Incidental Mutation 'R6321:Kidins220'
| ID |
510358 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kidins220
|
| Ensembl Gene |
ENSMUSG00000036333 |
| Gene Name |
kinase D-interacting substrate 220 |
| Synonyms |
C330002I19Rik, 3110039L19Rik |
| MMRRC Submission |
044418-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6321 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
25024924-25113151 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25107533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 1571
(S1571L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152726
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066652]
[ENSMUST00000220459]
[ENSMUST00000222941]
|
| AlphaFold |
E9Q9B7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066652
AA Change: S1692L
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000063999
Gene: ENSMUSG00000036333
AA Change: S1692L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
37 |
66 |
1.11e-7 |
SMART |
|
ANK
|
70 |
99 |
2.25e-3 |
SMART |
|
ANK
|
103 |
132 |
4.78e-7 |
SMART |
|
ANK
|
136 |
165 |
5.53e-3 |
SMART |
|
ANK
|
169 |
198 |
2.52e-6 |
SMART |
|
ANK
|
202 |
231 |
6.26e-2 |
SMART |
|
ANK
|
235 |
264 |
1.22e-4 |
SMART |
|
ANK
|
268 |
297 |
6.92e-4 |
SMART |
|
ANK
|
301 |
330 |
1.57e-2 |
SMART |
|
ANK
|
334 |
363 |
9.78e-4 |
SMART |
|
ANK
|
367 |
398 |
4.6e0 |
SMART |
|
Pfam:KAP_NTPase
|
440 |
953 |
1.2e-112 |
PFAM |
|
low complexity region
|
1077 |
1092 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1107 |
N/A |
INTRINSIC |
|
low complexity region
|
1382 |
1396 |
N/A |
INTRINSIC |
|
low complexity region
|
1422 |
1452 |
N/A |
INTRINSIC |
|
low complexity region
|
1509 |
1520 |
N/A |
INTRINSIC |
|
low complexity region
|
1544 |
1555 |
N/A |
INTRINSIC |
|
low complexity region
|
1561 |
1567 |
N/A |
INTRINSIC |
|
low complexity region
|
1596 |
1609 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220459
AA Change: S1571L
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221622
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222013
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222481
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222941
AA Change: S1662L
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.8%
|
| Validation Efficiency |
100% (52/52) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality. Mice heterozygous for a knock-out allele exhibit decreased dendritic complexity in the barrel somatosensory cortex and dentate gyrus neurons. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actbl2 |
G |
T |
13: 111,391,915 (GRCm39) |
M83I |
probably damaging |
Het |
| Adgra2 |
T |
A |
8: 27,604,190 (GRCm39) |
M460K |
probably benign |
Het |
| Aldh16a1 |
G |
A |
7: 44,799,189 (GRCm39) |
A31V |
probably damaging |
Het |
| Ank2 |
T |
C |
3: 126,740,587 (GRCm39) |
|
probably benign |
Het |
| Arrdc4 |
C |
A |
7: 68,398,793 (GRCm39) |
D8Y |
probably benign |
Het |
| Auts2 |
A |
G |
5: 131,494,953 (GRCm39) |
Y110H |
probably damaging |
Het |
| Blnk |
A |
T |
19: 40,922,903 (GRCm39) |
Y405N |
probably damaging |
Het |
| Capsl |
T |
C |
15: 9,461,855 (GRCm39) |
F84L |
probably damaging |
Het |
| Cdcp3 |
T |
C |
7: 130,858,735 (GRCm39) |
|
probably null |
Het |
| Cenpl |
T |
C |
1: 160,902,465 (GRCm39) |
S46P |
probably benign |
Het |
| Chd1l |
G |
A |
3: 97,494,483 (GRCm39) |
A399V |
probably damaging |
Het |
| Chrnd |
C |
T |
1: 87,119,951 (GRCm39) |
R90C |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,182,347 (GRCm39) |
M37K |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,106,027 (GRCm39) |
E625G |
possibly damaging |
Het |
| Dnah5 |
T |
G |
15: 28,372,557 (GRCm39) |
V2936G |
probably damaging |
Het |
| Dock9 |
A |
G |
14: 121,783,433 (GRCm39) |
M2055T |
probably damaging |
Het |
| Epb41l2 |
A |
T |
10: 25,344,026 (GRCm39) |
R274S |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,433,139 (GRCm39) |
H371L |
probably damaging |
Het |
| Evi5l |
C |
A |
8: 4,253,080 (GRCm39) |
P454T |
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm11595 |
G |
A |
11: 99,663,381 (GRCm39) |
R100C |
unknown |
Het |
| Golgb1 |
T |
A |
16: 36,738,559 (GRCm39) |
C2299* |
probably null |
Het |
| Heca |
G |
C |
10: 17,790,991 (GRCm39) |
|
probably null |
Het |
| Hecw1 |
C |
T |
13: 14,697,414 (GRCm39) |
A9T |
probably benign |
Het |
| Hs3st6 |
T |
A |
17: 24,977,542 (GRCm39) |
W341R |
probably damaging |
Het |
| Klk1b9 |
A |
G |
7: 43,443,732 (GRCm39) |
E82G |
probably damaging |
Het |
| Ltbp3 |
C |
A |
19: 5,795,685 (GRCm39) |
H180Q |
probably benign |
Het |
| Mecom |
A |
G |
3: 30,034,741 (GRCm39) |
Y502H |
probably damaging |
Het |
| Mfsd2a |
A |
G |
4: 122,843,165 (GRCm39) |
V372A |
probably benign |
Het |
| Mrgprd |
A |
G |
7: 144,875,879 (GRCm39) |
D250G |
probably benign |
Het |
| Muc2 |
A |
G |
7: 141,287,397 (GRCm39) |
D191G |
probably benign |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
| Or4f59 |
A |
G |
2: 111,873,113 (GRCm39) |
V88A |
probably benign |
Het |
| Or52w1 |
A |
G |
7: 105,018,109 (GRCm39) |
Y192C |
probably damaging |
Het |
| Pnpla6 |
T |
C |
8: 3,594,015 (GRCm39) |
V1342A |
probably benign |
Het |
| Ppp1r9a |
A |
G |
6: 5,115,151 (GRCm39) |
E789G |
probably damaging |
Het |
| Prkdc |
A |
G |
16: 15,532,783 (GRCm39) |
T1471A |
probably benign |
Het |
| Scarb1 |
T |
A |
5: 125,381,395 (GRCm39) |
S50C |
probably damaging |
Het |
| Slc4a8 |
C |
T |
15: 100,687,045 (GRCm39) |
T283M |
probably damaging |
Het |
| Smc2 |
C |
A |
4: 52,462,814 (GRCm39) |
D601E |
probably benign |
Het |
| Snx6 |
C |
A |
12: 54,798,798 (GRCm39) |
V221F |
probably damaging |
Het |
| Spag17 |
A |
C |
3: 99,995,743 (GRCm39) |
K1794T |
probably benign |
Het |
| Tpo |
A |
G |
12: 30,153,107 (GRCm39) |
W416R |
probably damaging |
Het |
| Ttc13 |
C |
A |
8: 125,409,930 (GRCm39) |
K427N |
probably damaging |
Het |
| Upf3a |
A |
T |
8: 13,837,466 (GRCm39) |
N137I |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,581,243 (GRCm39) |
Q3708* |
probably null |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,852,816 (GRCm39) |
F33L |
probably damaging |
Het |
| Zfp454 |
A |
G |
11: 50,763,876 (GRCm39) |
F408L |
probably damaging |
Het |
| Zfp639 |
T |
C |
3: 32,571,237 (GRCm39) |
Y40H |
probably damaging |
Het |
|
| Other mutations in Kidins220 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00551:Kidins220
|
APN |
12 |
25,088,559 (GRCm39) |
splice site |
probably benign |
|
|
IGL00959:Kidins220
|
APN |
12 |
25,101,132 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
IGL00978:Kidins220
|
APN |
12 |
25,107,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01144:Kidins220
|
APN |
12 |
25,060,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01326:Kidins220
|
APN |
12 |
25,088,498 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01545:Kidins220
|
APN |
12 |
25,090,459 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL01802:Kidins220
|
APN |
12 |
25,044,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01875:Kidins220
|
APN |
12 |
25,107,728 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02160:Kidins220
|
APN |
12 |
25,054,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02383:Kidins220
|
APN |
12 |
25,047,332 (GRCm39) |
splice site |
probably benign |
|
|
IGL02673:Kidins220
|
APN |
12 |
25,044,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02800:Kidins220
|
APN |
12 |
25,053,092 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03345:Kidins220
|
APN |
12 |
25,053,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03379:Kidins220
|
APN |
12 |
25,058,447 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03412:Kidins220
|
APN |
12 |
25,049,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0043:Kidins220
|
UTSW |
12 |
25,058,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0011:Kidins220
|
UTSW |
12 |
25,049,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0011:Kidins220
|
UTSW |
12 |
25,049,351 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0269:Kidins220
|
UTSW |
12 |
25,090,511 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0280:Kidins220
|
UTSW |
12 |
25,060,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0334:Kidins220
|
UTSW |
12 |
25,058,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1601:Kidins220
|
UTSW |
12 |
25,055,087 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1778:Kidins220
|
UTSW |
12 |
25,063,445 (GRCm39) |
splice site |
probably benign |
|
|
R1808:Kidins220
|
UTSW |
12 |
25,053,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1855:Kidins220
|
UTSW |
12 |
25,106,590 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Kidins220
|
UTSW |
12 |
25,044,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1982:Kidins220
|
UTSW |
12 |
25,101,193 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2069:Kidins220
|
UTSW |
12 |
25,037,005 (GRCm39) |
splice site |
probably benign |
|
|
R2101:Kidins220
|
UTSW |
12 |
25,107,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2124:Kidins220
|
UTSW |
12 |
25,091,302 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2371:Kidins220
|
UTSW |
12 |
25,107,323 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2405:Kidins220
|
UTSW |
12 |
25,061,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3522:Kidins220
|
UTSW |
12 |
25,040,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3877:Kidins220
|
UTSW |
12 |
25,051,564 (GRCm39) |
splice site |
probably benign |
|
|
R3915:Kidins220
|
UTSW |
12 |
25,103,957 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R4023:Kidins220
|
UTSW |
12 |
25,107,143 (GRCm39) |
splice site |
probably null |
|
|
R4287:Kidins220
|
UTSW |
12 |
25,106,845 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4476:Kidins220
|
UTSW |
12 |
25,061,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4495:Kidins220
|
UTSW |
12 |
25,088,301 (GRCm39) |
splice site |
probably null |
|
|
R4627:Kidins220
|
UTSW |
12 |
25,107,041 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4807:Kidins220
|
UTSW |
12 |
25,107,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4899:Kidins220
|
UTSW |
12 |
25,063,442 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4960:Kidins220
|
UTSW |
12 |
25,042,259 (GRCm39) |
nonsense |
probably null |
|
|
R5118:Kidins220
|
UTSW |
12 |
25,042,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5183:Kidins220
|
UTSW |
12 |
25,101,125 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5238:Kidins220
|
UTSW |
12 |
25,053,009 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5580:Kidins220
|
UTSW |
12 |
25,097,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5707:Kidins220
|
UTSW |
12 |
25,063,390 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Kidins220
|
UTSW |
12 |
25,107,139 (GRCm39) |
nonsense |
probably null |
|
|
R6131:Kidins220
|
UTSW |
12 |
25,042,313 (GRCm39) |
splice site |
probably null |
|
|
R6146:Kidins220
|
UTSW |
12 |
25,102,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6151:Kidins220
|
UTSW |
12 |
25,106,908 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R6160:Kidins220
|
UTSW |
12 |
25,047,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6187:Kidins220
|
UTSW |
12 |
25,101,307 (GRCm39) |
splice site |
probably null |
|
|
R6289:Kidins220
|
UTSW |
12 |
25,106,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Kidins220
|
UTSW |
12 |
25,107,190 (GRCm39) |
missense |
probably benign |
|
|
R6513:Kidins220
|
UTSW |
12 |
25,088,434 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6652:Kidins220
|
UTSW |
12 |
25,060,059 (GRCm39) |
splice site |
probably null |
|
|
R6711:Kidins220
|
UTSW |
12 |
25,048,750 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6858:Kidins220
|
UTSW |
12 |
25,058,542 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7102:Kidins220
|
UTSW |
12 |
25,107,662 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7112:Kidins220
|
UTSW |
12 |
25,054,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7139:Kidins220
|
UTSW |
12 |
25,044,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7140:Kidins220
|
UTSW |
12 |
25,086,623 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7271:Kidins220
|
UTSW |
12 |
25,061,570 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7361:Kidins220
|
UTSW |
12 |
25,106,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7509:Kidins220
|
UTSW |
12 |
25,032,360 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7510:Kidins220
|
UTSW |
12 |
25,042,268 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7783:Kidins220
|
UTSW |
12 |
25,038,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7796:Kidins220
|
UTSW |
12 |
25,032,350 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7831:Kidins220
|
UTSW |
12 |
25,111,230 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8074:Kidins220
|
UTSW |
12 |
25,107,715 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8214:Kidins220
|
UTSW |
12 |
25,044,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8304:Kidins220
|
UTSW |
12 |
25,107,127 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8313:Kidins220
|
UTSW |
12 |
25,054,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8346:Kidins220
|
UTSW |
12 |
25,086,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8392:Kidins220
|
UTSW |
12 |
25,040,727 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8482:Kidins220
|
UTSW |
12 |
25,090,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8722:Kidins220
|
UTSW |
12 |
25,051,593 (GRCm39) |
missense |
probably benign |
|
|
R8831:Kidins220
|
UTSW |
12 |
25,086,454 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8960:Kidins220
|
UTSW |
12 |
25,106,914 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9193:Kidins220
|
UTSW |
12 |
25,036,966 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9267:Kidins220
|
UTSW |
12 |
25,038,558 (GRCm39) |
missense |
probably benign |
0.29 |
|
R9303:Kidins220
|
UTSW |
12 |
25,107,110 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9343:Kidins220
|
UTSW |
12 |
25,058,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9526:Kidins220
|
UTSW |
12 |
25,088,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9644:Kidins220
|
UTSW |
12 |
25,061,018 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9655:Kidins220
|
UTSW |
12 |
25,047,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:Kidins220
|
UTSW |
12 |
25,106,895 (GRCm39) |
missense |
probably benign |
0.39 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCTCTCCACAATGAGGCAG -3'
(R):5'- TCAGGTTTTCATTCTGCACAGC -3'
Sequencing Primer
(F):5'- TGACTCCCAGCTGGAAAAGGC -3'
(R):5'- CACAGCAGTTGGGTTGGGAC -3'
|
| Posted On |
2018-04-02 |
Incidental Mutation