Mutagenetix > Incidental Mutation

Incidental Mutation 'R0893:Ighg2c'

83613

Institutional Source

Beutler Lab

Gene Symbol

Ighg2c

Ensembl Gene

ENSMUSG00000076612

Gene Name

immunoglobulin heavy constant gamma 2C

Synonyms

MMRRC Submission

039056-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R0893 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

113287285-113288932 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113287433 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 321 (N321Y)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000103416
AA Change: N321Y

SMART Domains

Protein: ENSMUSP00000100212
Gene: ENSMUSG00000076612
AA Change: N321Y

Domain	Start	End	E-Value	Type
IGc1	21	91	2.4e-15	SMART
IG_like	143	218	1.64e-2	SMART
IGc1	249	322	1.97e-34	SMART
transmembrane domain	350	372	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000195192
AA Change: N321Y

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.4%
20x: 95.1%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,219,308		probably benign	Het
4921501E09Rik	T	C	17: 33,065,289	I846M	probably benign	Het
Adnp	A	T	2: 168,183,727	F549L	possibly damaging	Het
Agl	A	G	3: 116,753,286	I1305T	probably benign	Het
Aldh8a1	T	A	10: 21,391,694	M326K	probably benign	Het
Amdhd1	A	T	10: 93,527,651	M295K	probably damaging	Het
Arhgef4	T	A	1: 34,807,110	C324S	probably damaging	Het
Car8	A	T	4: 8,238,119		probably null	Het
Cc2d1a	T	C	8: 84,140,839		probably benign	Het
Cd81	G	A	7: 143,062,505	V27M	possibly damaging	Het
Ces1b	A	T	8: 93,079,428	S62T	probably benign	Het
Cfb	A	G	17: 34,858,055	S30P	probably damaging	Het
Cmtm3	A	G	8: 104,343,911	M101V	possibly damaging	Het
Cul7	T	A	17: 46,663,190	L1467H	probably damaging	Het
Ddb1	C	T	19: 10,612,916	S269L	probably benign	Het
Ddx25	G	A	9: 35,554,390	Q143*	probably null	Het
Dis3l2	T	A	1: 87,044,206		probably null	Het
Dlgap4	G	T	2: 156,745,978	E598*	probably null	Het
Dus1l	C	T	11: 120,789,436	G471D	possibly damaging	Het
Elp4	C	A	2: 105,896,945		probably benign	Het
Eya3	A	G	4: 132,689,786	N194S	probably benign	Het
Gm9992	A	G	17: 7,374,527	L174P	probably damaging	Het
Golgb1	G	T	16: 36,912,277	V629L	possibly damaging	Het
Hars2	G	A	18: 36,787,595	A164T	possibly damaging	Het
Hexb	T	A	13: 97,185,627	I217L	probably benign	Het
Hgh1	A	G	15: 76,369,648		probably null	Het
Hsd3b3	A	T	3: 98,742,441		probably null	Het
Il5	A	G	11: 53,720,936	T34A	probably benign	Het
Jph1	C	A	1: 17,004,283	E504*	probably null	Het
Kif2b	G	T	11: 91,575,594	T621K	probably benign	Het
Kmt2c	A	T	5: 25,351,270		probably benign	Het
Leprotl1	A	G	8: 34,138,852		probably null	Het
Lpar3	C	T	3: 146,240,593	R9C	possibly damaging	Het
Map1a	A	G	2: 121,300,533	E372G	probably damaging	Het
Map2	C	A	1: 66,380,768	T86K	probably damaging	Het
Map7	A	G	10: 20,273,883		probably null	Het
Mdn1	T	C	4: 32,701,713	V1482A	probably benign	Het
Mks1	G	A	11: 87,856,951		probably benign	Het
Morf4l1	T	G	9: 90,102,350	K102N	probably damaging	Het
Mroh1	T	A	15: 76,408,938	V304D	possibly damaging	Het
Mtg1	G	A	7: 140,149,752	V252M	probably damaging	Het
Myh13	A	T	11: 67,334,601	D264V	probably damaging	Het
Myh2	A	G	11: 67,186,508	Y823C	possibly damaging	Het
Myoz1	A	T	14: 20,651,184	S112R	probably benign	Het
Ncapd2	A	G	6: 125,173,482	V860A	probably benign	Het
Nfix	G	A	8: 84,726,526	R300C	probably damaging	Het
Npffr1	T	C	10: 61,614,231	F95L	possibly damaging	Het
Olfr585	G	T	7: 103,098,434	R231L	probably benign	Het
Olfr877	T	C	9: 37,855,196	I126T	probably damaging	Het
Orc4	A	C	2: 48,932,610		probably benign	Het
P3h3	A	C	6: 124,845,513	I565R	probably damaging	Het
Pak4	T	C	7: 28,559,777	D552G	probably benign	Het
Pcdhb4	G	T	18: 37,309,370		probably null	Het
Pdcd4	G	T	19: 53,929,094	R454L	probably damaging	Het
Pkd1l2	A	G	8: 117,044,492	I1116T	probably damaging	Het
Plcb2	A	G	2: 118,725,105		probably benign	Het
Pmpca	T	C	2: 26,393,218		probably benign	Het
Pnpla7	T	A	2: 24,997,240	I32N	probably damaging	Het
Prpf8	A	G	11: 75,493,949	K718E	probably damaging	Het
Racgap1	C	T	15: 99,626,530	A359T	probably benign	Het
Rgs3	G	A	4: 62,605,561		probably null	Het
Rhpn1	A	G	15: 75,711,654	E356G	probably damaging	Het
Rps6ka5	T	C	12: 100,574,438	H488R	possibly damaging	Het
Scn11a	A	G	9: 119,803,330		probably null	Het
Sema4f	A	T	6: 82,935,967		probably benign	Het
Serpina1f	A	G	12: 103,693,835	S63P	probably damaging	Het
Slc9a3	T	C	13: 74,159,246	W386R	probably damaging	Het
Slc9b1	A	C	3: 135,394,890	L465F	probably benign	Het
Smc5	A	G	19: 23,263,653	V165A	possibly damaging	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tinagl1	G	T	4: 130,174,023	D59E	probably damaging	Het
Tns3	A	G	11: 8,493,302	Y354H	probably damaging	Het
Trappc9	C	T	15: 72,590,107	G1103D	probably damaging	Het
Unc79	A	T	12: 102,991,428	D34V	probably damaging	Het
Unc80	T	C	1: 66,521,486	L791P	probably damaging	Het
Xpo7	G	T	14: 70,666,097		probably benign	Het
Zbtb1	T	A	12: 76,385,339	I33N	probably damaging	Het

Other mutations in Ighg2c

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02087:Ighg2c	APN	12	113285366	unclassified	probably benign
IGL02560:Ighg2c	APN	12	113287884	missense	unknown
IGL03339:Ighg2c	APN	12	113287994	missense	unknown
R0047:Ighg2c	UTSW	12	113288168	splice site	probably benign
R0047:Ighg2c	UTSW	12	113288168	splice site	probably benign
R0415:Ighg2c	UTSW	12	113287910	missense	unknown
R0571:Ighg2c	UTSW	12	113288762	nonsense	probably null
R0634:Ighg2c	UTSW	12	113287964	missense	unknown
R1169:Ighg2c	UTSW	12	113285952	unclassified	probably benign
R3895:Ighg2c	UTSW	12	113287658	missense	unknown
R5065:Ighg2c	UTSW	12	113288088	missense	unknown
R6407:Ighg2c	UTSW	12	113288651	missense	unknown
R6846:Ighg2c	UTSW	12	113288310	missense	unknown
R7052:Ighg2c	UTSW	12	113288723	missense
R7231:Ighg2c	UTSW	12	113288016	missense
R7513:Ighg2c	UTSW	12	113288851	missense
R8783:Ighg2c	UTSW	12	113288792	missense
R9175:Ighg2c	UTSW	12	113288879	missense
R9419:Ighg2c	UTSW	12	113287395	critical splice donor site	probably benign
Z1177:Ighg2c	UTSW	12	113287680	missense

Predicted Primers

PCR Primer
(F):5'- AGCCCGTGAGCTATGCTCTATACC -3'
(R):5'- TTGCCTCCACCAGCAGAAGAGATG -3'

Sequencing Primer
(F):5'- GAGCTATGCTCTATACCTTGGAAAG -3'
(R):5'- AAGAGTTCAGTCTGACCTGC -3'

Posted On

2013-11-08