Mutagenetix > Incidental Mutation

Incidental Mutation 'R7807:Igdcc4'

600873

Institutional Source

Beutler Lab

Gene Symbol

Igdcc4

Ensembl Gene

ENSMUSG00000032816

Gene Name

immunoglobulin superfamily, DCC subclass, member 4

Synonyms

WI-18508, WI-16786, Nope, 9330155G14Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R7807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65101486-65137940 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65133795 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1036 (V1036A)

Ref Sequence

ENSEMBL: ENSMUSP00000045387 (fasta)

Gene Model

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

AlphaFold

Q9EQS9

Predicted Effect

probably benign
Transcript: ENSMUST00000035499
AA Change: V1036A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000045387
Gene: ENSMUSG00000032816
AA Change: V1036A

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: V1082A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000076878
Gene: ENSMUSG00000032816
AA Change: V1082A

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 benign
Transcript: ENSMUST00000213533
AA Change: V1035A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (68/68)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	T	C	2: 130,710,865	K1092E	probably damaging	Het
AB124611	C	A	9: 21,535,980	T146K	probably benign	Het
Alms1	T	A	6: 85,622,976	S1595T	possibly damaging	Het
Ankrd44	A	T	1: 54,792,476	I56N	probably damaging	Het
Anln	C	A	9: 22,360,880	V648F	probably damaging	Het
Arhgap29	A	G	3: 122,014,332	D1053G	probably benign	Het
Baalc	T	C	15: 38,934,017	S68P	probably benign	Het
Begain	T	C	12: 109,038,930	D52G	probably damaging	Het
Blmh	A	G	11: 76,946,214	I41V	probably benign	Het
Bpifc	T	A	10: 85,976,250	I365F	possibly damaging	Het
C2	G	T	17: 34,876,371	S199R	possibly damaging	Het
Ccbe1	T	A	18: 66,066,757	H298L	probably damaging	Het
Ccdc112	T	A	18: 46,290,759	K304I	probably damaging	Het
Ccdc15	T	C	9: 37,315,382	E432G	probably benign	Het
Cdh13	T	A	8: 118,283,855	M1K	probably null	Het
Cipc	T	C	12: 86,962,125	S253P	possibly damaging	Het
Clcn1	A	G	6: 42,310,348		probably null	Het
Clock	A	T	5: 76,243,135	N273K	probably benign	Het
Cyp19a1	T	C	9: 54,166,842	D476G	probably benign	Het
Dnah7b	A	G	1: 46,214,367	I1811V	probably benign	Het
Fat1	C	A	8: 45,041,973	T4091K	probably damaging	Het
Gm10340	T	A	14: 3,134,925	N64K	probably damaging	Het
Gm12394	A	C	4: 42,793,885	H82Q	probably benign	Het
Hectd1	G	A	12: 51,745,388	R2523C	probably damaging	Het
Hgf	A	G	5: 16,577,011	H244R	probably damaging	Het
Hgs	G	T	11: 120,479,934	A567S	probably damaging	Het
Keg1	G	A	19: 12,714,634		probably null	Het
Klhl8	A	T	5: 103,876,066	L156Q	probably damaging	Het
Lmln	T	C	16: 33,107,131	Y521H	probably benign	Het
Lrrc7	A	G	3: 158,160,487	S1206P	probably damaging	Het
Mad1l1	T	A	5: 140,088,786	I550F	probably benign	Het
Marf1	C	T	16: 14,153,889	W28*	probably null	Het
Mfsd11	T	G	11: 116,863,907	S215A	probably benign	Het
Mpped2	C	A	2: 106,744,740	H57N	possibly damaging	Het
Mslnl	A	G	17: 25,746,777	M542V	probably benign	Het
Myh6	G	T	14: 54,942,440	H1903Q	probably damaging	Het
Neo1	T	C	9: 58,990,494	T60A	probably benign	Het
Npm2	T	A	14: 70,652,507		probably null	Het
Olfr1165-ps	T	C	2: 88,101,565	S141G	probably benign	Het
Olfr1355	T	A	10: 78,879,209	S12R	probably benign	Het
Olfr1487	C	A	19: 13,619,921	T210K	probably damaging	Het
Pax9	A	T	12: 56,697,065	I166F	possibly damaging	Het
Pcsk9	A	G	4: 106,463,895	S6P	possibly damaging	Het
Pikfyve	A	G	1: 65,269,942	Y1893C	probably damaging	Het
Pirb	T	C	7: 3,719,865	T43A	possibly damaging	Het
Pou3f1	A	G	4: 124,658,281	D192G	possibly damaging	Het
Pus3	C	G	9: 35,566,725	R418G	probably damaging	Het
Rexo1	C	T	10: 80,550,136	V363I	probably benign	Het
Sdcbp	A	G	4: 6,393,688	T269A	probably damaging	Het
Sele	T	C	1: 164,053,893	V523A	probably benign	Het
Serpinb8	T	A	1: 107,604,727	M183K	probably damaging	Het
Sh2d4a	T	G	8: 68,282,381	S51A	probably benign	Het
Siglec15	A	G	18: 78,047,481	S201P	probably damaging	Het
Slc10a5	C	T	3: 10,335,469	V44I	probably benign	Het
Slc16a13	A	G	11: 70,220,562	V39A	probably damaging	Het
Slc25a13	G	A	6: 6,117,164	R184W	probably damaging	Het
Slc35f5	T	A	1: 125,584,541	D359E	probably damaging	Het
Slc3a1	A	G	17: 85,063,943	E641G	probably benign	Het
Slf1	T	C	13: 77,046,704	D834G	probably damaging	Het
Stim1	T	C	7: 102,427,141	I433T	probably damaging	Het
Stra6	T	A	9: 58,150,161	I418K	probably damaging	Het
Tanc2	A	G	11: 105,867,654	N747S	probably benign	Het
Tet2	T	C	3: 133,486,541	T711A	possibly damaging	Het
Trpm6	T	C	19: 18,829,856	I988T	probably benign	Het
Ttc41	T	A	10: 86,776,631	I1256N	probably benign	Het
Uba2	T	C	7: 34,163,213	D100G	possibly damaging	Het
Vmn1r43	A	G	6: 89,870,237	I89T	probably benign	Het
Vmn2r58	T	A	7: 41,872,486	Y62F	probably benign	Het
Ylpm1	C	T	12: 85,014,081	Q428*	probably null	Het
Zcrb1	T	C	15: 93,391,121	D88G	probably damaging	Het
Zmym1	A	C	4: 127,047,874	I907S	probably damaging	Het

Other mutations in Igdcc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Igdcc4	APN	9	65135164	missense	probably damaging	1.00
IGL01285:Igdcc4	APN	9	65123991	missense	probably damaging	1.00
IGL01412:Igdcc4	APN	9	65114449	splice site	probably benign
IGL01485:Igdcc4	APN	9	65122607	missense	probably benign	0.02
IGL01552:Igdcc4	APN	9	65122502	intron	probably benign
IGL01651:Igdcc4	APN	9	65124112	missense	possibly damaging	0.63
IGL01751:Igdcc4	APN	9	65131732	missense	probably damaging	1.00
IGL02164:Igdcc4	APN	9	65124782	splice site	probably benign
IGL02468:Igdcc4	APN	9	65126832	missense	probably damaging	1.00
IGL02616:Igdcc4	APN	9	65133078	missense	probably damaging	1.00
IGL02685:Igdcc4	APN	9	65133825	missense	possibly damaging	0.81
IGL02734:Igdcc4	APN	9	65131456	missense	possibly damaging	0.47
IGL02893:Igdcc4	APN	9	65133071	missense	probably damaging	1.00
R0006:Igdcc4	UTSW	9	65135100	splice site	probably benign
R0583:Igdcc4	UTSW	9	65121813	missense	possibly damaging	0.85
R0939:Igdcc4	UTSW	9	65131473	critical splice donor site	probably null
R1075:Igdcc4	UTSW	9	65131650	missense	possibly damaging	0.90
R1110:Igdcc4	UTSW	9	65126926	missense	possibly damaging	0.91
R1183:Igdcc4	UTSW	9	65121900	missense	possibly damaging	0.91
R1318:Igdcc4	UTSW	9	65133690	missense	probably damaging	1.00
R1507:Igdcc4	UTSW	9	65133744	missense	probably damaging	1.00
R1548:Igdcc4	UTSW	9	65135227	missense	probably benign	0.08
R1640:Igdcc4	UTSW	9	65122795	missense	probably damaging	1.00
R1681:Igdcc4	UTSW	9	65128795	missense	probably damaging	1.00
R1687:Igdcc4	UTSW	9	65131663	missense	probably damaging	1.00
R1716:Igdcc4	UTSW	9	65126897	missense	probably damaging	1.00
R1964:Igdcc4	UTSW	9	65122769	missense	probably benign
R1996:Igdcc4	UTSW	9	65121819	missense	probably damaging	1.00
R2150:Igdcc4	UTSW	9	65125335	missense	possibly damaging	0.92
R2278:Igdcc4	UTSW	9	65130743	missense	probably damaging	1.00
R3085:Igdcc4	UTSW	9	65132058	missense	probably damaging	1.00
R4011:Igdcc4	UTSW	9	65135479	missense	probably benign
R4077:Igdcc4	UTSW	9	65131765	missense	probably damaging	1.00
R4191:Igdcc4	UTSW	9	65124151	missense	probably benign	0.13
R4293:Igdcc4	UTSW	9	65124610	critical splice acceptor site	probably null
R4589:Igdcc4	UTSW	9	65130628	missense	probably damaging	1.00
R4931:Igdcc4	UTSW	9	65124015	missense	possibly damaging	0.66
R5093:Igdcc4	UTSW	9	65122757	missense	possibly damaging	0.51
R5106:Igdcc4	UTSW	9	65124701	missense	probably damaging	1.00
R5546:Igdcc4	UTSW	9	65128795	missense	probably damaging	1.00
R5634:Igdcc4	UTSW	9	65134546	missense	probably benign	0.18
R5810:Igdcc4	UTSW	9	65128695	missense	probably damaging	1.00
R6395:Igdcc4	UTSW	9	65135118	missense	probably damaging	1.00
R6475:Igdcc4	UTSW	9	65120321	missense	probably damaging	1.00
R6776:Igdcc4	UTSW	9	65135418	missense	probably benign	0.02
R6828:Igdcc4	UTSW	9	65122697	missense	probably benign
R6914:Igdcc4	UTSW	9	65120268	missense	probably benign	0.00
R6942:Igdcc4	UTSW	9	65120268	missense	probably benign	0.00
R7072:Igdcc4	UTSW	9	65130731	missense	probably damaging	1.00
R7234:Igdcc4	UTSW	9	65135468	nonsense	probably null
R7448:Igdcc4	UTSW	9	65123994	missense	possibly damaging	0.52
R7562:Igdcc4	UTSW	9	65124024	missense	probably damaging	1.00
R7607:Igdcc4	UTSW	9	65133758	missense	possibly damaging	0.85
R7734:Igdcc4	UTSW	9	65131753	missense	probably damaging	0.99
R7852:Igdcc4	UTSW	9	65120258	missense	probably benign	0.04
R7904:Igdcc4	UTSW	9	65134519	missense	probably benign	0.00
R8133:Igdcc4	UTSW	9	65131741	missense	possibly damaging	0.54
R8147:Igdcc4	UTSW	9	65123971	missense	probably benign	0.42
R8230:Igdcc4	UTSW	9	65122738	missense	probably damaging	1.00
R8822:Igdcc4	UTSW	9	65124016	missense	possibly damaging	0.50
R8846:Igdcc4	UTSW	9	65130616	missense	probably benign	0.12
R9250:Igdcc4	UTSW	9	65131650	missense	possibly damaging	0.90
R9613:Igdcc4	UTSW	9	65120240	missense	possibly damaging	0.87
R9681:Igdcc4	UTSW	9	65134576	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CGAGTGGACTTGTATTCCTTCC -3'
(R):5'- CTCACCGTCAGAAGTTGTGC -3'

Sequencing Primer
(F):5'- GTTTGATTGCACCACACCAGG -3'
(R):5'- ACCGTCAGAAGTTGTGCTCTGG -3'

Posted On

2019-11-26