Incidental Mutation 'R0761:Unc5d'
| ID |
262264 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5d
|
| Ensembl Gene |
ENSMUSG00000063626 |
| Gene Name |
unc-5 netrin receptor D |
| Synonyms |
D930029E11Rik, Unc5h4 |
| MMRRC Submission |
038941-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.322)
|
| Stock # |
R0761 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
29136745-29709664 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 29186560 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147306
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000168630]
[ENSMUST00000209401]
[ENSMUST00000210298]
[ENSMUST00000210785]
[ENSMUST00000211448]
|
| AlphaFold |
Q8K1S2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000168630
|
| SMART Domains |
Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
| 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 null
Transcript: ENSMUST00000209401
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210298
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000210785
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000211448
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.7%
|
| Validation Efficiency |
100% (51/51) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,833 (GRCm39) |
Y133C |
probably benign |
Het |
| Adcy5 |
G |
A |
16: 35,091,195 (GRCm39) |
|
probably benign |
Het |
| Asb17 |
A |
G |
3: 153,550,052 (GRCm39) |
K28R |
probably damaging |
Het |
| Bbs10 |
G |
T |
10: 111,135,244 (GRCm39) |
C119F |
probably damaging |
Het |
| Camk2g |
G |
A |
14: 20,816,280 (GRCm39) |
Q119* |
probably null |
Het |
| Cdh18 |
A |
T |
15: 23,226,838 (GRCm39) |
I46L |
possibly damaging |
Het |
| Cimip2a |
T |
C |
2: 25,110,135 (GRCm39) |
|
probably benign |
Het |
| Clmn |
T |
A |
12: 104,747,817 (GRCm39) |
N577Y |
probably damaging |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Crocc |
T |
C |
4: 140,774,387 (GRCm39) |
E63G |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,757,087 (GRCm39) |
T965A |
probably benign |
Het |
| Cryzl2 |
A |
G |
1: 157,293,294 (GRCm39) |
I132V |
probably benign |
Het |
| Csgalnact2 |
T |
C |
6: 118,103,073 (GRCm39) |
|
probably benign |
Het |
| Ctr9 |
T |
C |
7: 110,645,479 (GRCm39) |
S569P |
probably damaging |
Het |
| Cul3 |
A |
G |
1: 80,255,203 (GRCm39) |
|
probably benign |
Het |
| Dcp2 |
G |
A |
18: 44,543,300 (GRCm39) |
S286N |
probably benign |
Het |
| Dgkz |
C |
T |
2: 91,775,696 (GRCm39) |
R189H |
probably benign |
Het |
| Dst |
A |
G |
1: 34,221,848 (GRCm39) |
T2551A |
probably benign |
Het |
| Kcna4 |
T |
A |
2: 107,126,417 (GRCm39) |
S384T |
probably benign |
Het |
| Klhl17 |
T |
C |
4: 156,317,204 (GRCm39) |
|
probably null |
Het |
| Kmt2e |
C |
A |
5: 23,708,032 (GRCm39) |
S1865* |
probably null |
Het |
| L3mbtl1 |
G |
A |
2: 162,807,967 (GRCm39) |
R534H |
probably damaging |
Het |
| Lmnb2 |
A |
T |
10: 80,742,088 (GRCm39) |
M1K |
probably null |
Het |
| Lrp1b |
T |
C |
2: 41,075,947 (GRCm39) |
D1784G |
probably damaging |
Het |
| Lrrc34 |
A |
G |
3: 30,685,425 (GRCm39) |
|
probably null |
Het |
| Megf10 |
C |
A |
18: 57,421,048 (GRCm39) |
Y895* |
probably null |
Het |
| Mesd |
G |
T |
7: 83,544,951 (GRCm39) |
A143S |
probably damaging |
Het |
| Mfap3l |
G |
T |
8: 61,124,615 (GRCm39) |
V286L |
possibly damaging |
Het |
| Mroh2a |
G |
A |
1: 88,171,672 (GRCm39) |
R770Q |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,542,489 (GRCm39) |
D717E |
probably benign |
Het |
| Nudt12 |
A |
T |
17: 59,318,064 (GRCm39) |
D60E |
probably benign |
Het |
| Nup205 |
C |
T |
6: 35,173,363 (GRCm39) |
|
probably benign |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or2j3 |
A |
T |
17: 38,616,282 (GRCm39) |
H23Q |
probably benign |
Het |
| Or4a75 |
T |
C |
2: 89,448,179 (GRCm39) |
D119G |
probably damaging |
Het |
| Or5w19 |
C |
T |
2: 87,698,880 (GRCm39) |
P182S |
possibly damaging |
Het |
| Pacs2 |
T |
A |
12: 113,023,688 (GRCm39) |
|
probably benign |
Het |
| Pcdha9 |
T |
A |
18: 37,133,016 (GRCm39) |
L695* |
probably null |
Het |
| Pira12 |
A |
T |
7: 3,896,978 (GRCm39) |
|
probably null |
Het |
| Pkd1l1 |
A |
G |
11: 8,804,375 (GRCm39) |
S1739P |
probably damaging |
Het |
| Polr1e |
C |
A |
4: 45,027,392 (GRCm39) |
D207E |
probably damaging |
Het |
| Polr3f |
T |
A |
2: 144,376,327 (GRCm39) |
V142E |
probably damaging |
Het |
| Psma6 |
T |
A |
12: 55,459,127 (GRCm39) |
W170R |
possibly damaging |
Het |
| Rev3l |
T |
C |
10: 39,750,191 (GRCm39) |
Y3114H |
probably benign |
Het |
| Rps6ka5 |
C |
T |
12: 100,537,141 (GRCm39) |
A530T |
probably damaging |
Het |
| Simc1 |
T |
C |
13: 54,674,387 (GRCm39) |
Y912H |
probably damaging |
Het |
| Tnfrsf1b |
T |
C |
4: 144,942,670 (GRCm39) |
D371G |
possibly damaging |
Het |
| Trank1 |
T |
C |
9: 111,195,681 (GRCm39) |
V1235A |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,577,102 (GRCm39) |
E24597G |
probably damaging |
Het |
| Ubr2 |
G |
A |
17: 47,294,242 (GRCm39) |
P297L |
probably damaging |
Het |
| Xpo4 |
A |
G |
14: 57,850,840 (GRCm39) |
F355L |
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 |
|
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 |
|
|
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 |
|
| Posted On |
2015-02-04 |
Incidental Mutation