Incidental Mutation 'R8175:Unc5d'
| ID |
634292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5d
|
| Ensembl Gene |
ENSMUSG00000063626 |
| Gene Name |
unc-5 netrin receptor D |
| Synonyms |
D930029E11Rik, Unc5h4 |
| MMRRC Submission |
067600-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.316)
|
| Stock # |
R8175 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
29136745-29709664 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 29334855 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 157
(K157N)
|
| 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: K157N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128521
Gene: ENSMUSG00000063626
AA Change: K157N
| 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: K157N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210298
AA Change: K157N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210785
AA Change: K157N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211448
AA Change: K157N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts15 |
C |
T |
9: 30,815,952 (GRCm39) |
V635M |
probably damaging |
Het |
| Aim2 |
A |
T |
1: 173,282,920 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ank3 |
T |
C |
10: 69,729,339 (GRCm39) |
V700A |
unknown |
Het |
| Arhgap10 |
T |
C |
8: 78,037,471 (GRCm39) |
T586A |
probably benign |
Het |
| Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
| Arhgef4 |
G |
A |
1: 34,849,455 (GRCm39) |
V349I |
probably benign |
Het |
| Atp1a1 |
A |
G |
3: 101,492,170 (GRCm39) |
F569L |
possibly damaging |
Het |
| Btbd10 |
T |
A |
7: 112,921,999 (GRCm39) |
|
probably null |
Het |
| Capza2 |
G |
A |
6: 17,665,381 (GRCm39) |
D270N |
probably benign |
Het |
| Cobll1 |
T |
C |
2: 64,929,575 (GRCm39) |
N584D |
probably benign |
Het |
| Coro1c |
T |
A |
5: 113,988,876 (GRCm39) |
I156F |
probably benign |
Het |
| Cpsf3 |
T |
C |
12: 21,350,178 (GRCm39) |
I299T |
probably benign |
Het |
| Cse1l |
T |
A |
2: 166,785,128 (GRCm39) |
|
probably null |
Het |
| D5Ertd579e |
T |
C |
5: 36,772,814 (GRCm39) |
E527G |
probably damaging |
Het |
| Dcbld2 |
T |
C |
16: 58,253,710 (GRCm39) |
L149S |
possibly damaging |
Het |
| Ecpas |
C |
T |
4: 58,872,756 (GRCm39) |
V182M |
probably damaging |
Het |
| Egflam |
C |
A |
15: 7,241,633 (GRCm39) |
W925L |
probably damaging |
Het |
| Ehmt2 |
A |
G |
17: 35,130,396 (GRCm39) |
N1071D |
probably damaging |
Het |
| Eif3g |
A |
T |
9: 20,809,026 (GRCm39) |
S93T |
probably damaging |
Het |
| Eipr1 |
A |
G |
12: 28,913,106 (GRCm39) |
E269G |
|
Het |
| Eng |
C |
A |
2: 32,568,934 (GRCm39) |
T487K |
possibly damaging |
Het |
| Epb41l3 |
T |
C |
17: 69,517,361 (GRCm39) |
Y130H |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,019,834 (GRCm39) |
R770* |
probably null |
Het |
| Fam227a |
A |
G |
15: 79,524,861 (GRCm39) |
F201S |
probably damaging |
Het |
| Fam50b |
G |
A |
13: 34,930,847 (GRCm39) |
E108K |
probably benign |
Het |
| Fcgbpl1 |
T |
A |
7: 27,863,873 (GRCm39) |
C2548* |
probably null |
Het |
| Fn1 |
A |
G |
1: 71,638,824 (GRCm39) |
I1971T |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,815,088 (GRCm39) |
F3607Y |
probably benign |
Het |
| Fsip2 |
A |
T |
2: 82,818,021 (GRCm39) |
I4585L |
probably benign |
Het |
| Gas1 |
T |
C |
13: 60,323,932 (GRCm39) |
N275S |
|
Het |
| Hus1b |
A |
G |
13: 31,131,215 (GRCm39) |
V148A |
probably benign |
Het |
| Ighmbp2 |
A |
G |
19: 3,316,365 (GRCm39) |
L575P |
possibly damaging |
Het |
| Igsf21 |
A |
T |
4: 139,755,542 (GRCm39) |
F371Y |
probably damaging |
Het |
| Itprid2 |
A |
G |
2: 79,488,496 (GRCm39) |
R860G |
probably damaging |
Het |
| Jade1 |
G |
T |
3: 41,567,723 (GRCm39) |
R597L |
probably benign |
Het |
| Krt4 |
A |
G |
15: 101,828,984 (GRCm39) |
|
probably null |
Het |
| Lap3 |
T |
C |
5: 45,666,833 (GRCm39) |
S412P |
probably benign |
Het |
| Lifr |
A |
G |
15: 7,216,496 (GRCm39) |
T824A |
probably damaging |
Het |
| Megf6 |
T |
A |
4: 154,353,076 (GRCm39) |
C1307* |
probably null |
Het |
| Ndufb10 |
A |
T |
17: 24,943,166 (GRCm39) |
V48E |
possibly damaging |
Het |
| Nelfa |
T |
C |
5: 34,079,357 (GRCm39) |
K72R |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,886,786 (GRCm39) |
V7767I |
unknown |
Het |
| Pptc7 |
T |
A |
5: 122,457,882 (GRCm39) |
C284S |
probably benign |
Het |
| Pxdc1 |
A |
G |
13: 34,812,798 (GRCm39) |
S218P |
probably damaging |
Het |
| Rabep1 |
T |
A |
11: 70,775,755 (GRCm39) |
W110R |
probably damaging |
Het |
| Ren1 |
T |
C |
1: 133,282,007 (GRCm39) |
Y79H |
possibly damaging |
Het |
| Ripor3 |
T |
C |
2: 167,825,679 (GRCm39) |
S760G |
probably benign |
Het |
| Setd1a |
A |
G |
7: 127,395,415 (GRCm39) |
E1327G |
unknown |
Het |
| Setd5 |
T |
C |
6: 113,091,874 (GRCm39) |
W232R |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,260,790 (GRCm39) |
H171Q |
probably damaging |
Het |
| Smoc1 |
A |
G |
12: 81,214,440 (GRCm39) |
D285G |
probably damaging |
Het |
| Taf10 |
T |
C |
7: 105,393,134 (GRCm39) |
Y97C |
probably damaging |
Het |
| Tgfbr2 |
G |
A |
9: 115,939,023 (GRCm39) |
S293L |
possibly damaging |
Het |
| Tmem181a |
A |
G |
17: 6,346,075 (GRCm39) |
I190V |
probably benign |
Het |
| Traf6 |
C |
T |
2: 101,521,825 (GRCm39) |
T220I |
possibly damaging |
Het |
| Ube4b |
T |
C |
4: 149,435,973 (GRCm39) |
N716D |
probably benign |
Het |
| Usp19 |
G |
A |
9: 108,377,377 (GRCm39) |
R1255H |
probably damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,238,349 (GRCm39) |
I464F |
probably damaging |
Het |
| Zbtb20 |
A |
T |
16: 43,397,443 (GRCm39) |
|
probably benign |
Het |
| Zfp790 |
T |
G |
7: 29,529,205 (GRCm39) |
L630R |
possibly 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 |
|
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'- TCAAGCCTTGCAAGGGAAAC -3'
(R):5'- GGTGCATTTATGAGTCTTGGAAAAG -3'
Sequencing Primer
(F):5'- ACCAAGAATTCCGGGTTATGCTC -3'
(R):5'- TATGAGTCTTGGAAAAGTAGAACTGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation