Mutagenetix > Incidental Mutation

Incidental Mutation 'R5931:Igha'

461866

Institutional Source

Beutler Lab

Gene Symbol

Igha

Ensembl Gene

ENSMUSG00000095079

Gene Name

immunoglobulin heavy constant alpha

Synonyms

IgA, Igh-2

MMRRC Submission

044126-MU

Accession Numbers

Essential gene?

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

Stock #

R5931 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

113254830-113260236 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 113260090 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 49 (T49S)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000178282
AA Change: T49S

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

probably benign
Transcript: ENSMUST00000194738
AA Change: T49S

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930402H24Rik	G	A	2: 130,814,189	T2M	probably damaging	Het
4930590J08Rik	A	T	6: 91,919,115	R315W	probably damaging	Het
Atrn	A	T	2: 130,933,436	Y153F	possibly damaging	Het
C4b	A	G	17: 34,729,193	V1644A	probably damaging	Het
Carmil3	A	C	14: 55,498,940	K654T	probably damaging	Het
Cdh1	T	C	8: 106,666,332		probably null	Het
Chrna1	C	T	2: 73,568,100	V332M	probably benign	Het
Clca2	A	C	3: 145,092,125	V193G	possibly damaging	Het
Cyld	A	G	8: 88,729,842		probably null	Het
Dbt	A	T	3: 116,523,425	E83D	possibly damaging	Het
Deup1	T	C	9: 15,561,322	R471G	possibly damaging	Het
Dgcr2	T	A	16: 17,857,309	I188F	possibly damaging	Het
Dgkg	G	A	16: 22,558,038	R524*	probably null	Het
Dnah5	A	T	15: 28,453,279	R4399W	probably damaging	Het
Egflam	G	A	15: 7,243,857	T579I	possibly damaging	Het
Eif2b2	C	T	12: 85,222,787	T211I	probably damaging	Het
Ep400	A	G	5: 110,735,520		probably benign	Het
Ermp1	C	G	19: 29,615,729	A788P	probably benign	Het
Ern1	A	G	11: 106,426,873	S142P	possibly damaging	Het
Fbxo15	T	A	18: 84,981,125	C351S	probably damaging	Het
Fndc3a	A	T	14: 72,568,867	S444T	probably benign	Het
Gabra6	G	A	11: 42,307,441	T384M	probably benign	Het
Gm6169	A	G	13: 97,099,197	L14S	probably benign	Het
Gpbp1l1	T	C	4: 116,590,260	V379A	probably benign	Het
Hook2	G	T	8: 84,995,746	E305*	probably null	Het
Hoxa3	G	A	6: 52,172,588	A21V	probably damaging	Het
Hs1bp3	C	A	12: 8,341,915	P339Q	probably benign	Het
Klra4	C	T	6: 130,053,053	V190M	possibly damaging	Het
Lats2	A	G	14: 57,696,131	L843P	probably damaging	Het
Lcmt1	A	G	7: 123,421,616	T255A	probably benign	Het
Lpar6	A	G	14: 73,238,928	I110V	probably damaging	Het
Lrrtm4	A	G	6: 80,021,739	I44V	probably damaging	Het
Mcm3ap	T	C	10: 76,471,166	V371A	probably benign	Het
Muc20	A	T	16: 32,794,574	D144E	possibly damaging	Het
Nphp3	T	A	9: 104,020,746	D417E	probably damaging	Het
Olfr853	A	T	9: 19,537,333	I199K	probably benign	Het
Olfr889	A	G	9: 38,116,374	I193V	probably benign	Het
Paqr7	A	C	4: 134,507,720	Y296S	probably damaging	Het
Pcdha4	A	T	18: 36,954,755	T664S	probably damaging	Het
Pelo	T	A	13: 115,088,843	Y282F	probably benign	Het
Plxna2	A	T	1: 194,810,870	I1818F	probably damaging	Het
Pnkd	A	G	1: 74,350,674	D319G	probably benign	Het
Pnmal1	C	A	7: 16,960,884	N221K	probably benign	Het
Ppp1cb	T	A	5: 32,483,466		probably null	Het
Prkca	T	G	11: 108,014,310	I201L	probably benign	Het
Rfx2	G	A	17: 56,780,778	R538C	probably damaging	Het
Rph3a	T	C	5: 120,963,873	Q100R	probably damaging	Het
Rtel1	C	T	2: 181,330,815	R29*	probably null	Het
Scel	T	A	14: 103,605,624	Y547*	probably null	Het
Sp100	C	T	1: 85,679,083	P303L	probably damaging	Het
Stk31	A	G	6: 49,469,302	S958G	probably benign	Het
Syne2	T	A	12: 76,008,865	V4168E	probably benign	Het
Tenm3	A	T	8: 48,646,498	S91T	probably benign	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,357,755		probably benign	Het
Tmem248	T	A	5: 130,229,508	I14N	probably damaging	Het
Tor3a	T	C	1: 156,656,487	I298V	probably benign	Het
Trim69	A	T	2: 122,178,594	K378N	probably damaging	Het
Ttc28	C	T	5: 111,085,109	P151S	possibly damaging	Het
Uaca	T	C	9: 60,872,012	V1225A	probably damaging	Het
Vps4b	T	C	1: 106,777,335	I343V	probably benign	Het
Wnk4	A	G	11: 101,261,221	T184A	probably damaging	Het
Ythdc2	T	A	18: 44,872,956	I1172K	possibly 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
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
R8951:Igha	UTSW	12	113259064	missense
R8985:Igha	UTSW	12	113258991	missense
R9803:Igha	UTSW	12	113259139	missense

Predicted Primers

PCR Primer
(F):5'- CCTAACGTTCTTTACCAGAGCAC -3'
(R):5'- TACTGGGCTAGGTTCTCCTG -3'

Sequencing Primer
(F):5'- AGAGCACTTCACATCCAATTCTTG -3'
(R):5'- GGCAGTGTGAAGACTACTATCTC -3'

Posted On

2017-02-28