Incidental Mutation 'R9524:Unc5d'
| ID |
719089 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5d
|
| Ensembl Gene |
ENSMUSG00000063626 |
| Gene Name |
unc-5 netrin receptor D |
| Synonyms |
D930029E11Rik, Unc5h4 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R9524 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
29136745-29709664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 29365639 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 115
(N115K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168630]
[ENSMUST00000209401]
[ENSMUST00000210298]
[ENSMUST00000210785]
[ENSMUST00000211448]
|
| AlphaFold |
Q8K1S2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000168630
AA Change: N115K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: N115K
| 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 damaging
Transcript: ENSMUST00000209401
AA Change: N115K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210298
AA Change: N115K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210785
AA Change: N115K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211448
AA Change: N115K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930438A08Rik |
T |
G |
11: 58,180,594 (GRCm39) |
|
probably null |
Het |
| Adra2c |
G |
A |
5: 35,438,143 (GRCm39) |
R305Q |
probably benign |
Het |
| Ahnak |
A |
G |
19: 9,014,617 (GRCm39) |
D147G |
|
Het |
| Arhgap30 |
T |
A |
1: 171,225,114 (GRCm39) |
S57T |
probably damaging |
Het |
| Aspm |
T |
C |
1: 139,408,607 (GRCm39) |
I2498T |
probably damaging |
Het |
| Atr |
C |
T |
9: 95,792,610 (GRCm39) |
A1644V |
possibly damaging |
Het |
| Cc2d1a |
G |
T |
8: 84,870,744 (GRCm39) |
D101E |
probably benign |
Het |
| Cntfr |
A |
G |
4: 41,661,995 (GRCm39) |
L249P |
probably damaging |
Het |
| D130043K22Rik |
T |
C |
13: 25,071,876 (GRCm39) |
I940T |
possibly damaging |
Het |
| Dnah12 |
T |
G |
14: 26,572,494 (GRCm39) |
C2862G |
probably null |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,976,309 (GRCm39) |
F1247L |
possibly damaging |
Het |
| Dpp10 |
T |
C |
1: 123,264,611 (GRCm39) |
Q737R |
probably damaging |
Het |
| Dpp3 |
A |
G |
19: 4,959,897 (GRCm39) |
V673A |
possibly damaging |
Het |
| Eif2a |
A |
T |
3: 58,448,467 (GRCm39) |
K100I |
possibly damaging |
Het |
| Flnc |
C |
A |
6: 29,461,109 (GRCm39) |
N2694K |
probably damaging |
Het |
| Fv1 |
T |
A |
4: 147,953,768 (GRCm39) |
D111E |
possibly damaging |
Het |
| Gcnt3 |
G |
A |
9: 69,941,569 (GRCm39) |
A333V |
probably damaging |
Het |
| Gpr151 |
T |
C |
18: 42,712,710 (GRCm39) |
|
probably benign |
Het |
| Gxylt2 |
A |
G |
6: 100,727,416 (GRCm39) |
T177A |
probably benign |
Het |
| Hnmt |
G |
A |
2: 23,893,880 (GRCm39) |
L205F |
possibly damaging |
Het |
| Ikbkb |
A |
T |
8: 23,172,740 (GRCm39) |
|
probably null |
Het |
| Ikzf2 |
T |
C |
1: 69,578,337 (GRCm39) |
S391G |
probably benign |
Het |
| Kif26a |
C |
T |
12: 112,140,286 (GRCm39) |
T505M |
probably damaging |
Het |
| Kif3b |
A |
T |
2: 153,159,460 (GRCm39) |
K420N |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,730,294 (GRCm39) |
V3341A |
unknown |
Het |
| Lce1i |
T |
C |
3: 92,685,081 (GRCm39) |
K32E |
unknown |
Het |
| Lmf1 |
A |
G |
17: 25,881,514 (GRCm39) |
Y521C |
probably damaging |
Het |
| Mki67 |
C |
T |
7: 135,305,913 (GRCm39) |
C655Y |
probably damaging |
Het |
| Morc3 |
T |
A |
16: 93,667,401 (GRCm39) |
V593E |
probably benign |
Het |
| Muc16 |
A |
G |
9: 18,497,314 (GRCm39) |
F6613L |
probably benign |
Het |
| Naip1 |
G |
A |
13: 100,563,101 (GRCm39) |
T688I |
probably benign |
Het |
| Or2n1d |
T |
A |
17: 38,646,540 (GRCm39) |
L164* |
probably null |
Het |
| Otop2 |
T |
A |
11: 115,214,503 (GRCm39) |
C87S |
probably benign |
Het |
| Picalm |
T |
A |
7: 89,810,484 (GRCm39) |
L97* |
probably null |
Het |
| Pik3c2g |
T |
A |
6: 139,606,768 (GRCm39) |
W272R |
probably damaging |
Het |
| Plekhg4 |
G |
A |
8: 106,101,398 (GRCm39) |
G20R |
unknown |
Het |
| Ppp1r35 |
G |
A |
5: 137,777,304 (GRCm39) |
A17T |
unknown |
Het |
| Ppp2r5e |
A |
T |
12: 75,509,167 (GRCm39) |
Y371N |
possibly damaging |
Het |
| Rexo1 |
T |
C |
10: 80,386,872 (GRCm39) |
E62G |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,556,973 (GRCm39) |
E1622G |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,723,600 (GRCm39) |
E4181G |
probably damaging |
Het |
| Saxo1 |
C |
A |
4: 86,397,132 (GRCm39) |
M135I |
probably benign |
Het |
| Shank2 |
C |
A |
7: 143,964,183 (GRCm39) |
P597Q |
possibly damaging |
Het |
| Shld2 |
G |
A |
14: 33,971,245 (GRCm39) |
Q547* |
probably null |
Het |
| Slc44a1 |
G |
A |
4: 53,542,389 (GRCm39) |
V308I |
probably benign |
Het |
| Slc6a21 |
A |
G |
7: 44,937,785 (GRCm39) |
H367R |
probably benign |
Het |
| Snx11 |
G |
T |
11: 96,660,023 (GRCm39) |
T222K |
probably benign |
Het |
| Snx4 |
C |
T |
16: 33,112,228 (GRCm39) |
Q388* |
probably null |
Het |
| Sulf1 |
T |
C |
1: 12,918,622 (GRCm39) |
L831P |
probably damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,485,018 (GRCm39) |
V2D |
|
Het |
| Unc5c |
T |
C |
3: 141,494,683 (GRCm39) |
V406A |
possibly damaging |
Het |
| Usp28 |
C |
A |
9: 48,947,026 (GRCm39) |
T819N |
probably damaging |
Het |
| Usp42 |
T |
C |
5: 143,702,704 (GRCm39) |
D639G |
possibly damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,897,564 (GRCm39) |
M193K |
possibly damaging |
Het |
| Vmn2r12 |
A |
G |
5: 109,239,823 (GRCm39) |
Y247H |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,822,814 (GRCm39) |
D2989G |
|
Het |
| Vsig2 |
A |
G |
9: 37,455,335 (GRCm39) |
E295G |
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 102,055,333 (GRCm39) |
N1579I |
probably benign |
Het |
| Zfp521 |
T |
C |
18: 13,980,173 (GRCm39) |
D80G |
possibly damaging |
Het |
| Zfp663 |
A |
C |
2: 165,195,607 (GRCm39) |
L204R |
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 |
|
R4093:Unc5d
|
UTSW |
8 |
29,334,865 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
|
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'- GTCGCCTCCAAAGATCATCC -3'
(R):5'- GTGCACTCTACAGCCTACTC -3'
Sequencing Primer
(F):5'- TCCAAAGATCATCCCCAAAGGTAC -3'
(R):5'- TACAGCCTACTCAGCTAGTGG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation