Incidental Mutation 'R8910:Unc5a'
| ID |
678577 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Unc5a
|
| Ensembl Gene |
ENSMUSG00000025876 |
| Gene Name |
unc-5 netrin receptor A |
| Synonyms |
Unc5h1 |
| MMRRC Submission |
068701-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8910 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
55097224-55153831 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55151401 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 695
(E695G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026994
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026994]
[ENSMUST00000052949]
[ENSMUST00000109994]
[ENSMUST00000123097]
[ENSMUST00000126234]
[ENSMUST00000132309]
[ENSMUST00000136852]
[ENSMUST00000137967]
[ENSMUST00000153665]
|
| AlphaFold |
Q8K1S4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026994
AA Change: E695G
PolyPhen 2
Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000026994
Gene: ENSMUSG00000025876
AA Change: E695G
| 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 |
possibly damaging
Transcript: ENSMUST00000109994
AA Change: E639G
PolyPhen 2
Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105621
Gene: ENSMUSG00000025876
AA Change: E639G
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
A |
G |
13: 77,471,768 (GRCm39) |
I1058V |
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,189,030 (GRCm39) |
E809G |
probably damaging |
Het |
| Akap12 |
A |
T |
10: 4,263,822 (GRCm39) |
Q77L |
probably benign |
Het |
| Aldh5a1 |
A |
G |
13: 25,102,599 (GRCm39) |
V288A |
probably damaging |
Het |
| Alox5 |
C |
A |
6: 116,389,510 (GRCm39) |
E586* |
probably null |
Het |
| Anxa2r1 |
T |
A |
13: 120,508,356 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,934,108 (GRCm39) |
F598S |
|
Het |
| Btc |
A |
C |
5: 91,508,671 (GRCm39) |
M157R |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,344,223 (GRCm39) |
N908S |
probably benign |
Het |
| Cd244a |
C |
A |
1: 171,386,941 (GRCm39) |
H17N |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,575,240 (GRCm39) |
L5P |
probably benign |
Het |
| Cep15 |
A |
G |
14: 12,285,444 (GRCm38) |
H10R |
probably benign |
Het |
| Cept1 |
A |
C |
3: 106,446,565 (GRCm39) |
S94A |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,632,497 (GRCm39) |
M507T |
probably benign |
Het |
| Cpne4 |
A |
G |
9: 104,799,706 (GRCm39) |
|
probably benign |
Het |
| Dffb |
T |
C |
4: 154,057,416 (GRCm39) |
D87G |
possibly damaging |
Het |
| Dlgap1 |
C |
T |
17: 71,093,815 (GRCm39) |
T712I |
probably damaging |
Het |
| Dnhd1 |
A |
C |
7: 105,332,904 (GRCm39) |
H155P |
possibly damaging |
Het |
| Dpyd |
A |
G |
3: 118,404,167 (GRCm39) |
K38R |
probably benign |
Het |
| Evx1 |
C |
T |
6: 52,293,746 (GRCm39) |
R305C |
probably damaging |
Het |
| Ezr |
A |
G |
17: 7,023,299 (GRCm39) |
L47P |
probably damaging |
Het |
| Fabp6 |
C |
T |
11: 43,492,335 (GRCm39) |
A2T |
possibly damaging |
Het |
| Fam78a |
G |
A |
2: 31,959,681 (GRCm39) |
T143M |
probably damaging |
Het |
| Fam83h |
C |
T |
15: 75,874,844 (GRCm39) |
G831D |
probably benign |
Het |
| Fermt2 |
G |
A |
14: 45,702,389 (GRCm39) |
A465V |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,715,855 (GRCm39) |
S358P |
probably benign |
Het |
| Frem1 |
C |
A |
4: 82,868,694 (GRCm39) |
G1429V |
probably benign |
Het |
| Fst |
T |
A |
13: 114,590,245 (GRCm39) |
|
probably benign |
Het |
| Gfpt1 |
T |
C |
6: 87,030,787 (GRCm39) |
I57T |
probably benign |
Het |
| Gimap6 |
A |
G |
6: 48,679,388 (GRCm39) |
I216T |
probably damaging |
Het |
| Gm10267 |
T |
A |
18: 44,289,511 (GRCm39) |
N73I |
possibly damaging |
Het |
| H2-M2 |
G |
A |
17: 37,792,413 (GRCm39) |
T286I |
probably damaging |
Het |
| Hgs |
T |
C |
11: 120,369,202 (GRCm39) |
|
probably null |
Het |
| Klra6 |
T |
C |
6: 129,993,647 (GRCm39) |
E208G |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,812,213 (GRCm39) |
T753S |
probably benign |
Het |
| Larp6 |
A |
G |
9: 60,620,526 (GRCm39) |
E13G |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,960,855 (GRCm39) |
I806V |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,468,009 (GRCm39) |
N142S |
possibly damaging |
Het |
| Myo3a |
A |
G |
2: 22,464,280 (GRCm39) |
T1112A |
probably benign |
Het |
| Or4b1b |
C |
A |
2: 90,126,848 (GRCm39) |
R119L |
possibly damaging |
Het |
| Pelp1 |
A |
T |
11: 70,287,461 (GRCm39) |
M449K |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,144,768 (GRCm39) |
V795A |
probably damaging |
Het |
| Ppp4r3b |
G |
T |
11: 29,146,290 (GRCm39) |
M372I |
probably null |
Het |
| Ptprk |
T |
C |
10: 28,368,993 (GRCm39) |
V655A |
possibly damaging |
Het |
| Rad51d |
T |
C |
11: 82,773,793 (GRCm39) |
R166G |
probably damaging |
Het |
| Rbm19 |
T |
A |
5: 120,271,844 (GRCm39) |
Y650N |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,132,741 (GRCm39) |
K204E |
|
Het |
| Ryr1 |
A |
G |
7: 28,771,340 (GRCm39) |
L2567P |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,338,883 (GRCm39) |
S599C |
probably damaging |
Het |
| Slc7a15 |
T |
A |
12: 8,589,117 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,182,716 (GRCm39) |
T12A |
probably benign |
Het |
| Tbc1d10b |
T |
C |
7: 126,806,938 (GRCm39) |
T200A |
probably benign |
Het |
| Tex21 |
C |
T |
12: 76,263,533 (GRCm39) |
|
probably benign |
Het |
| Thap4 |
T |
C |
1: 93,642,666 (GRCm39) |
H515R |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,688,252 (GRCm39) |
Q1237R |
probably damaging |
Het |
| Tppp3 |
A |
G |
8: 106,194,924 (GRCm39) |
V69A |
probably benign |
Het |
| Wtip |
G |
A |
7: 33,832,063 (GRCm39) |
P141L |
possibly damaging |
Het |
| Wwp1 |
A |
T |
4: 19,627,741 (GRCm39) |
M718K |
possibly damaging |
Het |
| Zbtb25 |
A |
C |
12: 76,395,908 (GRCm39) |
V438G |
probably damaging |
Het |
| Zfp444 |
T |
C |
7: 6,187,026 (GRCm39) |
L46P |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,233 (GRCm39) |
H1060R |
probably benign |
Het |
| Zkscan14 |
A |
G |
5: 145,132,190 (GRCm39) |
F447S |
probably damaging |
Het |
|
| Other mutations in Unc5a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Unc5a
|
APN |
13 |
55,143,633 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00339:Unc5a
|
APN |
13 |
55,143,628 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00924:Unc5a
|
APN |
13 |
55,152,327 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01411:Unc5a
|
APN |
13 |
55,150,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01511:Unc5a
|
APN |
13 |
55,152,629 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02430:Unc5a
|
APN |
13 |
55,150,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02996:Unc5a
|
APN |
13 |
55,143,991 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03188:Unc5a
|
APN |
13 |
55,147,316 (GRCm39) |
missense |
probably damaging |
0.98 |
|
PIT1430001:Unc5a
|
UTSW |
13 |
55,151,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Unc5a
|
UTSW |
13 |
55,143,681 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0009:Unc5a
|
UTSW |
13 |
55,150,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Unc5a
|
UTSW |
13 |
55,150,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0028:Unc5a
|
UTSW |
13 |
55,151,726 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R0505:Unc5a
|
UTSW |
13 |
55,152,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0744:Unc5a
|
UTSW |
13 |
55,151,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0745:Unc5a
|
UTSW |
13 |
55,153,068 (GRCm39) |
frame shift |
probably null |
|
|
R0836:Unc5a
|
UTSW |
13 |
55,151,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1018:Unc5a
|
UTSW |
13 |
55,138,765 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R1432:Unc5a
|
UTSW |
13 |
55,152,285 (GRCm39) |
unclassified |
probably benign |
|
|
R1469:Unc5a
|
UTSW |
13 |
55,144,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Unc5a
|
UTSW |
13 |
55,144,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1691:Unc5a
|
UTSW |
13 |
55,150,737 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Unc5a
|
UTSW |
13 |
55,138,896 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4020:Unc5a
|
UTSW |
13 |
55,151,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4080:Unc5a
|
UTSW |
13 |
55,152,294 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4720:Unc5a
|
UTSW |
13 |
55,151,696 (GRCm39) |
missense |
probably null |
1.00 |
|
R4876:Unc5a
|
UTSW |
13 |
55,145,042 (GRCm39) |
missense |
probably benign |
|
|
R4953:Unc5a
|
UTSW |
13 |
55,147,683 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5112:Unc5a
|
UTSW |
13 |
55,151,231 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5593:Unc5a
|
UTSW |
13 |
55,152,747 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5903:Unc5a
|
UTSW |
13 |
55,147,503 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6521:Unc5a
|
UTSW |
13 |
55,152,748 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6723:Unc5a
|
UTSW |
13 |
55,143,702 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7038:Unc5a
|
UTSW |
13 |
55,152,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Unc5a
|
UTSW |
13 |
55,138,896 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7241:Unc5a
|
UTSW |
13 |
55,138,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7365:Unc5a
|
UTSW |
13 |
55,144,386 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7487:Unc5a
|
UTSW |
13 |
55,144,362 (GRCm39) |
missense |
probably benign |
0.40 |
|
R7980:Unc5a
|
UTSW |
13 |
55,147,319 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8032:Unc5a
|
UTSW |
13 |
55,144,299 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8087:Unc5a
|
UTSW |
13 |
55,143,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9126:Unc5a
|
UTSW |
13 |
55,145,774 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9492:Unc5a
|
UTSW |
13 |
55,150,288 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATGCTCTCAAGGTACTGCC -3'
(R):5'- TGAGTGCCATTCCAGATGTG -3'
Sequencing Primer
(F):5'- AAGGTACTGCCGCGCAC -3'
(R):5'- TTCCAGATGTGGTAAAAAGGGATCTC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation