Mutagenetix > Incidental Mutation

Incidental Mutation 'R8951:Igha'

681665

Institutional Source

Beutler Lab

Gene Symbol

Igha

Ensembl Gene

ENSMUSG00000095079

Gene Name

immunoglobulin heavy constant alpha

Synonyms

IgA, Igh-2

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R8951 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113254830-113260236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113259064 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 246 (N246Y)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

99% (73/74)

MGI Phenotype

PHENOTYPE: Homozygous null mice have no detectable levels of IgA, decreased levels of IgG3, and increased levels of most other classes of immunoglobulins. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam11	T	C	11: 102,774,367		probably null	Het
Adcy6	A	T	15: 98,604,259	V158E	possibly damaging	Het
Adgrg3	T	C	8: 95,034,734		probably benign	Het
Arsb	T	C	13: 93,807,616	S272P	probably damaging	Het
Asb10	A	C	5: 24,537,954	C260W	probably damaging	Het
Atp13a1	A	G	8: 69,793,834	D158G	probably benign	Het
Bcl6	T	C	16: 23,974,954	E81G	probably damaging	Het
C130026I21Rik	G	A	1: 85,246,950	S288L	possibly damaging	Het
C7	A	T	15: 5,002,749	V660E	probably benign	Het
Cacna1c	T	C	6: 118,613,339	D1401G	probably damaging	Het
Ccp110	A	G	7: 118,721,792	I223M	possibly damaging	Het
Cilp	A	G	9: 65,272,938	E187G	probably benign	Het
Cmc2	T	C	8: 116,911,165	N15S	probably damaging	Het
Cnnm3	T	A	1: 36,518,938		probably benign	Het
Col27a1	T	G	4: 63,273,074	M828R	possibly damaging	Het
Cpm	C	T	10: 117,676,033	P294L	probably damaging	Het
Cpt1a	G	C	19: 3,362,211	A228P	probably benign	Het
Ctbp1	A	G	5: 33,259,335	V43A	probably damaging	Het
Cylc2	A	T	4: 51,229,469	E270D	unknown	Het
Cyp46a1	A	C	12: 108,346,089	R119S	possibly damaging	Het
Dctn3	A	T	4: 41,719,845	I87N	probably damaging	Het
Dhdds	C	T	4: 133,992,546	V25I	possibly damaging	Het
Entpd1	A	C	19: 40,738,875	N489T	probably damaging	Het
Fam110a	T	C	2: 151,970,541	D103G	probably damaging	Het
Foxo6	T	A	4: 120,267,936	Q554L	unknown	Het
Gbp5	T	A	3: 142,500,720	M55K	probably damaging	Het
Gm20730	T	C	6: 43,081,704	Y58C	possibly damaging	Het
Gm8871	T	A	5: 11,042,832	Y79*	probably null	Het
Grip1	T	A	10: 120,038,604	S679T	possibly damaging	Het
Gtdc1	A	C	2: 44,789,018		probably benign	Het
Idh2	TCCCAGG	T	7: 80,098,331		probably benign	Het
Ighg2b	T	A	12: 113,307,306	T104S	probably benign	Het
Ighmbp2	C	T	19: 3,268,726	W450*	probably null	Het
Ipo11	T	C	13: 106,842,182	E839G	possibly damaging	Het
Iqce	T	C	5: 140,689,823	D207G	probably damaging	Het
Irgm2	T	C	11: 58,219,582	V45A	possibly damaging	Het
Itga1	C	T	13: 114,970,491	W1021*	probably null	Het
Itga3	T	C	11: 95,054,085	Y799C	probably damaging	Het
Klf1	T	C	8: 84,903,283	S246P	possibly damaging	Het
Kras	A	T	6: 145,220,612	M188K	probably benign	Het
Lacc1	C	T	14: 77,035,173	C61Y	probably benign	Het
Lect2	T	A	13: 56,543,009		probably benign	Het
Leng9	G	A	7: 4,149,783		probably benign	Het
Lhx9	A	G	1: 138,841,966	C6R	probably damaging	Het
Matn3	T	A	12: 8,952,172	I128K	probably damaging	Het
Ndst1	T	C	18: 60,697,124	E638G	probably benign	Het
Nell2	A	T	15: 95,241,543	C603S	probably damaging	Het
Nicn1	C	T	9: 108,294,509	R163C	possibly damaging	Het
Oas1h	T	G	5: 120,862,594	F89C	probably damaging	Het
Olfr1175-ps	C	T	2: 88,323,631	G25S	probably damaging	Het
Olfr1426	A	T	19: 12,088,692	Y33*	probably null	Het
Olfr1453	T	A	19: 13,027,463	S289C		Het
Olfr685	A	G	7: 105,180,431	V294A	probably damaging	Het
P2ry2	G	A	7: 100,998,021	T359I	probably damaging	Het
Pbxip1	T	A	3: 89,445,557	V170E	probably benign	Het
Pcdhb20	T	A	18: 37,506,093	N557K	probably damaging	Het
Pdilt	A	G	7: 119,500,388	V219A	possibly damaging	Het
Plec	G	T	15: 76,183,110	S1149*	probably null	Het
Pnkp	C	T	7: 44,858,193	T61I	possibly damaging	Het
Prss56	T	A	1: 87,188,027	V541D	probably damaging	Het
Rab40c	A	G	17: 25,919,433	V25A	probably damaging	Het
Rgs8	A	T	1: 153,670,821	H22L	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Slc1a2	T	C	2: 102,756,008	V319A	probably damaging	Het
Spata18	A	T	5: 73,671,229	I378F	probably damaging	Het
Stag1	T	C	9: 100,880,801	V485A	probably damaging	Het
Tas2r104	T	A	6: 131,685,606	I47F	probably damaging	Het
Thumpd1	A	T	7: 119,718,248	H143Q	possibly damaging	Het
Tmem231	T	C	8: 111,914,065	Q272R	probably damaging	Het
Tnfaip2	A	G	12: 111,445,876	D237G	probably benign	Het
Tox3	T	C	8: 90,347,915	D12G	probably benign	Het
Twistnb	G	T	12: 33,437,868	E261*	probably null	Het
Vmn1r1	A	G	1: 182,157,744	S119P	probably damaging	Het
Xrn1	A	G	9: 95,988,946	E608G	probably benign	Het
Zfp395	T	C	14: 65,392,079	C281R	probably damaging	Het

Other mutations in Igha

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03014:Igha	UTSW	12	113259093	missense	unknown
R0078:Igha	UTSW	12	113259927	splice site	probably benign
R3973:Igha	UTSW	12	113256352	unclassified	probably benign
R4131:Igha	UTSW	12	113258829	critical splice donor site	probably benign
R4866:Igha	UTSW	12	113259509	missense	probably benign	0.30
R5931:Igha	UTSW	12	113260090	missense	probably benign	0.05
R6101:Igha	UTSW	12	113256397	unclassified	probably benign
R7735:Igha	UTSW	12	113256399	critical splice acceptor site	probably benign
R8172:Igha	UTSW	12	113259972	missense
R8738:Igha	UTSW	12	113259524	missense	probably damaging	1.00
R8985:Igha	UTSW	12	113258991	missense
R9803:Igha	UTSW	12	113259139	missense

Predicted Primers

PCR Primer
(F):5'- GAGTACTGGTCACCCTGTTTCC -3'
(R):5'- AGATGCTCAACTAACTGCTCC -3'

Sequencing Primer
(F):5'- GTTTCCAGAGTTCAGCTGATACACG -3'
(R):5'- ATTGGAGCTATCTGAGGAACTGCC -3'

Posted On

2021-08-31