Incidental Mutation 'IGL02550:Sipa1l1'
| ID |
298053 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sipa1l1
|
| Ensembl Gene |
ENSMUSG00000042700 |
| Gene Name |
signal-induced proliferation-associated 1 like 1 |
| Synonyms |
Spar, 4931426N11Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02550
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
82216138-82498560 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 82487723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 1666
(K1666*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152212
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053969]
[ENSMUST00000166429]
[ENSMUST00000220963]
[ENSMUST00000222298]
[ENSMUST00000222714]
|
| AlphaFold |
Q8C0T5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000053969
AA Change: K1666*
|
| SMART Domains |
Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: K1666*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
449 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
628 |
810 |
8.9e-70 |
PFAM |
|
PDZ
|
962 |
1028 |
2.63e-9 |
SMART |
|
low complexity region
|
1149 |
1164 |
N/A |
INTRINSIC |
|
low complexity region
|
1255 |
1279 |
N/A |
INTRINSIC |
|
low complexity region
|
1315 |
1328 |
N/A |
INTRINSIC |
|
low complexity region
|
1432 |
1447 |
N/A |
INTRINSIC |
|
Pfam:SPAR_C
|
1483 |
1727 |
4.4e-86 |
PFAM |
|
low complexity region
|
1731 |
1746 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000166429
AA Change: K1666*
|
| SMART Domains |
Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: K1666*
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
92 |
129 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
430 |
449 |
N/A |
INTRINSIC |
|
Pfam:Rap_GAP
|
628 |
816 |
1.3e-64 |
PFAM |
|
PDZ
|
962 |
1028 |
1.3e-11 |
SMART |
|
low complexity region
|
1149 |
1164 |
N/A |
INTRINSIC |
|
low complexity region
|
1255 |
1279 |
N/A |
INTRINSIC |
|
low complexity region
|
1315 |
1328 |
N/A |
INTRINSIC |
|
low complexity region
|
1432 |
1447 |
N/A |
INTRINSIC |
|
Pfam:DUF3401
|
1483 |
1727 |
1.8e-91 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000220963
AA Change: K1666*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221327
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222298
AA Change: K1666*
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222714
AA Change: K1666*
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
A |
G |
1: 66,884,325 (GRCm39) |
|
probably null |
Het |
| Acer3 |
G |
A |
7: 97,873,185 (GRCm39) |
T171I |
probably benign |
Het |
| Acsm2 |
C |
T |
7: 119,172,507 (GRCm39) |
P117S |
probably damaging |
Het |
| Anxa2 |
A |
G |
9: 69,374,588 (GRCm39) |
S22G |
probably benign |
Het |
| Arrb2 |
T |
C |
11: 70,327,696 (GRCm39) |
I120T |
probably damaging |
Het |
| Atp11a |
G |
T |
8: 12,866,997 (GRCm39) |
K141N |
possibly damaging |
Het |
| Casd1 |
T |
C |
6: 4,642,009 (GRCm39) |
V762A |
probably benign |
Het |
| Ccdc61 |
A |
T |
7: 18,627,227 (GRCm39) |
S48T |
probably benign |
Het |
| Cntn2 |
T |
C |
1: 132,456,801 (GRCm39) |
M82V |
probably null |
Het |
| Cobll1 |
A |
G |
2: 64,938,207 (GRCm39) |
S359P |
probably damaging |
Het |
| Ctnnbl1 |
C |
A |
2: 157,726,055 (GRCm39) |
D465E |
probably benign |
Het |
| Def6 |
A |
T |
17: 28,447,235 (GRCm39) |
E622V |
probably benign |
Het |
| Dmgdh |
T |
C |
13: 93,854,083 (GRCm39) |
Y678H |
probably damaging |
Het |
| Dock9 |
A |
T |
14: 121,935,724 (GRCm39) |
M1K |
probably null |
Het |
| Esyt1 |
T |
C |
10: 128,357,962 (GRCm39) |
K216E |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,156,017 (GRCm39) |
D545G |
probably benign |
Het |
| Galnt12 |
A |
T |
4: 47,104,126 (GRCm39) |
D128V |
possibly damaging |
Het |
| Gm1110 |
C |
T |
9: 26,793,130 (GRCm39) |
V549I |
probably benign |
Het |
| Gm7361 |
A |
G |
5: 26,466,120 (GRCm39) |
I161V |
possibly damaging |
Het |
| Gsn |
T |
C |
2: 35,172,619 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
A |
T |
7: 106,200,846 (GRCm39) |
|
noncoding transcript |
Het |
| Il16 |
T |
A |
7: 83,323,704 (GRCm39) |
Q282L |
possibly damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,055 (GRCm38) |
D67G |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,711,805 (GRCm39) |
L515P |
probably damaging |
Het |
| Jhy |
A |
G |
9: 40,828,466 (GRCm39) |
F480S |
probably benign |
Het |
| Klc4 |
C |
A |
17: 46,947,836 (GRCm39) |
|
probably null |
Het |
| Klhl12 |
G |
T |
1: 134,395,443 (GRCm39) |
C135F |
possibly damaging |
Het |
| Ly6m |
T |
G |
15: 74,752,604 (GRCm39) |
H24P |
probably damaging |
Het |
| Mboat7 |
G |
T |
7: 3,686,905 (GRCm39) |
|
probably null |
Het |
| Myo1f |
G |
A |
17: 33,807,116 (GRCm39) |
D522N |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,799,124 (GRCm39) |
|
probably benign |
Het |
| Nbea |
C |
A |
3: 55,926,835 (GRCm39) |
M789I |
probably damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,154,410 (GRCm39) |
D602G |
probably benign |
Het |
| Ncaph2 |
A |
T |
15: 89,254,064 (GRCm39) |
K344* |
probably null |
Het |
| Nek2 |
A |
G |
1: 191,554,371 (GRCm39) |
Y70C |
probably damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,423 (GRCm38) |
L104P |
possibly damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,349 (GRCm39) |
D121V |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,158,845 (GRCm39) |
L27P |
probably damaging |
Het |
| Or5ak22 |
G |
A |
2: 85,230,166 (GRCm39) |
A237V |
probably damaging |
Het |
| Or7e166 |
C |
A |
9: 19,624,343 (GRCm39) |
F73L |
possibly damaging |
Het |
| Or8g35 |
T |
A |
9: 39,381,842 (GRCm39) |
Y60F |
probably benign |
Het |
| Plcb3 |
T |
A |
19: 6,937,544 (GRCm39) |
K625* |
probably null |
Het |
| Plrg1 |
T |
C |
3: 82,968,430 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
A |
G |
5: 21,203,137 (GRCm39) |
V547A |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,290,331 (GRCm39) |
D748G |
probably damaging |
Het |
| Rcbtb2 |
A |
G |
14: 73,399,459 (GRCm39) |
E41G |
probably damaging |
Het |
| Rela |
G |
T |
19: 5,691,534 (GRCm39) |
R236L |
possibly damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,604,059 (GRCm39) |
S188P |
probably damaging |
Het |
| Slco1a1 |
C |
T |
6: 141,889,191 (GRCm39) |
M40I |
probably benign |
Het |
| Smarca4 |
C |
A |
9: 21,597,418 (GRCm39) |
P1391Q |
probably benign |
Het |
| Stra6 |
A |
G |
9: 58,057,366 (GRCm39) |
N392S |
possibly damaging |
Het |
| Syt4 |
A |
G |
18: 31,577,246 (GRCm39) |
I36T |
probably damaging |
Het |
| Tgfbr2 |
A |
T |
9: 115,939,197 (GRCm39) |
M235K |
probably benign |
Het |
| Tmem87a |
T |
A |
2: 120,204,966 (GRCm39) |
|
probably null |
Het |
| Tmf1 |
T |
C |
6: 97,135,522 (GRCm39) |
D918G |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,412,535 (GRCm39) |
Y312C |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,703,561 (GRCm39) |
R1178C |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,671,994 (GRCm39) |
I577N |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,572,242 (GRCm39) |
V953A |
probably benign |
Het |
| Wasl |
A |
G |
6: 24,633,883 (GRCm39) |
F127S |
probably damaging |
Het |
| Wdr1 |
C |
T |
5: 38,698,206 (GRCm39) |
V192I |
probably damaging |
Het |
| Wnt9a |
C |
T |
11: 59,221,744 (GRCm39) |
T214I |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,540,255 (GRCm39) |
D693G |
probably benign |
Het |
| Zan |
A |
G |
5: 137,385,301 (GRCm39) |
L5044P |
unknown |
Het |
| Zhx3 |
T |
C |
2: 160,623,216 (GRCm39) |
N317S |
probably damaging |
Het |
|
| Other mutations in Sipa1l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01309:Sipa1l1
|
APN |
12 |
82,434,470 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01478:Sipa1l1
|
APN |
12 |
82,493,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01620:Sipa1l1
|
APN |
12 |
82,469,263 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02496:Sipa1l1
|
APN |
12 |
82,471,868 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02689:Sipa1l1
|
APN |
12 |
82,487,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02706:Sipa1l1
|
APN |
12 |
82,444,207 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02995:Sipa1l1
|
APN |
12 |
82,404,105 (GRCm39) |
missense |
probably benign |
0.39 |
|
IGL03104:Sipa1l1
|
APN |
12 |
82,388,904 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03295:Sipa1l1
|
APN |
12 |
82,479,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bullae
|
UTSW |
12 |
82,389,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bullish
|
UTSW |
12 |
82,469,245 (GRCm39) |
nonsense |
probably null |
|
|
ebullient
|
UTSW |
12 |
82,388,446 (GRCm39) |
missense |
probably benign |
0.18 |
|
PIT4431001:Sipa1l1
|
UTSW |
12 |
82,443,290 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0140:Sipa1l1
|
UTSW |
12 |
82,442,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0348:Sipa1l1
|
UTSW |
12 |
82,431,530 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0534:Sipa1l1
|
UTSW |
12 |
82,472,054 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0538:Sipa1l1
|
UTSW |
12 |
82,471,873 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0547:Sipa1l1
|
UTSW |
12 |
82,484,510 (GRCm39) |
missense |
probably benign |
|
|
R0980:Sipa1l1
|
UTSW |
12 |
82,388,994 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R1051:Sipa1l1
|
UTSW |
12 |
82,496,119 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1244:Sipa1l1
|
UTSW |
12 |
82,472,190 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1473:Sipa1l1
|
UTSW |
12 |
82,387,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1508:Sipa1l1
|
UTSW |
12 |
82,487,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Sipa1l1
|
UTSW |
12 |
82,387,935 (GRCm39) |
missense |
probably benign |
0.31 |
|
R1671:Sipa1l1
|
UTSW |
12 |
82,444,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1935:Sipa1l1
|
UTSW |
12 |
82,419,208 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Sipa1l1
|
UTSW |
12 |
82,388,233 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2191:Sipa1l1
|
UTSW |
12 |
82,443,465 (GRCm39) |
nonsense |
probably null |
|
|
R2249:Sipa1l1
|
UTSW |
12 |
82,388,890 (GRCm39) |
missense |
probably benign |
|
|
R2909:Sipa1l1
|
UTSW |
12 |
82,404,105 (GRCm39) |
missense |
probably benign |
0.39 |
|
R4012:Sipa1l1
|
UTSW |
12 |
82,388,556 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4154:Sipa1l1
|
UTSW |
12 |
82,471,988 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4382:Sipa1l1
|
UTSW |
12 |
82,493,596 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R4448:Sipa1l1
|
UTSW |
12 |
82,388,524 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4651:Sipa1l1
|
UTSW |
12 |
82,469,245 (GRCm39) |
nonsense |
probably null |
|
|
R4652:Sipa1l1
|
UTSW |
12 |
82,469,245 (GRCm39) |
nonsense |
probably null |
|
|
R4751:Sipa1l1
|
UTSW |
12 |
82,387,968 (GRCm39) |
missense |
probably benign |
|
|
R4755:Sipa1l1
|
UTSW |
12 |
82,419,160 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R4888:Sipa1l1
|
UTSW |
12 |
82,389,107 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4912:Sipa1l1
|
UTSW |
12 |
82,443,452 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4937:Sipa1l1
|
UTSW |
12 |
82,388,103 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5068:Sipa1l1
|
UTSW |
12 |
82,484,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5113:Sipa1l1
|
UTSW |
12 |
82,487,682 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5114:Sipa1l1
|
UTSW |
12 |
82,487,682 (GRCm39) |
missense |
probably benign |
0.11 |
|
R5240:Sipa1l1
|
UTSW |
12 |
82,388,362 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6041:Sipa1l1
|
UTSW |
12 |
82,389,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6048:Sipa1l1
|
UTSW |
12 |
82,487,643 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6170:Sipa1l1
|
UTSW |
12 |
82,388,446 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6185:Sipa1l1
|
UTSW |
12 |
82,471,802 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Sipa1l1
|
UTSW |
12 |
82,419,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6842:Sipa1l1
|
UTSW |
12 |
82,467,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7008:Sipa1l1
|
UTSW |
12 |
82,409,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7058:Sipa1l1
|
UTSW |
12 |
82,449,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7069:Sipa1l1
|
UTSW |
12 |
82,388,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7122:Sipa1l1
|
UTSW |
12 |
82,469,236 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7310:Sipa1l1
|
UTSW |
12 |
82,419,269 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7469:Sipa1l1
|
UTSW |
12 |
82,467,438 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7718:Sipa1l1
|
UTSW |
12 |
82,389,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7787:Sipa1l1
|
UTSW |
12 |
82,496,762 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7844:Sipa1l1
|
UTSW |
12 |
82,444,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7893:Sipa1l1
|
UTSW |
12 |
82,388,342 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7953:Sipa1l1
|
UTSW |
12 |
82,496,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Sipa1l1
|
UTSW |
12 |
82,496,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8099:Sipa1l1
|
UTSW |
12 |
82,480,600 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8135:Sipa1l1
|
UTSW |
12 |
82,388,075 (GRCm39) |
missense |
probably benign |
|
|
R8229:Sipa1l1
|
UTSW |
12 |
82,484,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:Sipa1l1
|
UTSW |
12 |
82,443,045 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8388:Sipa1l1
|
UTSW |
12 |
82,216,259 (GRCm39) |
unclassified |
probably benign |
|
|
R8693:Sipa1l1
|
UTSW |
12 |
82,216,517 (GRCm39) |
unclassified |
probably benign |
|
|
R8826:Sipa1l1
|
UTSW |
12 |
82,389,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8884:Sipa1l1
|
UTSW |
12 |
82,409,871 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8940:Sipa1l1
|
UTSW |
12 |
82,404,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8975:Sipa1l1
|
UTSW |
12 |
82,479,612 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R9145:Sipa1l1
|
UTSW |
12 |
82,443,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9328:Sipa1l1
|
UTSW |
12 |
82,388,792 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9455:Sipa1l1
|
UTSW |
12 |
82,434,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9486:Sipa1l1
|
UTSW |
12 |
82,404,139 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9631:Sipa1l1
|
UTSW |
12 |
82,387,776 (GRCm39) |
start codon destroyed |
probably null |
0.39 |
|
R9727:Sipa1l1
|
UTSW |
12 |
82,471,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9753:Sipa1l1
|
UTSW |
12 |
82,463,763 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2015-04-16 |
Incidental Mutation