Mutagenetix > Incidental Mutation

Incidental Mutation 'R1318:Igdcc4'

157607

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

039384-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.294) question?

Stock #

R1318 (G1)

Quality Score

160

Status

Not validated

Chromosome

Chromosomal Location

65008768-65045222 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65040972 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1001 (L1001P)

Ref Sequence

ENSEMBL: ENSMUSP00000045387 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035499] [ENSMUST00000077696] [ENSMUST00000166273] [ENSMUST00000213533]

AlphaFold

Q9EQS9

Predicted Effect

probably damaging
Transcript: ENSMUST00000035499
AA Change: L1001P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: L1001P

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 damaging
Transcript: ENSMUST00000077696
AA Change: L1047P

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: L1047P

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

probably damaging
Transcript: ENSMUST00000213533
AA Change: L1000P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214978

Coding Region Coverage

1x: 98.6%
3x: 97.3%
10x: 92.9%
20x: 82.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	T	5: 8,751,621 (GRCm39)	V334L	probably benign	Het
Alms1	T	G	6: 85,605,531 (GRCm39)	S1925A	possibly damaging	Het
Cdh15	G	C	8: 123,584,234 (GRCm39)	E112Q	probably damaging	Het
Comt	G	T	16: 18,226,641 (GRCm39)	D248E	probably damaging	Het
Ctnna2	A	C	6: 76,859,773 (GRCm39)	N874K	probably damaging	Het
Dnah7b	C	T	1: 46,138,669 (GRCm39)	P237L	possibly damaging	Het
Galnt4	T	G	10: 98,945,772 (GRCm39)	V499G	probably damaging	Het
Gh	T	C	11: 106,191,923 (GRCm39)	T96A	probably benign	Het
Gng8	T	C	7: 16,629,161 (GRCm39)	V29A	probably damaging	Het
Hnrnpu	G	A	1: 178,157,822 (GRCm39)		probably benign	Het
Jph1	A	C	1: 17,067,714 (GRCm39)	F658V	probably damaging	Het
Kcnj3	A	T	2: 55,327,750 (GRCm39)	M180L	possibly damaging	Het
Ldb2	C	T	5: 44,692,379 (GRCm39)		probably null	Het
Mettl2	C	A	11: 105,028,597 (GRCm39)	Y316*	probably null	Het
Mug2	G	A	6: 122,054,361 (GRCm39)	V1047M	probably damaging	Het
Mxra8	G	T	4: 155,925,956 (GRCm39)	C140F	probably damaging	Het
Mylip	T	C	13: 45,559,401 (GRCm39)	I101T	probably benign	Het
Oasl2	A	G	5: 115,039,442 (GRCm39)	N210S	probably benign	Het
Pclo	A	G	5: 14,729,328 (GRCm39)		probably benign	Het
Plaat3	T	A	19: 7,556,591 (GRCm39)		probably null	Het
Rims2	G	A	15: 39,381,222 (GRCm39)	R1051H	probably damaging	Het
Rnf4	C	A	5: 34,508,590 (GRCm39)	R151S	probably damaging	Het
Serpina11	A	T	12: 103,952,777 (GRCm39)		probably benign	Het
Trim30b	T	A	7: 104,006,542 (GRCm39)	T105S	possibly damaging	Het
Ttn	T	C	2: 76,706,164 (GRCm39)		probably benign	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,578,962 (GRCm39)		probably benign	Het
Zranb1	C	A	7: 132,568,281 (GRCm39)	S313*	probably null	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
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
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'- TGGAAATGGCCCATCTCGCCATAC -3'
(R):5'- TGTGAGTCCCTGACCTGAAGAGAC -3'

Sequencing Primer
(F):5'- TACAAGGAAGCGTGCCATCTG -3'
(R):5'- CCTGACCTGAAGAGACTCCAG -3'

Posted On

2014-02-18