Incidental Mutation 'R7607:Igdcc4'
ID |
588381 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Igdcc4
|
Ensembl Gene |
ENSMUSG00000032816 |
Gene Name |
immunoglobulin superfamily, DCC subclass, member 4 |
Synonyms |
WI-18508, Nope, 9330155G14Rik, WI-16786 |
MMRRC Submission |
045677-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.246)
|
Stock # |
R7607 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 65041040 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Serine
at position 1024
(P1024S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045387
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
AlphaFold |
Q9EQS9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035499
AA Change: P1024S
PolyPhen 2
Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000045387 Gene: ENSMUSG00000032816 AA Change: P1024S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
IG
|
40 |
139 |
5e0 |
SMART |
IGc2
|
154 |
218 |
1.3e-11 |
SMART |
IGc2
|
255 |
318 |
1.13e-11 |
SMART |
low complexity region
|
322 |
335 |
N/A |
INTRINSIC |
IGc2
|
346 |
411 |
1.34e-13 |
SMART |
FN3
|
428 |
511 |
3.58e-12 |
SMART |
FN3
|
526 |
610 |
9.54e-8 |
SMART |
FN3
|
630 |
726 |
7.34e-9 |
SMART |
FN3
|
750 |
832 |
1.05e-9 |
SMART |
FN3
|
848 |
932 |
2.14e-10 |
SMART |
low complexity region
|
958 |
978 |
N/A |
INTRINSIC |
low complexity region
|
1085 |
1100 |
N/A |
INTRINSIC |
low complexity region
|
1154 |
1168 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000077696
AA Change: P1070S
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000076878 Gene: ENSMUSG00000032816 AA Change: P1070S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
IG
|
40 |
139 |
5e0 |
SMART |
IGc2
|
154 |
218 |
1.3e-11 |
SMART |
IGc2
|
255 |
458 |
7.02e-8 |
SMART |
FN3
|
475 |
558 |
3.58e-12 |
SMART |
FN3
|
573 |
656 |
1.1e-7 |
SMART |
FN3
|
676 |
772 |
7.34e-9 |
SMART |
FN3
|
796 |
878 |
1.05e-9 |
SMART |
FN3
|
894 |
978 |
2.14e-10 |
SMART |
low complexity region
|
1004 |
1024 |
N/A |
INTRINSIC |
low complexity region
|
1131 |
1146 |
N/A |
INTRINSIC |
low complexity region
|
1200 |
1214 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166273
|
SMART Domains |
Protein: ENSMUSP00000132576 Gene: ENSMUSG00000032816
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
22 |
N/A |
INTRINSIC |
Blast:IG
|
40 |
83 |
3e-22 |
BLAST |
low complexity region
|
142 |
156 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000213533
AA Change: P1023S
PolyPhen 2
Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)
|
Meta Mutation Damage Score |
0.0766 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
99% (69/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610010K14Rik |
A |
T |
11: 70,128,383 (GRCm39) |
H30Q |
probably damaging |
Het |
A930009A15Rik |
G |
A |
10: 115,417,894 (GRCm39) |
|
probably null |
Het |
Abca7 |
T |
C |
10: 79,847,667 (GRCm39) |
L1779P |
probably damaging |
Het |
Aff1 |
G |
A |
5: 103,997,325 (GRCm39) |
V1140I |
possibly damaging |
Het |
Ano2 |
C |
T |
6: 125,689,382 (GRCm39) |
A169V |
probably damaging |
Het |
Atat1 |
T |
C |
17: 36,219,999 (GRCm39) |
Y101C |
possibly damaging |
Het |
Atp6v1c1 |
T |
C |
15: 38,683,255 (GRCm39) |
|
probably null |
Het |
Atp7b |
T |
G |
8: 22,501,522 (GRCm39) |
K912T |
probably damaging |
Het |
Ceacam14 |
T |
C |
7: 17,548,246 (GRCm39) |
V112A |
possibly damaging |
Het |
Cfap107 |
T |
A |
4: 144,146,332 (GRCm39) |
H107L |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,926,201 (GRCm39) |
N1119S |
probably benign |
Het |
Csmd1 |
G |
T |
8: 15,968,331 (GRCm39) |
Q3099K |
possibly damaging |
Het |
Cyp3a25 |
A |
G |
5: 145,921,791 (GRCm39) |
V381A |
possibly damaging |
Het |
Dctn1 |
C |
T |
6: 83,172,051 (GRCm39) |
R948* |
probably null |
Het |
Dhrs3 |
A |
G |
4: 144,650,510 (GRCm39) |
T219A |
probably benign |
Het |
Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
Esrp1 |
A |
G |
4: 11,384,449 (GRCm39) |
V78A |
probably damaging |
Het |
Evc2 |
A |
G |
5: 37,544,200 (GRCm39) |
T650A |
possibly damaging |
Het |
Exoc6b |
T |
A |
6: 84,966,391 (GRCm39) |
K194N |
possibly damaging |
Het |
Fer1l6 |
G |
A |
15: 58,534,581 (GRCm39) |
W1809* |
probably null |
Het |
Frmd4a |
T |
A |
2: 4,596,747 (GRCm39) |
L156* |
probably null |
Het |
Gk5 |
A |
T |
9: 96,035,263 (GRCm39) |
|
probably null |
Het |
Gm3573 |
A |
G |
14: 42,011,707 (GRCm39) |
F8L |
probably benign |
Het |
Gm9767 |
G |
A |
10: 25,954,838 (GRCm39) |
C130Y |
unknown |
Het |
Grip2 |
T |
C |
6: 91,765,393 (GRCm39) |
T30A |
probably benign |
Het |
Gskip |
C |
A |
12: 105,665,156 (GRCm39) |
A65E |
possibly damaging |
Het |
Gtf2e2 |
A |
G |
8: 34,266,493 (GRCm39) |
R259G |
probably benign |
Het |
Gucy1b2 |
T |
A |
14: 62,656,626 (GRCm39) |
I244F |
probably damaging |
Het |
Gxylt2 |
G |
T |
6: 100,775,151 (GRCm39) |
V357L |
possibly damaging |
Het |
Hivep3 |
CGG |
CG |
4: 119,955,108 (GRCm39) |
1141 |
probably null |
Het |
Ino80 |
A |
T |
2: 119,212,750 (GRCm39) |
|
probably null |
Het |
Knl1 |
T |
C |
2: 118,925,614 (GRCm39) |
F1881S |
possibly damaging |
Het |
Mbd6 |
T |
C |
10: 127,121,099 (GRCm39) |
E518G |
unknown |
Het |
Mlh1 |
A |
G |
9: 111,058,958 (GRCm39) |
S689P |
probably damaging |
Het |
Mmrn2 |
T |
C |
14: 34,120,897 (GRCm39) |
I589T |
possibly damaging |
Het |
Mtmr12 |
C |
T |
15: 12,257,794 (GRCm39) |
Q291* |
probably null |
Het |
Mup8 |
T |
A |
4: 60,222,035 (GRCm39) |
I33F |
probably benign |
Het |
Mylk |
C |
T |
16: 34,715,184 (GRCm39) |
P504L |
probably benign |
Het |
Ntrk3 |
C |
T |
7: 77,900,621 (GRCm39) |
A573T |
probably benign |
Het |
Obscn |
G |
T |
11: 58,889,091 (GRCm39) |
S7560R |
unknown |
Het |
Or1m1 |
A |
G |
9: 18,666,178 (GRCm39) |
F251S |
possibly damaging |
Het |
Or52z12 |
A |
C |
7: 103,234,137 (GRCm39) |
T303P |
probably damaging |
Het |
Pde1c |
T |
C |
6: 56,127,613 (GRCm39) |
T391A |
probably damaging |
Het |
Pla2g4d |
T |
A |
2: 120,119,457 (GRCm39) |
H19L |
probably benign |
Het |
Plce1 |
C |
A |
19: 38,513,196 (GRCm39) |
A165E |
probably benign |
Het |
Polr1a |
T |
C |
6: 71,890,005 (GRCm39) |
S75P |
probably benign |
Het |
Psg21 |
T |
C |
7: 18,388,708 (GRCm39) |
E128G |
probably benign |
Het |
Radil |
A |
G |
5: 142,492,368 (GRCm39) |
I420T |
probably damaging |
Het |
Radil |
A |
T |
5: 142,480,550 (GRCm39) |
M635K |
probably damaging |
Het |
Rnase11 |
G |
A |
14: 51,287,029 (GRCm39) |
T175I |
probably damaging |
Het |
Robo1 |
C |
T |
16: 72,360,626 (GRCm39) |
P13S |
|
Het |
Slc18a2 |
C |
A |
19: 59,272,790 (GRCm39) |
A364D |
probably benign |
Het |
Snph |
C |
T |
2: 151,436,506 (GRCm39) |
D141N |
probably damaging |
Het |
Snrnp70 |
T |
C |
7: 45,041,688 (GRCm39) |
K70R |
possibly damaging |
Het |
Snx33 |
T |
C |
9: 56,833,997 (GRCm39) |
D24G |
probably benign |
Het |
Spag6 |
T |
A |
2: 18,736,773 (GRCm39) |
D165E |
possibly damaging |
Het |
Spata31 |
T |
G |
13: 65,069,406 (GRCm39) |
L518R |
probably damaging |
Het |
Spata31e3 |
T |
C |
13: 50,404,296 (GRCm39) |
E2G |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,466,661 (GRCm39) |
V4059M |
probably damaging |
Het |
St6galnac2 |
T |
C |
11: 116,570,805 (GRCm39) |
Y261C |
probably damaging |
Het |
Stoml1 |
A |
G |
9: 58,163,941 (GRCm39) |
R87G |
probably damaging |
Het |
Suv39h2 |
T |
C |
2: 3,475,866 (GRCm39) |
T40A |
unknown |
Het |
Terb2 |
G |
T |
2: 122,016,956 (GRCm39) |
G26W |
probably damaging |
Het |
Tmem62 |
T |
C |
2: 120,826,921 (GRCm39) |
I406T |
probably benign |
Het |
Tnfrsf11a |
G |
A |
1: 105,772,458 (GRCm39) |
V582I |
probably benign |
Het |
Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,576,817 (GRCm39) |
D1480G |
probably damaging |
Het |
Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
Vmn1r48 |
C |
A |
6: 90,012,962 (GRCm39) |
V288L |
probably benign |
Het |
Vmn2r13 |
A |
G |
5: 109,321,506 (GRCm39) |
V397A |
probably damaging |
Het |
Vmn2r98 |
A |
G |
17: 19,287,570 (GRCm39) |
N468D |
possibly damaging |
Het |
Zfhx2 |
G |
T |
14: 55,303,688 (GRCm39) |
T1432K |
possibly damaging |
Het |
Zswim5 |
T |
A |
4: 116,843,939 (GRCm39) |
D992E |
possibly damaging |
Het |
|
Other mutations in Igdcc4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01152:Igdcc4
|
APN |
9 |
65,042,446 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01285:Igdcc4
|
APN |
9 |
65,031,273 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01412:Igdcc4
|
APN |
9 |
65,021,731 (GRCm39) |
splice site |
probably benign |
|
IGL01485:Igdcc4
|
APN |
9 |
65,029,889 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01552:Igdcc4
|
APN |
9 |
65,029,784 (GRCm39) |
intron |
probably benign |
|
IGL01651:Igdcc4
|
APN |
9 |
65,031,394 (GRCm39) |
missense |
possibly damaging |
0.63 |
IGL01751:Igdcc4
|
APN |
9 |
65,039,014 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02164:Igdcc4
|
APN |
9 |
65,032,064 (GRCm39) |
splice site |
probably benign |
|
IGL02468:Igdcc4
|
APN |
9 |
65,034,114 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02616:Igdcc4
|
APN |
9 |
65,040,360 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02685:Igdcc4
|
APN |
9 |
65,041,107 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL02734:Igdcc4
|
APN |
9 |
65,038,738 (GRCm39) |
missense |
possibly damaging |
0.47 |
IGL02893:Igdcc4
|
APN |
9 |
65,040,353 (GRCm39) |
missense |
probably damaging |
1.00 |
R0006:Igdcc4
|
UTSW |
9 |
65,042,382 (GRCm39) |
splice site |
probably benign |
|
R0583:Igdcc4
|
UTSW |
9 |
65,029,095 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0939:Igdcc4
|
UTSW |
9 |
65,038,755 (GRCm39) |
critical splice donor site |
probably null |
|
R1075:Igdcc4
|
UTSW |
9 |
65,038,932 (GRCm39) |
missense |
possibly damaging |
0.90 |
R1110:Igdcc4
|
UTSW |
9 |
65,034,208 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1183:Igdcc4
|
UTSW |
9 |
65,029,182 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1318:Igdcc4
|
UTSW |
9 |
65,040,972 (GRCm39) |
missense |
probably damaging |
1.00 |
R1507:Igdcc4
|
UTSW |
9 |
65,041,026 (GRCm39) |
missense |
probably damaging |
1.00 |
R1548:Igdcc4
|
UTSW |
9 |
65,042,509 (GRCm39) |
missense |
probably benign |
0.08 |
R1640:Igdcc4
|
UTSW |
9 |
65,030,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R1681:Igdcc4
|
UTSW |
9 |
65,036,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R1687:Igdcc4
|
UTSW |
9 |
65,038,945 (GRCm39) |
missense |
probably damaging |
1.00 |
R1716:Igdcc4
|
UTSW |
9 |
65,034,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R1964:Igdcc4
|
UTSW |
9 |
65,030,051 (GRCm39) |
missense |
probably benign |
|
R1996:Igdcc4
|
UTSW |
9 |
65,029,101 (GRCm39) |
missense |
probably damaging |
1.00 |
R2150:Igdcc4
|
UTSW |
9 |
65,032,617 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2278:Igdcc4
|
UTSW |
9 |
65,038,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R3085:Igdcc4
|
UTSW |
9 |
65,039,340 (GRCm39) |
missense |
probably damaging |
1.00 |
R4011:Igdcc4
|
UTSW |
9 |
65,042,761 (GRCm39) |
missense |
probably benign |
|
R4077:Igdcc4
|
UTSW |
9 |
65,039,047 (GRCm39) |
missense |
probably damaging |
1.00 |
R4191:Igdcc4
|
UTSW |
9 |
65,031,433 (GRCm39) |
missense |
probably benign |
0.13 |
R4293:Igdcc4
|
UTSW |
9 |
65,031,892 (GRCm39) |
critical splice acceptor site |
probably null |
|
R4589:Igdcc4
|
UTSW |
9 |
65,037,910 (GRCm39) |
missense |
probably damaging |
1.00 |
R4931:Igdcc4
|
UTSW |
9 |
65,031,297 (GRCm39) |
missense |
possibly damaging |
0.66 |
R5093:Igdcc4
|
UTSW |
9 |
65,030,039 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5106:Igdcc4
|
UTSW |
9 |
65,031,983 (GRCm39) |
missense |
probably damaging |
1.00 |
R5546:Igdcc4
|
UTSW |
9 |
65,036,077 (GRCm39) |
missense |
probably damaging |
1.00 |
R5634:Igdcc4
|
UTSW |
9 |
65,041,828 (GRCm39) |
missense |
probably benign |
0.18 |
R5810:Igdcc4
|
UTSW |
9 |
65,035,977 (GRCm39) |
missense |
probably damaging |
1.00 |
R6395:Igdcc4
|
UTSW |
9 |
65,042,400 (GRCm39) |
missense |
probably damaging |
1.00 |
R6475:Igdcc4
|
UTSW |
9 |
65,027,603 (GRCm39) |
missense |
probably damaging |
1.00 |
R6776:Igdcc4
|
UTSW |
9 |
65,042,700 (GRCm39) |
missense |
probably benign |
0.02 |
R6828:Igdcc4
|
UTSW |
9 |
65,029,979 (GRCm39) |
missense |
probably benign |
|
R6914:Igdcc4
|
UTSW |
9 |
65,027,550 (GRCm39) |
missense |
probably benign |
0.00 |
R6942:Igdcc4
|
UTSW |
9 |
65,027,550 (GRCm39) |
missense |
probably benign |
0.00 |
R7072:Igdcc4
|
UTSW |
9 |
65,038,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R7234:Igdcc4
|
UTSW |
9 |
65,042,750 (GRCm39) |
nonsense |
probably null |
|
R7448:Igdcc4
|
UTSW |
9 |
65,031,276 (GRCm39) |
missense |
possibly damaging |
0.52 |
R7562:Igdcc4
|
UTSW |
9 |
65,031,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R7734:Igdcc4
|
UTSW |
9 |
65,039,035 (GRCm39) |
missense |
probably damaging |
0.99 |
R7807:Igdcc4
|
UTSW |
9 |
65,041,077 (GRCm39) |
missense |
probably benign |
0.00 |
R7852:Igdcc4
|
UTSW |
9 |
65,027,540 (GRCm39) |
missense |
probably benign |
0.04 |
R7904:Igdcc4
|
UTSW |
9 |
65,041,801 (GRCm39) |
missense |
probably benign |
0.00 |
R8133:Igdcc4
|
UTSW |
9 |
65,039,023 (GRCm39) |
missense |
possibly damaging |
0.54 |
R8147:Igdcc4
|
UTSW |
9 |
65,031,253 (GRCm39) |
missense |
probably benign |
0.42 |
R8230:Igdcc4
|
UTSW |
9 |
65,030,020 (GRCm39) |
missense |
probably damaging |
1.00 |
R8822:Igdcc4
|
UTSW |
9 |
65,031,298 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8846:Igdcc4
|
UTSW |
9 |
65,037,898 (GRCm39) |
missense |
probably benign |
0.12 |
R9250:Igdcc4
|
UTSW |
9 |
65,038,932 (GRCm39) |
missense |
possibly damaging |
0.90 |
R9613:Igdcc4
|
UTSW |
9 |
65,027,522 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9681:Igdcc4
|
UTSW |
9 |
65,041,858 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- CGAGTGGACTTGTATTCCTTCC -3'
(R):5'- CAGAAGTTGTGCTCTGGTGC -3'
Sequencing Primer
(F):5'- GTTTGATTGCACCACACCAGG -3'
(R):5'- GCCCCCTGGTGTTTGATTTG -3'
|
Posted On |
2019-10-24 |