Incidental Mutation 'R0009:Unc5a'
ID |
40492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Unc5a
|
Ensembl Gene |
ENSMUSG00000025876 |
Gene Name |
unc-5 netrin receptor A |
Synonyms |
Unc5h1 |
MMRRC Submission |
038304-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0009 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
55097224-55153831 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55150692 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 505
(C505S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105621
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026994]
[ENSMUST00000052949]
[ENSMUST00000109994]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000136852]
[ENSMUST00000153665]
[ENSMUST00000137967]
|
AlphaFold |
Q8K1S4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000026994
AA Change: C561S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000026994 Gene: ENSMUSG00000025876 AA Change: C561S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
SCOP:d1biha1
|
44 |
143 |
1e-4 |
SMART |
IG
|
155 |
240 |
1.8e-5 |
SMART |
TSP1
|
245 |
296 |
1.25e-14 |
SMART |
TSP1
|
301 |
350 |
1.98e-8 |
SMART |
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
ZU5
|
495 |
598 |
3.68e-58 |
SMART |
DEATH
|
805 |
896 |
5.86e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052949
|
SMART Domains |
Protein: ENSMUSP00000051215 Gene: ENSMUSG00000025877
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
29 |
232 |
3.7e-76 |
PFAM |
Pfam:Hexokinase_2
|
234 |
473 |
1.9e-87 |
PFAM |
Pfam:Hexokinase_1
|
475 |
674 |
2.2e-77 |
PFAM |
Pfam:Hexokinase_2
|
676 |
915 |
2.3e-103 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109994
AA Change: C505S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105621 Gene: ENSMUSG00000025876 AA Change: C505S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
SCOP:d1biha1
|
44 |
143 |
1e-4 |
SMART |
IG
|
155 |
240 |
1.8e-5 |
SMART |
TSP1
|
245 |
294 |
1.98e-8 |
SMART |
transmembrane domain
|
305 |
327 |
N/A |
INTRINSIC |
ZU5
|
439 |
542 |
3.68e-58 |
SMART |
DEATH
|
749 |
840 |
5.86e-20 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000123097
|
SMART Domains |
Protein: ENSMUSP00000116717 Gene: ENSMUSG00000025877
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
29 |
232 |
3.3e-77 |
PFAM |
Pfam:Hexokinase_2
|
234 |
457 |
6e-74 |
PFAM |
Pfam:Hexokinase_1
|
430 |
629 |
3e-78 |
PFAM |
Pfam:Hexokinase_2
|
631 |
870 |
1e-104 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126234
|
SMART Domains |
Protein: ENSMUSP00000123233 Gene: ENSMUSG00000025877
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
31 |
230 |
2.4e-63 |
PFAM |
Pfam:Hexokinase_2
|
236 |
470 |
2.9e-62 |
PFAM |
Pfam:Hexokinase_1
|
480 |
673 |
2e-69 |
PFAM |
Pfam:Hexokinase_2
|
678 |
912 |
1.5e-81 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000132309
|
SMART Domains |
Protein: ENSMUSP00000117254 Gene: ENSMUSG00000025877
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
29 |
164 |
4.1e-39 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136852
|
SMART Domains |
Protein: ENSMUSP00000116585 Gene: ENSMUSG00000025876
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
14 |
N/A |
INTRINSIC |
TSP1
|
20 |
70 |
1.23e-1 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142906
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153665
|
SMART Domains |
Protein: ENSMUSP00000115227 Gene: ENSMUSG00000025877
Domain | Start | End | E-Value | Type |
Pfam:Hexokinase_1
|
1 |
177 |
8.5e-70 |
PFAM |
Pfam:Hexokinase_2
|
179 |
418 |
9.4e-88 |
PFAM |
Pfam:Hexokinase_1
|
420 |
619 |
1.2e-77 |
PFAM |
Pfam:Hexokinase_2
|
621 |
860 |
1.1e-103 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000137967
|
SMART Domains |
Protein: ENSMUSP00000115531 Gene: ENSMUSG00000025876
Domain | Start | End | E-Value | Type |
PDB:3G5B|A
|
1 |
118 |
6e-36 |
PDB |
Blast:DEATH
|
80 |
119 |
9e-22 |
BLAST |
|
Meta Mutation Damage Score |
0.7050 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
Validation Efficiency |
100% (68/68) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] UNC5A belongs to a family of netrin-1 (MIM 601614) receptors thought to mediate the chemorepulsive effect of netrin-1 on specific axons. For more information on UNC5 proteins, see UNC5C (MIM 603610).[supplied by OMIM, Apr 2004] PHENOTYPE: Homozygous null mice are viable through adulthood but display decreased apoptotic cell death, supernumerary neurons and morphological alterations in the embryonic cervical spinal cord. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
T |
G |
15: 60,791,482 (GRCm39) |
|
probably benign |
Het |
Abcg4 |
T |
G |
9: 44,188,946 (GRCm39) |
|
probably benign |
Het |
Afm |
C |
A |
5: 90,693,243 (GRCm39) |
|
probably benign |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Aplnr |
T |
A |
2: 84,967,620 (GRCm39) |
|
probably null |
Het |
Arih2 |
T |
A |
9: 108,488,926 (GRCm39) |
H264L |
probably damaging |
Het |
Atp1a1 |
A |
T |
3: 101,487,151 (GRCm39) |
I886N |
possibly damaging |
Het |
Bmf |
A |
T |
2: 118,380,103 (GRCm39) |
V14E |
probably damaging |
Het |
Ccdc116 |
T |
C |
16: 16,961,903 (GRCm39) |
E15G |
probably damaging |
Het |
Ccdc175 |
T |
C |
12: 72,182,739 (GRCm39) |
N427D |
possibly damaging |
Het |
Cfap53 |
A |
G |
18: 74,432,247 (GRCm39) |
H45R |
probably benign |
Het |
Chd3 |
A |
G |
11: 69,240,732 (GRCm39) |
L1569P |
probably damaging |
Het |
Cntn2 |
G |
A |
1: 132,443,918 (GRCm39) |
Q457* |
probably null |
Het |
Coro1a |
A |
T |
7: 126,300,585 (GRCm39) |
|
probably benign |
Het |
Cracr2b |
T |
A |
7: 141,043,672 (GRCm39) |
L91Q |
probably damaging |
Het |
Ctdspl |
T |
C |
9: 118,849,114 (GRCm39) |
|
probably null |
Het |
Dip2b |
T |
A |
15: 100,067,193 (GRCm39) |
L565Q |
probably damaging |
Het |
Dip2c |
T |
A |
13: 9,671,939 (GRCm39) |
C1004S |
probably damaging |
Het |
Dnah11 |
A |
T |
12: 118,009,257 (GRCm39) |
I2135N |
possibly damaging |
Het |
Dnah14 |
A |
G |
1: 181,596,972 (GRCm39) |
|
probably benign |
Het |
Dnase1 |
T |
C |
16: 3,856,810 (GRCm39) |
V147A |
probably damaging |
Het |
Dusp8 |
T |
C |
7: 141,635,791 (GRCm39) |
|
probably benign |
Het |
Fer1l6 |
T |
C |
15: 58,534,636 (GRCm39) |
Y1828H |
probably damaging |
Het |
Flvcr1 |
A |
G |
1: 190,740,388 (GRCm39) |
V544A |
probably benign |
Het |
Fsd1l |
T |
C |
4: 53,687,209 (GRCm39) |
V311A |
probably benign |
Het |
Glud1 |
G |
A |
14: 34,056,225 (GRCm39) |
G300S |
probably benign |
Het |
Gm4847 |
C |
T |
1: 166,458,055 (GRCm39) |
V433I |
probably benign |
Het |
Gstm3 |
T |
G |
3: 107,875,156 (GRCm39) |
Y62S |
probably damaging |
Het |
Gtse1 |
C |
T |
15: 85,746,636 (GRCm39) |
P151S |
probably benign |
Het |
Herc2 |
T |
C |
7: 55,857,560 (GRCm39) |
S4048P |
probably benign |
Het |
Hp1bp3 |
T |
A |
4: 137,948,994 (GRCm39) |
I19K |
probably benign |
Het |
Htr7 |
C |
A |
19: 36,018,940 (GRCm39) |
|
probably benign |
Het |
Il1a |
C |
T |
2: 129,150,994 (GRCm39) |
D10N |
probably damaging |
Het |
Il22ra2 |
A |
T |
10: 19,500,206 (GRCm39) |
N39I |
probably damaging |
Het |
Kcnn4 |
T |
C |
7: 24,078,680 (GRCm39) |
C267R |
possibly damaging |
Het |
Larp1 |
A |
G |
11: 57,946,299 (GRCm39) |
K879R |
possibly damaging |
Het |
Lcn5 |
T |
A |
2: 25,551,417 (GRCm39) |
|
probably benign |
Het |
Lep |
T |
A |
6: 29,068,971 (GRCm39) |
C7* |
probably null |
Het |
Magi2 |
A |
T |
5: 20,816,053 (GRCm39) |
Y747F |
probably benign |
Het |
Mast4 |
T |
C |
13: 102,878,566 (GRCm39) |
T1223A |
probably damaging |
Het |
Mcc |
C |
T |
18: 44,579,000 (GRCm39) |
E803K |
probably damaging |
Het |
Mtmr4 |
T |
C |
11: 87,502,334 (GRCm39) |
I796T |
probably benign |
Het |
Myef2 |
A |
T |
2: 124,950,898 (GRCm39) |
D312E |
probably benign |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Myo19 |
T |
A |
11: 84,778,995 (GRCm39) |
|
probably null |
Het |
Naa15 |
T |
G |
3: 51,377,640 (GRCm39) |
H763Q |
probably damaging |
Het |
Pde5a |
C |
T |
3: 122,618,551 (GRCm39) |
|
probably benign |
Het |
Plpp2 |
C |
T |
10: 79,363,078 (GRCm39) |
R184H |
probably benign |
Het |
Rab19 |
T |
G |
6: 39,366,621 (GRCm39) |
L179V |
probably damaging |
Het |
Rims2 |
T |
A |
15: 39,398,362 (GRCm39) |
M1087K |
probably damaging |
Het |
Riox2 |
C |
A |
16: 59,309,730 (GRCm39) |
D361E |
probably benign |
Het |
Sh3rf1 |
T |
A |
8: 61,679,327 (GRCm39) |
V123E |
probably damaging |
Het |
Slc35e1 |
A |
T |
8: 73,238,553 (GRCm39) |
N318K |
probably damaging |
Het |
Slc9a2 |
A |
T |
1: 40,802,762 (GRCm39) |
E604V |
probably benign |
Het |
Srp72 |
T |
C |
5: 77,135,732 (GRCm39) |
S221P |
probably damaging |
Het |
Tbx19 |
A |
T |
1: 164,988,089 (GRCm39) |
S15T |
possibly damaging |
Het |
Tcea2 |
A |
G |
2: 181,327,610 (GRCm39) |
T112A |
probably benign |
Het |
Tesk1 |
T |
A |
4: 43,445,368 (GRCm39) |
D230E |
probably damaging |
Het |
Tm4sf5 |
C |
T |
11: 70,401,538 (GRCm39) |
A179V |
probably damaging |
Het |
Tnr |
G |
T |
1: 159,679,986 (GRCm39) |
G320V |
probably damaging |
Het |
Trappc11 |
A |
T |
8: 47,956,355 (GRCm39) |
C874S |
possibly damaging |
Het |
Trpm3 |
T |
A |
19: 22,891,810 (GRCm39) |
Y885N |
probably damaging |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Xpo5 |
T |
C |
17: 46,515,712 (GRCm39) |
|
probably benign |
Het |
Zfp637 |
C |
A |
6: 117,822,629 (GRCm39) |
H252Q |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,479,903 (GRCm39) |
D693E |
probably damaging |
Het |
|
Other mutations in Unc5a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00272:Unc5a
|
APN |
13 |
55,143,633 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00339:Unc5a
|
APN |
13 |
55,143,628 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL00924:Unc5a
|
APN |
13 |
55,152,327 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01411:Unc5a
|
APN |
13 |
55,150,741 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01511:Unc5a
|
APN |
13 |
55,152,629 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02430:Unc5a
|
APN |
13 |
55,150,295 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02996:Unc5a
|
APN |
13 |
55,143,991 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03188:Unc5a
|
APN |
13 |
55,147,316 (GRCm39) |
missense |
probably damaging |
0.98 |
PIT1430001:Unc5a
|
UTSW |
13 |
55,151,709 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4378001:Unc5a
|
UTSW |
13 |
55,143,681 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0009:Unc5a
|
UTSW |
13 |
55,150,692 (GRCm39) |
missense |
probably damaging |
1.00 |
R0028:Unc5a
|
UTSW |
13 |
55,151,726 (GRCm39) |
missense |
possibly damaging |
0.70 |
R0505:Unc5a
|
UTSW |
13 |
55,152,767 (GRCm39) |
missense |
probably damaging |
1.00 |
R0744:Unc5a
|
UTSW |
13 |
55,151,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0745:Unc5a
|
UTSW |
13 |
55,153,068 (GRCm39) |
frame shift |
probably null |
|
R0836:Unc5a
|
UTSW |
13 |
55,151,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1018:Unc5a
|
UTSW |
13 |
55,138,765 (GRCm39) |
missense |
possibly damaging |
0.81 |
R1432:Unc5a
|
UTSW |
13 |
55,152,285 (GRCm39) |
unclassified |
probably benign |
|
R1469:Unc5a
|
UTSW |
13 |
55,144,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1469:Unc5a
|
UTSW |
13 |
55,144,232 (GRCm39) |
missense |
probably damaging |
1.00 |
R1691:Unc5a
|
UTSW |
13 |
55,150,737 (GRCm39) |
missense |
probably damaging |
1.00 |
R2132:Unc5a
|
UTSW |
13 |
55,138,896 (GRCm39) |
missense |
probably damaging |
0.96 |
R4020:Unc5a
|
UTSW |
13 |
55,151,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R4080:Unc5a
|
UTSW |
13 |
55,152,294 (GRCm39) |
missense |
possibly damaging |
0.62 |
R4720:Unc5a
|
UTSW |
13 |
55,151,696 (GRCm39) |
missense |
probably null |
1.00 |
R4876:Unc5a
|
UTSW |
13 |
55,145,042 (GRCm39) |
missense |
probably benign |
|
R4953:Unc5a
|
UTSW |
13 |
55,147,683 (GRCm39) |
missense |
probably benign |
0.02 |
R5112:Unc5a
|
UTSW |
13 |
55,151,231 (GRCm39) |
critical splice donor site |
probably null |
|
R5593:Unc5a
|
UTSW |
13 |
55,152,747 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5903:Unc5a
|
UTSW |
13 |
55,147,503 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6521:Unc5a
|
UTSW |
13 |
55,152,748 (GRCm39) |
missense |
probably benign |
0.01 |
R6723:Unc5a
|
UTSW |
13 |
55,143,702 (GRCm39) |
missense |
probably benign |
0.23 |
R7038:Unc5a
|
UTSW |
13 |
55,152,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R7065:Unc5a
|
UTSW |
13 |
55,138,896 (GRCm39) |
missense |
probably damaging |
1.00 |
R7241:Unc5a
|
UTSW |
13 |
55,138,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R7365:Unc5a
|
UTSW |
13 |
55,144,386 (GRCm39) |
missense |
possibly damaging |
0.80 |
R7487:Unc5a
|
UTSW |
13 |
55,144,362 (GRCm39) |
missense |
probably benign |
0.40 |
R7980:Unc5a
|
UTSW |
13 |
55,147,319 (GRCm39) |
missense |
possibly damaging |
0.57 |
R8032:Unc5a
|
UTSW |
13 |
55,144,299 (GRCm39) |
missense |
possibly damaging |
0.65 |
R8087:Unc5a
|
UTSW |
13 |
55,143,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R8910:Unc5a
|
UTSW |
13 |
55,151,401 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9126:Unc5a
|
UTSW |
13 |
55,145,774 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9492:Unc5a
|
UTSW |
13 |
55,150,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTTCCGTCCTTACGGTGTCAAC -3'
(R):5'- TTGTGGGTCAGTGCCTAACCAAC -3'
Sequencing Primer
(F):5'- TTACGGTGTCAACCACCC -3'
(R):5'- AACTTAGGAGTCCTTAGAGCCTC -3'
|
Posted On |
2013-05-23 |