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 |
54949411-55006018 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 55002879 bp (GRCm38)
|
| 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]
[ENSMUST00000137967]
[ENSMUST00000153665]
|
| 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 |
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 |
|
| 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 |
|
| 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: 60,919,633 (GRCm38) |
|
probably benign |
Het |
| Abcg4 |
T |
G |
9: 44,277,649 (GRCm38) |
|
probably benign |
Het |
| Afm |
C |
A |
5: 90,545,384 (GRCm38) |
|
probably benign |
Het |
| Ahrr |
G |
A |
13: 74,283,024 (GRCm38) |
|
probably benign |
Het |
| Aplnr |
T |
A |
2: 85,137,276 (GRCm38) |
|
probably null |
Het |
| Arih2 |
T |
A |
9: 108,611,727 (GRCm38) |
H264L |
probably damaging |
Het |
| Atp1a1 |
A |
T |
3: 101,579,835 (GRCm38) |
I886N |
possibly damaging |
Het |
| Bmf |
A |
T |
2: 118,549,622 (GRCm38) |
V14E |
probably damaging |
Het |
| Ccdc116 |
T |
C |
16: 17,144,039 (GRCm38) |
E15G |
probably damaging |
Het |
| Ccdc175 |
T |
C |
12: 72,135,965 (GRCm38) |
N427D |
possibly damaging |
Het |
| Cfap53 |
A |
G |
18: 74,299,176 (GRCm38) |
H45R |
probably benign |
Het |
| Chd3 |
A |
G |
11: 69,349,906 (GRCm38) |
L1569P |
probably damaging |
Het |
| Cntn2 |
G |
A |
1: 132,516,180 (GRCm38) |
Q457* |
probably null |
Het |
| Coro1a |
A |
T |
7: 126,701,413 (GRCm38) |
|
probably benign |
Het |
| Cracr2b |
T |
A |
7: 141,463,759 (GRCm38) |
L91Q |
probably damaging |
Het |
| Ctdspl |
T |
C |
9: 119,020,046 (GRCm38) |
|
probably null |
Het |
| Dip2b |
T |
A |
15: 100,169,312 (GRCm38) |
L565Q |
probably damaging |
Het |
| Dip2c |
T |
A |
13: 9,621,903 (GRCm38) |
C1004S |
probably damaging |
Het |
| Dnah11 |
A |
T |
12: 118,045,522 (GRCm38) |
I2135N |
possibly damaging |
Het |
| Dnah14 |
A |
G |
1: 181,769,407 (GRCm38) |
|
probably benign |
Het |
| Dnase1 |
T |
C |
16: 4,038,946 (GRCm38) |
V147A |
probably damaging |
Het |
| Dusp8 |
T |
C |
7: 142,082,054 (GRCm38) |
|
probably benign |
Het |
| Fer1l6 |
T |
C |
15: 58,662,787 (GRCm38) |
Y1828H |
probably damaging |
Het |
| Flvcr1 |
A |
G |
1: 191,008,191 (GRCm38) |
V544A |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,687,209 (GRCm38) |
V311A |
probably benign |
Het |
| Glud1 |
G |
A |
14: 34,334,268 (GRCm38) |
G300S |
probably benign |
Het |
| Gm4847 |
C |
T |
1: 166,630,486 (GRCm38) |
V433I |
probably benign |
Het |
| Gstm3 |
T |
G |
3: 107,967,840 (GRCm38) |
Y62S |
probably damaging |
Het |
| Gtse1 |
C |
T |
15: 85,862,435 (GRCm38) |
P151S |
probably benign |
Het |
| Herc2 |
T |
C |
7: 56,207,812 (GRCm38) |
S4048P |
probably benign |
Het |
| Hp1bp3 |
T |
A |
4: 138,221,683 (GRCm38) |
I19K |
probably benign |
Het |
| Htr7 |
C |
A |
19: 36,041,540 (GRCm38) |
|
probably benign |
Het |
| Il1a |
C |
T |
2: 129,309,074 (GRCm38) |
D10N |
probably damaging |
Het |
| Il22ra2 |
A |
T |
10: 19,624,458 (GRCm38) |
N39I |
probably damaging |
Het |
| Kcnn4 |
T |
C |
7: 24,379,255 (GRCm38) |
C267R |
possibly damaging |
Het |
| Larp1 |
A |
G |
11: 58,055,473 (GRCm38) |
K879R |
possibly damaging |
Het |
| Lcn5 |
T |
A |
2: 25,661,405 (GRCm38) |
|
probably benign |
Het |
| Lep |
T |
A |
6: 29,068,972 (GRCm38) |
C7* |
probably null |
Het |
| Magi2 |
A |
T |
5: 20,611,055 (GRCm38) |
Y747F |
probably benign |
Het |
| Mast4 |
T |
C |
13: 102,742,058 (GRCm38) |
T1223A |
probably damaging |
Het |
| Mcc |
C |
T |
18: 44,445,933 (GRCm38) |
E803K |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,611,508 (GRCm38) |
I796T |
probably benign |
Het |
| Myef2 |
A |
T |
2: 125,108,978 (GRCm38) |
D312E |
probably benign |
Het |
| Myl3 |
A |
C |
9: 110,767,929 (GRCm38) |
D119A |
probably damaging |
Het |
| Myo19 |
T |
A |
11: 84,888,169 (GRCm38) |
|
probably null |
Het |
| Naa15 |
T |
G |
3: 51,470,219 (GRCm38) |
H763Q |
probably damaging |
Het |
| Pde5a |
C |
T |
3: 122,824,902 (GRCm38) |
|
probably benign |
Het |
| Plpp2 |
C |
T |
10: 79,527,244 (GRCm38) |
R184H |
probably benign |
Het |
| Rab19 |
T |
G |
6: 39,389,687 (GRCm38) |
L179V |
probably damaging |
Het |
| Rims2 |
T |
A |
15: 39,534,966 (GRCm38) |
M1087K |
probably damaging |
Het |
| Riox2 |
C |
A |
16: 59,489,367 (GRCm38) |
D361E |
probably benign |
Het |
| Sh3rf1 |
T |
A |
8: 61,226,293 (GRCm38) |
V123E |
probably damaging |
Het |
| Slc35e1 |
A |
T |
8: 72,484,709 (GRCm38) |
N318K |
probably damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,763,602 (GRCm38) |
E604V |
probably benign |
Het |
| Srp72 |
T |
C |
5: 76,987,885 (GRCm38) |
S221P |
probably damaging |
Het |
| Tbx19 |
A |
T |
1: 165,160,520 (GRCm38) |
S15T |
possibly damaging |
Het |
| Tcea2 |
A |
G |
2: 181,685,817 (GRCm38) |
T112A |
probably benign |
Het |
| Tesk1 |
T |
A |
4: 43,445,368 (GRCm38) |
D230E |
probably damaging |
Het |
| Tm4sf5 |
C |
T |
11: 70,510,712 (GRCm38) |
A179V |
probably damaging |
Het |
| Tnr |
G |
T |
1: 159,852,416 (GRCm38) |
G320V |
probably damaging |
Het |
| Trappc11 |
A |
T |
8: 47,503,320 (GRCm38) |
C874S |
possibly damaging |
Het |
| Trpm3 |
T |
A |
19: 22,914,446 (GRCm38) |
Y885N |
probably damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,265,717 (GRCm38) |
A182T |
probably benign |
Het |
| Xpo5 |
T |
C |
17: 46,204,786 (GRCm38) |
|
probably benign |
Het |
| Zfp637 |
C |
A |
6: 117,845,668 (GRCm38) |
H252Q |
probably damaging |
Het |
| Zfp646 |
T |
A |
7: 127,880,731 (GRCm38) |
D693E |
probably damaging |
Het |
|
| Other mutations in Unc5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Unc5a
|
APN |
13 |
54,995,820 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00339:Unc5a
|
APN |
13 |
54,995,815 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
IGL00924:Unc5a
|
APN |
13 |
55,004,514 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL01411:Unc5a
|
APN |
13 |
55,002,928 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01511:Unc5a
|
APN |
13 |
55,004,816 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02430:Unc5a
|
APN |
13 |
55,002,482 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02996:Unc5a
|
APN |
13 |
54,996,178 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03188:Unc5a
|
APN |
13 |
54,999,503 (GRCm38) |
missense |
probably damaging |
0.98 |
|
PIT1430001:Unc5a
|
UTSW |
13 |
55,003,896 (GRCm38) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Unc5a
|
UTSW |
13 |
54,995,868 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0009:Unc5a
|
UTSW |
13 |
55,002,879 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0028:Unc5a
|
UTSW |
13 |
55,003,913 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R0505:Unc5a
|
UTSW |
13 |
55,004,954 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0744:Unc5a
|
UTSW |
13 |
55,003,933 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R0745:Unc5a
|
UTSW |
13 |
55,005,255 (GRCm38) |
frame shift |
probably null |
|
|
R0836:Unc5a
|
UTSW |
13 |
55,003,933 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1018:Unc5a
|
UTSW |
13 |
54,990,952 (GRCm38) |
missense |
possibly damaging |
0.81 |
|
R1432:Unc5a
|
UTSW |
13 |
55,004,472 (GRCm38) |
unclassified |
probably benign |
|
|
R1469:Unc5a
|
UTSW |
13 |
54,996,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1469:Unc5a
|
UTSW |
13 |
54,996,419 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1691:Unc5a
|
UTSW |
13 |
55,002,924 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2132:Unc5a
|
UTSW |
13 |
54,991,083 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4020:Unc5a
|
UTSW |
13 |
55,003,369 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4080:Unc5a
|
UTSW |
13 |
55,004,481 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R4720:Unc5a
|
UTSW |
13 |
55,003,883 (GRCm38) |
missense |
probably null |
1.00 |
|
R4876:Unc5a
|
UTSW |
13 |
54,997,229 (GRCm38) |
missense |
probably benign |
|
|
R4953:Unc5a
|
UTSW |
13 |
54,999,870 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5112:Unc5a
|
UTSW |
13 |
55,003,418 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5593:Unc5a
|
UTSW |
13 |
55,004,934 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5903:Unc5a
|
UTSW |
13 |
54,999,690 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6521:Unc5a
|
UTSW |
13 |
55,004,935 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6723:Unc5a
|
UTSW |
13 |
54,995,889 (GRCm38) |
missense |
probably benign |
0.23 |
|
R7038:Unc5a
|
UTSW |
13 |
55,004,484 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7065:Unc5a
|
UTSW |
13 |
54,991,083 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7241:Unc5a
|
UTSW |
13 |
54,991,020 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7365:Unc5a
|
UTSW |
13 |
54,996,573 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R7487:Unc5a
|
UTSW |
13 |
54,996,549 (GRCm38) |
missense |
probably benign |
0.40 |
|
R7980:Unc5a
|
UTSW |
13 |
54,999,506 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R8032:Unc5a
|
UTSW |
13 |
54,996,486 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R8087:Unc5a
|
UTSW |
13 |
54,996,172 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8910:Unc5a
|
UTSW |
13 |
55,003,588 (GRCm38) |
missense |
possibly damaging |
0.66 |
|
R9126:Unc5a
|
UTSW |
13 |
54,997,961 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R9492:Unc5a
|
UTSW |
13 |
55,002,475 (GRCm38) |
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 |
Incidental Mutation