29,028,405 (GRCm39) |
splice site |
probably null |
|
|
IGL03410:Sipa1l3
|
APN |
7 |
29,047,964 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0014:Sipa1l3
|
UTSW |
7 |
29,082,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0111:Sipa1l3
|
UTSW |
7 |
29,047,743 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0309:Sipa1l3
|
UTSW |
7 |
29,047,775 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0554:Sipa1l3
|
UTSW |
7 |
29,087,455 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0624:Sipa1l3
|
UTSW |
7 |
29,086,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0894:Sipa1l3
|
UTSW |
7 |
29,086,716 (GRCm39) |
nonsense |
probably null |
|
|
R1468:Sipa1l3
|
UTSW |
7 |
29,021,685 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1468:Sipa1l3
|
UTSW |
7 |
29,021,685 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1550:Sipa1l3
|
UTSW |
7 |
29,082,628 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1850:Sipa1l3
|
UTSW |
7 |
29,038,551 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1905:Sipa1l3
|
UTSW |
7 |
29,038,592 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1907:Sipa1l3
|
UTSW |
7 |
29,038,592 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1994:Sipa1l3
|
UTSW |
7 |
29,099,036 (GRCm39) |
missense |
probably benign |
0.39 |
|
R2228:Sipa1l3
|
UTSW |
7 |
29,077,364 (GRCm39) |
nonsense |
probably null |
|
|
R2267:Sipa1l3
|
UTSW |
7 |
29,099,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2341:Sipa1l3
|
UTSW |
7 |
29,077,060 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3914:Sipa1l3
|
UTSW |
7 |
29,099,510 (GRCm39) |
missense |
probably benign |
0.28 |
|
R4197:Sipa1l3
|
UTSW |
7 |
29,100,238 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4569:Sipa1l3
|
UTSW |
7 |
29,025,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4783:Sipa1l3
|
UTSW |
7 |
29,077,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Sipa1l3
|
UTSW |
7 |
29,077,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4785:Sipa1l3
|
UTSW |
7 |
29,077,066 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Sipa1l3
|
UTSW |
7 |
29,070,427 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5057:Sipa1l3
|
UTSW |
7 |
29,070,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Sipa1l3
|
UTSW |
7 |
29,048,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5085:Sipa1l3
|
UTSW |
7 |
29,048,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Sipa1l3
|
UTSW |
7 |
29,048,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5918:Sipa1l3
|
UTSW |
7 |
29,096,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5973:Sipa1l3
|
UTSW |
7 |
29,098,949 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6291:Sipa1l3
|
UTSW |
7 |
29,087,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6299:Sipa1l3
|
UTSW |
7 |
29,065,974 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6828:Sipa1l3
|
UTSW |
7 |
29,038,457 (GRCm39) |
missense |
probably benign |
0.17 |
|
R6914:Sipa1l3
|
UTSW |
7 |
29,085,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6942:Sipa1l3
|
UTSW |
7 |
29,085,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7102:Sipa1l3
|
UTSW |
7 |
29,048,012 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R7225:Sipa1l3
|
UTSW |
7 |
29,098,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Sipa1l3
|
UTSW |
7 |
29,099,121 (GRCm39) |
missense |
probably benign |
|
|
R7429:Sipa1l3
|
UTSW |
7 |
29,086,631 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7489:Sipa1l3
|
UTSW |
7 |
29,066,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7789:Sipa1l3
|
UTSW |
7 |
29,077,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7923:Sipa1l3
|
UTSW |
7 |
29,038,571 (GRCm39) |
nonsense |
probably null |
|
|
R8041:Sipa1l3
|
UTSW |
7 |
29,063,645 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8245:Sipa1l3
|
UTSW |
7 |
29,099,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9125:Sipa1l3
|
UTSW |
7 |
29,086,656 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9313:Sipa1l3
|
UTSW |
7 |
29,077,439 (GRCm39) |
missense |
probably benign |
0.38 |
|
R9469:Sipa1l3
|
UTSW |
7 |
29,028,481 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9596:Sipa1l3
|
UTSW |
7 |
29,031,691 (GRCm39) |
missense |
probably benign |
0.24 |
|
Z1177:Sipa1l3
|
UTSW |
7 |
29,099,859 (GRCm39) |
missense |
probably benign |
0.06 |
|
Z1186:Sipa1l3
|
UTSW |
7 |
29,031,636 (GRCm39) |
critical splice donor site |
probably benign |
|
|
Z1186:Sipa1l3
|
UTSW |
7 |
29,031,372 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGACTCATGGTCACCAGG -3'
(R):5'- AGCAGGTTCGAAGCACAGTG -3'
Sequencing Primer
(F):5'- TCATGGTCACCAGGGCCTTC -3'
(R):5'- TGGCCCTGAGAATCTGCTTACAG -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation