Incidental Mutation 'R1640:Igdcc4'
| ID |
173477 |
| 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 |
039676-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.294)
|
| Stock # |
R1640 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
65008768-65045222 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 65030077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 328
(L328H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150272
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035499]
[ENSMUST00000077696]
[ENSMUST00000166273]
[ENSMUST00000213533]
|
| AlphaFold |
Q9EQS9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035499
AA Change: L328H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: L328H
| 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 |
probably benign
Transcript: ENSMUST00000077696
AA Change: S376T
PolyPhen 2
Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: S376T
| 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 |
noncoding transcript
Transcript: ENSMUST00000213423
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000213533
AA Change: L328H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000214978
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000216542
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 92.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810004N23Rik |
C |
A |
8: 125,566,584 (GRCm39) |
V279L |
probably damaging |
Het |
| Acot6 |
A |
T |
12: 84,147,900 (GRCm39) |
Y52F |
probably damaging |
Het |
| Adam22 |
C |
T |
5: 8,195,689 (GRCm39) |
V284I |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,545,739 (GRCm39) |
H1352Q |
probably benign |
Het |
| Aldh18a1 |
G |
A |
19: 40,573,943 (GRCm39) |
P27S |
probably benign |
Het |
| C1ra |
A |
G |
6: 124,499,233 (GRCm39) |
N473S |
probably benign |
Het |
| C87436 |
T |
C |
6: 86,423,233 (GRCm39) |
L269P |
probably damaging |
Het |
| Calcrl |
A |
G |
2: 84,164,021 (GRCm39) |
V390A |
probably damaging |
Het |
| Ccp110 |
T |
G |
7: 118,314,751 (GRCm39) |
|
probably null |
Het |
| Cerk |
A |
G |
15: 86,033,601 (GRCm39) |
V274A |
probably damaging |
Het |
| Chd1l |
A |
T |
3: 97,488,307 (GRCm39) |
S570T |
probably benign |
Het |
| Chst14 |
T |
A |
2: 118,757,379 (GRCm39) |
W83R |
probably damaging |
Het |
| Chsy1 |
A |
T |
7: 65,821,262 (GRCm39) |
D499V |
probably benign |
Het |
| Ckmt1 |
C |
A |
2: 121,190,198 (GRCm39) |
|
probably null |
Het |
| Cnot1 |
A |
T |
8: 96,496,460 (GRCm39) |
V282D |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,218,974 (GRCm39) |
S549T |
possibly damaging |
Het |
| Cntnap5c |
A |
T |
17: 58,702,289 (GRCm39) |
D1203V |
probably benign |
Het |
| Col4a4 |
A |
G |
1: 82,513,491 (GRCm39) |
Y169H |
unknown |
Het |
| Cwc22 |
A |
G |
2: 77,745,874 (GRCm39) |
F454S |
possibly damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dhrs7 |
A |
T |
12: 72,699,089 (GRCm39) |
W298R |
possibly damaging |
Het |
| Dock7 |
G |
T |
4: 98,833,483 (GRCm39) |
T1906N |
probably damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,449,203 (GRCm39) |
T67A |
probably benign |
Het |
| Drc1 |
A |
G |
5: 30,521,301 (GRCm39) |
D654G |
possibly damaging |
Het |
| Ech1 |
A |
T |
7: 28,531,264 (GRCm39) |
H284L |
probably damaging |
Het |
| Epc1 |
G |
A |
18: 6,441,175 (GRCm39) |
Q8* |
probably null |
Het |
| Etv5 |
A |
T |
16: 22,254,664 (GRCm39) |
D65E |
probably damaging |
Het |
| F2rl3 |
A |
G |
8: 73,489,534 (GRCm39) |
R254G |
probably benign |
Het |
| Fabp5 |
T |
G |
3: 10,080,170 (GRCm39) |
F73L |
probably benign |
Het |
| Fbrs |
T |
C |
7: 127,086,483 (GRCm39) |
I611T |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,433,806 (GRCm39) |
S117P |
possibly damaging |
Het |
| Frmd4b |
A |
C |
6: 97,285,634 (GRCm39) |
S291A |
possibly damaging |
Het |
| Galnt13 |
A |
G |
2: 54,950,558 (GRCm39) |
Y413C |
probably damaging |
Het |
| Gfer |
A |
G |
17: 24,914,337 (GRCm39) |
Y109H |
possibly damaging |
Het |
| Gli2 |
T |
C |
1: 118,764,254 (GRCm39) |
H1299R |
possibly damaging |
Het |
| Gm10110 |
T |
C |
14: 90,135,679 (GRCm39) |
|
noncoding transcript |
Het |
| Gprc5a |
T |
G |
6: 135,055,652 (GRCm39) |
L33W |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,844,721 (GRCm39) |
T121A |
probably benign |
Het |
| Grk3 |
A |
G |
5: 113,163,248 (GRCm39) |
V33A |
probably benign |
Het |
| Hc |
A |
T |
2: 34,947,336 (GRCm39) |
Y59* |
probably null |
Het |
| Hrnr |
A |
G |
3: 93,239,823 (GRCm39) |
I3354V |
unknown |
Het |
| Hyou1 |
C |
G |
9: 44,300,703 (GRCm39) |
T924S |
probably benign |
Het |
| Ifi209 |
T |
G |
1: 173,464,931 (GRCm39) |
H20Q |
probably damaging |
Het |
| Ifi44 |
A |
G |
3: 151,438,171 (GRCm39) |
V372A |
probably benign |
Het |
| Jkampl |
A |
G |
6: 73,445,869 (GRCm39) |
Y227H |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,120,161 (GRCm39) |
T155A |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,742,938 (GRCm39) |
|
probably benign |
Het |
| Kri1 |
T |
C |
9: 21,191,753 (GRCm39) |
D281G |
possibly damaging |
Het |
| Larp1b |
T |
A |
3: 40,988,507 (GRCm39) |
M1K |
probably null |
Het |
| Loxhd1 |
A |
G |
18: 77,490,259 (GRCm39) |
D1225G |
probably damaging |
Het |
| Mzf1 |
A |
G |
7: 12,777,197 (GRCm39) |
*736Q |
probably null |
Het |
| Naip2 |
C |
T |
13: 100,298,489 (GRCm39) |
A516T |
possibly damaging |
Het |
| Ncf2 |
T |
A |
1: 152,683,784 (GRCm39) |
M1K |
probably null |
Het |
| Or5t15 |
T |
A |
2: 86,681,571 (GRCm39) |
H157L |
probably benign |
Het |
| Or8h10 |
A |
C |
2: 86,808,963 (GRCm39) |
M59R |
probably damaging |
Het |
| Parp12 |
T |
C |
6: 39,073,574 (GRCm39) |
D417G |
probably benign |
Het |
| Parp12 |
T |
C |
6: 39,088,612 (GRCm39) |
H208R |
probably damaging |
Het |
| Pcif1 |
T |
C |
2: 164,727,603 (GRCm39) |
I132T |
probably benign |
Het |
| Pck2 |
A |
G |
14: 55,786,041 (GRCm39) |
D610G |
possibly damaging |
Het |
| Plbd1 |
T |
C |
6: 136,617,123 (GRCm39) |
K185E |
probably benign |
Het |
| Ppp2r5a |
T |
C |
1: 191,086,126 (GRCm39) |
M425V |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,548,231 (GRCm39) |
V805D |
probably damaging |
Het |
| Rprd2 |
C |
T |
3: 95,671,059 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
A |
G |
2: 112,731,178 (GRCm39) |
S711P |
probably damaging |
Het |
| Slc17a3 |
T |
A |
13: 24,036,340 (GRCm39) |
L212* |
probably null |
Het |
| Slc4a8 |
A |
G |
15: 100,681,668 (GRCm39) |
D41G |
probably benign |
Het |
| Slc9a3 |
T |
A |
13: 74,306,937 (GRCm39) |
V354E |
probably damaging |
Het |
| Spen |
A |
G |
4: 141,196,254 (GRCm39) |
I3632T |
probably damaging |
Het |
| Tesc |
A |
G |
5: 118,192,914 (GRCm39) |
S77G |
probably benign |
Het |
| Tet3 |
A |
T |
6: 83,346,297 (GRCm39) |
V1245D |
probably benign |
Het |
| Tox4 |
T |
A |
14: 52,530,000 (GRCm39) |
D553E |
possibly damaging |
Het |
| Tpmt |
A |
T |
13: 47,180,759 (GRCm39) |
Y193* |
probably null |
Het |
| Trio |
T |
C |
15: 27,833,130 (GRCm39) |
Y1169C |
probably damaging |
Het |
| Urb1 |
G |
A |
16: 90,569,514 (GRCm39) |
T1404I |
probably benign |
Het |
| Usp47 |
T |
C |
7: 111,682,334 (GRCm39) |
S540P |
probably damaging |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,548 (GRCm39) |
M126L |
possibly damaging |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,348 (GRCm39) |
F314S |
probably damaging |
Het |
| Vmn2r112 |
A |
T |
17: 22,824,097 (GRCm39) |
I451L |
probably benign |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,806 (GRCm39) |
|
probably null |
Het |
| Zfp503 |
A |
T |
14: 22,034,969 (GRCm39) |
L649Q |
probably damaging |
Het |
| Zfp977 |
A |
C |
7: 42,229,530 (GRCm39) |
C332G |
probably 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 |
|
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 |
|
R7607:Igdcc4
|
UTSW |
9 |
65,041,040 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
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'- AACCTCGTAGTTGGAGAGGGTGTAG -3'
(R):5'- CCACGTACAGATTCTGGGCTTCAC -3'
Sequencing Primer
(F):5'- TGTAGAGGGACAGTTCCAGC -3'
(R):5'- ATGTGGTCCCCCTCACATTT -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation