Incidental Mutation 'R4093:Unc5d'
| ID |
368279 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5d
|
| Ensembl Gene |
ENSMUSG00000063626 |
| Gene Name |
unc-5 netrin receptor D |
| Synonyms |
D930029E11Rik, Unc5h4 |
| MMRRC Submission |
041627-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.316)
|
| Stock # |
R4093 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
29136745-29709664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29334865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 154
(Y154C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168630]
[ENSMUST00000209401]
[ENSMUST00000210298]
[ENSMUST00000210785]
[ENSMUST00000211448]
|
| AlphaFold |
Q8K1S2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168630
AA Change: Y154C
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: Y154C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
SCOP:d1cs6a2
|
52 |
146 |
5e-3 |
SMART |
|
IGc2
|
169 |
236 |
2.66e-8 |
SMART |
|
TSP1
|
253 |
304 |
2.29e-13 |
SMART |
|
TSP1
|
309 |
358 |
6.33e-7 |
SMART |
|
transmembrane domain
|
383 |
405 |
N/A |
INTRINSIC |
|
Pfam:ZU5
|
545 |
642 |
1.6e-33 |
PFAM |
|
DEATH
|
850 |
941 |
4.77e-11 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209401
AA Change: Y154C
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210298
AA Change: Y154C
PolyPhen 2
Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000210785
AA Change: Y154C
PolyPhen 2
Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211448
AA Change: Y154C
PolyPhen 2
Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)
|
| Meta Mutation Damage Score |
0.5278 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
92% (69/75) |
| MGI Phenotype |
PHENOTYPE: Mice exhibit impaired induced growth cone collapse response and accelerated radial migration of cortical neurons. [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 |
|---|
| Akap9 |
A |
G |
5: 4,093,996 (GRCm39) |
M2173V |
probably damaging |
Het |
| Alas1 |
G |
T |
9: 106,119,000 (GRCm39) |
|
probably null |
Het |
| Angpt1 |
T |
C |
15: 42,386,941 (GRCm39) |
T138A |
probably damaging |
Het |
| Atp2c2 |
G |
A |
8: 120,476,610 (GRCm39) |
|
probably null |
Het |
| Cadm2 |
A |
G |
16: 66,581,675 (GRCm39) |
V210A |
possibly damaging |
Het |
| Cfap70 |
A |
T |
14: 20,459,181 (GRCm39) |
D671E |
probably damaging |
Het |
| Chd2 |
C |
T |
7: 73,150,764 (GRCm39) |
E322K |
possibly damaging |
Het |
| Chrnd |
C |
T |
1: 87,118,729 (GRCm39) |
Q29* |
probably null |
Het |
| Cip2a |
T |
C |
16: 48,821,339 (GRCm39) |
|
probably benign |
Het |
| Cym |
A |
G |
3: 107,121,582 (GRCm39) |
S237P |
probably benign |
Het |
| D030068K23Rik |
A |
G |
8: 109,978,091 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma2 |
T |
A |
11: 98,541,677 (GRCm39) |
S135T |
probably benign |
Het |
| Hc |
A |
T |
2: 34,873,819 (GRCm39) |
Y158* |
probably null |
Het |
| Hoxb3 |
C |
A |
11: 96,236,926 (GRCm39) |
H335N |
probably damaging |
Het |
| Htr2a |
G |
A |
14: 74,943,789 (GRCm39) |
M456I |
probably benign |
Het |
| Ighv1-19 |
G |
A |
12: 114,672,350 (GRCm39) |
T90I |
probably damaging |
Het |
| Kansl3 |
C |
A |
1: 36,384,035 (GRCm39) |
S729I |
probably damaging |
Het |
| Kcnab1 |
T |
C |
3: 65,207,035 (GRCm39) |
I137T |
possibly damaging |
Het |
| Kcnt1 |
A |
T |
2: 25,767,927 (GRCm39) |
E12V |
probably damaging |
Het |
| Klk15 |
A |
T |
7: 43,588,204 (GRCm39) |
S171C |
possibly damaging |
Het |
| Lcn2 |
A |
T |
2: 32,277,728 (GRCm39) |
M1K |
probably null |
Het |
| Lrig1 |
T |
C |
6: 94,590,559 (GRCm39) |
D487G |
probably benign |
Het |
| Lrp8 |
T |
A |
4: 107,700,468 (GRCm39) |
C135* |
probably null |
Het |
| Lrrc31 |
C |
A |
3: 30,749,671 (GRCm39) |
S54I |
probably damaging |
Het |
| Ltbp4 |
A |
G |
7: 27,024,641 (GRCm39) |
V663A |
possibly damaging |
Het |
| Med27 |
G |
A |
2: 29,267,920 (GRCm39) |
|
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,362,933 (GRCm39) |
|
probably benign |
Het |
| Myt1 |
A |
T |
2: 181,453,191 (GRCm39) |
M799L |
probably damaging |
Het |
| Nlrc4 |
T |
C |
17: 74,752,953 (GRCm39) |
M477V |
probably benign |
Het |
| Npy4r |
T |
C |
14: 33,869,098 (GRCm39) |
I63M |
probably benign |
Het |
| Or2t43 |
A |
T |
11: 58,457,655 (GRCm39) |
I172N |
probably damaging |
Het |
| Or52e15 |
C |
T |
7: 104,645,842 (GRCm39) |
G90S |
probably benign |
Het |
| Or8b1b |
T |
A |
9: 38,375,379 (GRCm39) |
L14Q |
probably null |
Het |
| Or8s10 |
T |
C |
15: 98,335,563 (GRCm39) |
L71P |
probably damaging |
Het |
| Piezo1 |
A |
C |
8: 123,227,899 (GRCm39) |
|
probably null |
Het |
| Ppp1r12c |
T |
C |
7: 4,486,366 (GRCm39) |
E601G |
probably damaging |
Het |
| Proser1 |
T |
C |
3: 53,387,133 (GRCm39) |
|
probably null |
Het |
| Psme2 |
A |
T |
14: 55,825,734 (GRCm39) |
N143K |
probably benign |
Het |
| Pygo2 |
C |
A |
3: 89,340,571 (GRCm39) |
P323Q |
probably damaging |
Het |
| Rab11b |
T |
C |
17: 33,968,763 (GRCm39) |
T77A |
possibly damaging |
Het |
| Recql5 |
A |
G |
11: 115,795,714 (GRCm39) |
S190P |
probably benign |
Het |
| Serpina12 |
A |
G |
12: 104,004,183 (GRCm39) |
F150L |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,637,805 (GRCm39) |
S821G |
possibly damaging |
Het |
| Slc22a2 |
C |
T |
17: 12,831,281 (GRCm39) |
T357M |
probably damaging |
Het |
| Spag6l |
A |
C |
16: 16,646,888 (GRCm39) |
N39K |
probably benign |
Het |
| Srl |
A |
G |
16: 4,315,316 (GRCm39) |
S109P |
possibly damaging |
Het |
| Tagap |
A |
T |
17: 8,148,255 (GRCm39) |
H152L |
probably damaging |
Het |
| Tbx3 |
T |
A |
5: 119,818,813 (GRCm39) |
S463T |
probably benign |
Het |
| Tcaf2 |
A |
G |
6: 42,619,772 (GRCm39) |
L85P |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,544,979 (GRCm39) |
S2332C |
probably damaging |
Het |
| Trim60 |
A |
T |
8: 65,454,030 (GRCm39) |
M73K |
probably benign |
Het |
| Trpc1 |
T |
C |
9: 95,588,918 (GRCm39) |
T769A |
probably benign |
Het |
| Tubgcp4 |
T |
A |
2: 121,025,958 (GRCm39) |
L601Q |
probably benign |
Het |
| Vmn1r185 |
A |
T |
7: 26,311,208 (GRCm39) |
V99E |
probably damaging |
Het |
| Vmn1r57 |
G |
T |
7: 5,223,856 (GRCm39) |
S127I |
possibly damaging |
Het |
| Vmn1r62 |
T |
A |
7: 5,678,943 (GRCm39) |
M208K |
probably damaging |
Het |
| Vmn2r110 |
T |
C |
17: 20,803,642 (GRCm39) |
D311G |
possibly damaging |
Het |
| Vmn2r48 |
C |
A |
7: 9,676,185 (GRCm39) |
S432I |
probably benign |
Het |
| Vmn2r48 |
T |
A |
7: 9,676,186 (GRCm39) |
S432C |
probably damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,270,442 (GRCm39) |
V536A |
probably benign |
Het |
| Vstm2a |
A |
G |
11: 16,209,884 (GRCm39) |
T37A |
probably damaging |
Het |
| Wfs1 |
T |
C |
5: 37,124,809 (GRCm39) |
H694R |
probably damaging |
Het |
| Zdbf2 |
T |
C |
1: 63,348,940 (GRCm39) |
S2440P |
possibly damaging |
Het |
| Zfp61 |
A |
G |
7: 23,990,700 (GRCm39) |
|
probably null |
Het |
| Zfp64 |
T |
C |
2: 168,767,855 (GRCm39) |
T586A |
probably benign |
Het |
| Zfp943 |
T |
A |
17: 22,211,963 (GRCm39) |
C350S |
probably damaging |
Het |
|
| Other mutations in Unc5d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00093:Unc5d
|
APN |
8 |
29,209,854 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL00687:Unc5d
|
APN |
8 |
29,205,841 (GRCm39) |
splice site |
probably benign |
|
|
IGL00970:Unc5d
|
APN |
8 |
29,186,456 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL01992:Unc5d
|
APN |
8 |
29,142,819 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02024:Unc5d
|
APN |
8 |
29,142,855 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02080:Unc5d
|
APN |
8 |
29,381,316 (GRCm39) |
splice site |
probably null |
|
|
IGL02902:Unc5d
|
APN |
8 |
29,365,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02982:Unc5d
|
APN |
8 |
29,142,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0071:Unc5d
|
UTSW |
8 |
29,209,854 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0071:Unc5d
|
UTSW |
8 |
29,209,854 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R0761:Unc5d
|
UTSW |
8 |
29,186,560 (GRCm39) |
splice site |
probably null |
|
|
R0941:Unc5d
|
UTSW |
8 |
29,249,055 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R1086:Unc5d
|
UTSW |
8 |
29,365,658 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1625:Unc5d
|
UTSW |
8 |
29,173,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1635:Unc5d
|
UTSW |
8 |
29,250,777 (GRCm39) |
missense |
probably benign |
0.14 |
|
R1682:Unc5d
|
UTSW |
8 |
29,249,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1698:Unc5d
|
UTSW |
8 |
29,186,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2015:Unc5d
|
UTSW |
8 |
29,249,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Unc5d
|
UTSW |
8 |
29,365,557 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R2174:Unc5d
|
UTSW |
8 |
29,184,568 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2210:Unc5d
|
UTSW |
8 |
29,251,825 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3684:Unc5d
|
UTSW |
8 |
29,184,620 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3734:Unc5d
|
UTSW |
8 |
29,251,826 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4287:Unc5d
|
UTSW |
8 |
29,209,824 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4888:Unc5d
|
UTSW |
8 |
29,156,927 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5000:Unc5d
|
UTSW |
8 |
29,205,775 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5060:Unc5d
|
UTSW |
8 |
29,209,723 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5076:Unc5d
|
UTSW |
8 |
29,184,704 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5696:Unc5d
|
UTSW |
8 |
29,156,870 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6024:Unc5d
|
UTSW |
8 |
29,365,539 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6077:Unc5d
|
UTSW |
8 |
29,165,335 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6259:Unc5d
|
UTSW |
8 |
29,156,820 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6387:Unc5d
|
UTSW |
8 |
29,365,554 (GRCm39) |
nonsense |
probably null |
|
|
R7038:Unc5d
|
UTSW |
8 |
29,205,749 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7577:Unc5d
|
UTSW |
8 |
29,381,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7641:Unc5d
|
UTSW |
8 |
29,210,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8175:Unc5d
|
UTSW |
8 |
29,334,855 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8426:Unc5d
|
UTSW |
8 |
29,210,016 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8465:Unc5d
|
UTSW |
8 |
29,156,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8748:Unc5d
|
UTSW |
8 |
29,186,453 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9228:Unc5d
|
UTSW |
8 |
29,165,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9234:Unc5d
|
UTSW |
8 |
29,250,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9257:Unc5d
|
UTSW |
8 |
29,215,174 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9338:Unc5d
|
UTSW |
8 |
29,709,471 (GRCm39) |
unclassified |
probably benign |
|
|
R9524:Unc5d
|
UTSW |
8 |
29,365,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9732:Unc5d
|
UTSW |
8 |
29,381,319 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9738:Unc5d
|
UTSW |
8 |
29,214,332 (GRCm39) |
missense |
probably benign |
0.07 |
|
R9742:Unc5d
|
UTSW |
8 |
29,156,792 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9743:Unc5d
|
UTSW |
8 |
29,209,801 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0058:Unc5d
|
UTSW |
8 |
29,250,758 (GRCm39) |
missense |
probably benign |
0.12 |
|
X0060:Unc5d
|
UTSW |
8 |
29,184,704 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Z1176:Unc5d
|
UTSW |
8 |
29,249,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Unc5d
|
UTSW |
8 |
29,381,336 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAAGCCTTGCAAGGGAAAC -3'
(R):5'- GGTGCATTTATGAGTCTTGGAAAAG -3'
Sequencing Primer
(F):5'- ACCAAGAATTCCGGGTTATGCTC -3'
(R):5'- TATGAGTCTTGGAAAAGTAGAACTGG -3'
|
| Posted On |
2016-01-15 |
Incidental Mutation