Mutagenetix > Incidental Mutation

Incidental Mutation 'R8172:Igha'

634205

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 #

R8172 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113254830-113260236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 113259972 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 88 (D88G)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

100% (53/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	T	C	5: 24,543,610	M803V	probably benign	Het
Adcy5	T	A	16: 35,157,057	L320Q	probably damaging	Het
Adgre4	A	T	17: 55,797,769	L278F	probably benign	Het
Agfg2	C	A	5: 137,667,169	R108L	probably damaging	Het
Arap2	A	T	5: 62,621,981		probably null	Het
Ascl2	G	T	7: 142,968,599	N37K	possibly damaging	Het
Baiap3	C	A	17: 25,244,122	D1043Y	probably damaging	Het
Ccdc18	T	C	5: 108,163,774		probably null	Het
Cemip	T	A	7: 83,997,225	D205V	probably damaging	Het
Cenpn	G	A	8: 116,931,594	G93D	probably benign	Het
Clpsl2	T	A	17: 28,549,582	S23R	possibly damaging	Het
Cnot3	T	A	7: 3,658,725	I672N	possibly damaging	Het
Crygs	A	G	16: 22,806,542	Y50H	probably damaging	Het
Cyp4x1	T	C	4: 115,111,677	T403A	possibly damaging	Het
Dnajc28	G	A	16: 91,616,907	R150*	probably null	Het
Fam184b	C	T	5: 45,584,367	G174D	possibly damaging	Het
Fat2	T	A	11: 55,287,812	D1474V	probably damaging	Het
Flg2	T	A	3: 93,201,161	D165E	possibly damaging	Het
Fpr-rs7	A	T	17: 20,114,181	F16I	probably benign	Het
Gpr176	G	A	2: 118,284,134	T65I	probably damaging	Het
H2-Q10	C	T	17: 35,471,099	T206I	probably null	Het
Hadha	C	G	5: 30,145,287	A88P	probably damaging	Het
Hlcs	A	T	16: 94,267,626	L245Q	probably damaging	Het
Hnrnph1	T	C	11: 50,379,905	V113A	probably damaging	Het
Hsd3b7	G	A	7: 127,802,374	V224M	probably damaging	Het
Kdm7a	T	C	6: 39,149,031	K610R	probably benign	Het
Krt83	C	T	15: 101,485,403	C474Y	probably benign	Het
Lrrc74a	T	A	12: 86,741,756	L170H	probably damaging	Het
Lyg2	T	C	1: 37,907,667	T178A	probably benign	Het
Map2k2	T	A	10: 81,123,608		probably null	Het
Mast4	C	T	13: 102,953,125		probably null	Het
Mgea5	C	T	19: 45,776,900	R156H	probably damaging	Het
Mtmr14	T	A	6: 113,239,568	D8E	probably benign	Het
Neu2	C	T	1: 87,596,911	P206L	probably damaging	Het
Olfr1202	A	T	2: 88,817,642	Q157L	probably damaging	Het
Olfr122	A	G	17: 37,772,435	T261A	probably benign	Het
Poc1b	C	A	10: 99,144,476		probably null	Het
Proser1	T	A	3: 53,478,851	V718E	possibly damaging	Het
Ptgr2	T	A	12: 84,314,009	L351Q	possibly damaging	Het
Ptprf	A	G	4: 118,211,078	Y1754H	probably benign	Het
Scgb2b3	T	C	7: 31,359,051	K109R	possibly damaging	Het
Scn2a	A	T	2: 65,690,328	H556L	probably benign	Het
Scn7a	A	T	2: 66,675,847	M1566K	possibly damaging	Het
Slco5a1	A	T	1: 12,990,266	L77*	probably null	Het
Spert	T	A	14: 75,591,801		probably null	Het
Stk31	T	C	6: 49,417,327	F208L	possibly damaging	Het
Tbcd	C	T	11: 121,493,885	T315M	probably benign	Het
Tbx4	A	G	11: 85,911,107	I189V	probably benign	Het
Tia1	T	A	6: 86,427,700	Y306N	probably benign	Het
Ttc21b	T	A	2: 66,252,156	Y33F	probably benign	Het
Usp47	T	A	7: 112,087,926	L677*	probably null	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
R8738:Igha	UTSW	12	113259524	missense	probably damaging	1.00
R8951:Igha	UTSW	12	113259064	missense
R8985:Igha	UTSW	12	113258991	missense
R9803:Igha	UTSW	12	113259139	missense

Predicted Primers

PCR Primer
(F):5'- TCTGGATGTTCTGAGGCCTC -3'
(R):5'- GGCTGCCTGATTCACGATTAC -3'

Sequencing Primer
(F):5'- GAGGCCTCAGTTCCTTATGGC -3'
(R):5'- GATTCACGATTACTTCCCTTCCGG -3'

Posted On

2020-07-13