Incidental Mutation 'R6578:Igdcc3'
| ID |
523879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Igdcc3
|
| Ensembl Gene |
ENSMUSG00000032394 |
| Gene Name |
immunoglobulin superfamily, DCC subclass, member 3 |
| Synonyms |
Punc, WI-14920, 2810401C09Rik |
| MMRRC Submission |
044702-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.125)
|
| Stock # |
R6578 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
65048471-65093154 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 65089301 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 499
(D499G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000149084
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034961]
[ENSMUST00000217371]
|
| AlphaFold |
Q8BQC3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034961
AA Change: D499G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034961
Gene: ENSMUSG00000032394
AA Change: D499G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
47 |
N/A |
INTRINSIC |
|
IGc2
|
66 |
136 |
1.28e-10 |
SMART |
|
IGc2
|
163 |
228 |
4.77e-10 |
SMART |
|
IGc2
|
262 |
326 |
8.06e-8 |
SMART |
|
IGc2
|
354 |
419 |
3.17e-15 |
SMART |
|
FN3
|
436 |
519 |
1.2e-13 |
SMART |
|
FN3
|
534 |
615 |
2.66e-6 |
SMART |
|
transmembrane domain
|
631 |
653 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217135
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000217371
AA Change: D499G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 96.8%
- 20x: 89.4%
|
| Validation Efficiency |
97% (37/38) |
| MGI Phenotype |
PHENOTYPE: Homozygotes for a gene trap mutation exhibit reduced performance on the rotarod, suggesting impaired cerebellar function. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034J05Rik |
G |
A |
6: 146,854,812 (GRCm39) |
R77* |
probably null |
Het |
| Aldh9a1 |
A |
G |
1: 167,183,328 (GRCm39) |
Y182C |
probably damaging |
Het |
| Alpk3 |
T |
A |
7: 80,728,432 (GRCm39) |
S521T |
probably benign |
Het |
| Ankzf1 |
A |
G |
1: 75,174,401 (GRCm39) |
R464G |
possibly damaging |
Het |
| Baz2b |
T |
C |
2: 59,799,623 (GRCm39) |
E232G |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,803,669 (GRCm39) |
S524G |
probably null |
Het |
| Casp1 |
A |
G |
9: 5,304,280 (GRCm39) |
K318R |
probably benign |
Het |
| Clock |
T |
A |
5: 76,364,556 (GRCm39) |
Q853L |
unknown |
Het |
| Clstn3 |
A |
G |
6: 124,427,663 (GRCm39) |
|
probably null |
Het |
| Ebpl |
A |
C |
14: 61,597,769 (GRCm39) |
V24G |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,319,014 (GRCm39) |
C568R |
probably damaging |
Het |
| Gcm2 |
A |
G |
13: 41,259,154 (GRCm39) |
I105T |
probably damaging |
Het |
| Gm7145 |
C |
T |
1: 117,913,525 (GRCm39) |
P136S |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,947,086 (GRCm39) |
R76S |
probably damaging |
Het |
| Hipk4 |
T |
C |
7: 27,227,812 (GRCm39) |
I186T |
probably damaging |
Het |
| Krt26 |
T |
A |
11: 99,225,628 (GRCm39) |
Q284H |
probably damaging |
Het |
| Lama4 |
T |
C |
10: 38,893,361 (GRCm39) |
I156T |
probably benign |
Het |
| Mical2 |
T |
A |
7: 111,910,652 (GRCm39) |
F274Y |
probably damaging |
Het |
| Mug1 |
A |
T |
6: 121,864,411 (GRCm39) |
Q1436L |
probably benign |
Het |
| Nin |
A |
G |
12: 70,107,968 (GRCm39) |
V208A |
probably damaging |
Het |
| Or4p20 |
T |
C |
2: 88,253,488 (GRCm39) |
S294G |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,074,374 (GRCm39) |
N309K |
possibly damaging |
Het |
| Pdcd11 |
T |
C |
19: 47,099,520 (GRCm39) |
V873A |
probably benign |
Het |
| Phf14 |
G |
A |
6: 11,991,996 (GRCm39) |
C724Y |
probably damaging |
Het |
| Pik3r2 |
T |
G |
8: 71,225,283 (GRCm39) |
I127L |
probably benign |
Het |
| Polr1a |
T |
A |
6: 71,953,025 (GRCm39) |
M1531K |
possibly damaging |
Het |
| Pwwp2b |
T |
C |
7: 138,836,028 (GRCm39) |
C490R |
probably damaging |
Het |
| Rax |
T |
C |
18: 66,071,738 (GRCm39) |
T50A |
probably benign |
Het |
| Rbm28 |
A |
T |
6: 29,137,639 (GRCm39) |
I438N |
probably damaging |
Het |
| Sema4c |
C |
T |
1: 36,589,834 (GRCm39) |
V507I |
probably benign |
Het |
| Skint8 |
C |
T |
4: 111,794,159 (GRCm39) |
T183I |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,721,697 (GRCm39) |
Q73* |
probably null |
Het |
| Sync |
T |
C |
4: 129,188,060 (GRCm39) |
L364P |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,355,454 (GRCm39) |
K376* |
probably null |
Het |
| Tanc1 |
C |
T |
2: 59,626,298 (GRCm39) |
R552C |
probably damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,939,852 (GRCm39) |
I399V |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,446,247 (GRCm39) |
C455R |
probably damaging |
Het |
|
| Other mutations in Igdcc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00430:Igdcc3
|
APN |
9 |
65,089,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01310:Igdcc3
|
APN |
9 |
65,085,724 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01545:Igdcc3
|
APN |
9 |
65,087,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01576:Igdcc3
|
APN |
9 |
65,085,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01909:Igdcc3
|
APN |
9 |
65,051,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02039:Igdcc3
|
APN |
9 |
65,091,162 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02055:Igdcc3
|
APN |
9 |
65,088,562 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02565:Igdcc3
|
APN |
9 |
65,087,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1776:Igdcc3
|
UTSW |
9 |
65,090,034 (GRCm39) |
nonsense |
probably null |
|
|
R4731:Igdcc3
|
UTSW |
9 |
65,089,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5413:Igdcc3
|
UTSW |
9 |
65,084,797 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5487:Igdcc3
|
UTSW |
9 |
65,088,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5744:Igdcc3
|
UTSW |
9 |
65,048,770 (GRCm39) |
small deletion |
probably benign |
|
|
R6867:Igdcc3
|
UTSW |
9 |
65,090,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6992:Igdcc3
|
UTSW |
9 |
65,088,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8880:Igdcc3
|
UTSW |
9 |
65,088,550 (GRCm39) |
missense |
probably benign |
0.20 |
|
R9619:Igdcc3
|
UTSW |
9 |
65,092,552 (GRCm39) |
missense |
probably benign |
0.40 |
|
R9682:Igdcc3
|
UTSW |
9 |
65,091,332 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9718:Igdcc3
|
UTSW |
9 |
65,090,280 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGTGACCCTCAGAAGAGCTC -3'
(R):5'- GCCTGAGCGTCTATAATTTTGTATC -3'
Sequencing Primer
(F):5'- GAAGAGCTCTGTCATCCACTC -3'
(R):5'- GGACTGAATCTCTGAACCTGTAAGC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation