Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02307:Swap70'

287667

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Swap70

Ensembl Gene

ENSMUSG00000031015

Gene Name

SWA-70 protein

Synonyms

70kDa

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.224) question?

Stock #

IGL02307

Quality Score

Status

Chromosome

Chromosomal Location

109820918-109882713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109880501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 572 (E572G)

Ref Sequence

ENSEMBL: ENSMUSP00000033325 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033325]

AlphaFold

Q6A028

Predicted Effect

probably benign
Transcript: ENSMUST00000033325
AA Change: E572G

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000033325
Gene: ENSMUSG00000031015
AA Change: E572G

Domain	Start	End	E-Value	Type
PH	211	308	7.23e-20	SMART
coiled coil region	316	529	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210796

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in increased sensitivity of B lymphocytes to gamma-radiation, increased autoantibody levels, and lower IgE levels, both before and after immunization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,935,395 (GRCm39)	D323G	probably damaging	Het
Ankrd28	A	G	14: 31,455,665 (GRCm39)	C417R	probably damaging	Het
Astn1	C	T	1: 158,502,184 (GRCm39)	R1133C	probably damaging	Het
Bdp1	C	A	13: 100,229,946 (GRCm39)	G256V	probably damaging	Het
Cald1	A	G	6: 34,730,390 (GRCm39)	K252E	probably damaging	Het
Ccdc141	T	C	2: 76,859,686 (GRCm39)	E985G	probably damaging	Het
Cdc23	A	G	18: 34,774,442 (GRCm39)	I279T	possibly damaging	Het
Col16a1	C	T	4: 129,952,802 (GRCm39)	P416L	probably damaging	Het
Coro1a	T	C	7: 126,300,736 (GRCm39)	D197G	probably damaging	Het
Ctnnd2	C	T	15: 30,647,357 (GRCm39)	T351I	possibly damaging	Het
Fam76b	A	G	9: 13,755,332 (GRCm39)	N313S	probably damaging	Het
Fbxw20	C	A	9: 109,062,601 (GRCm39)	W75L	possibly damaging	Het
Gjd2	T	C	2: 113,842,394 (GRCm39)	T28A	possibly damaging	Het
Glyctk	A	C	9: 106,032,963 (GRCm39)	L350R	possibly damaging	Het
Gm20726	A	T	14: 54,870,060 (GRCm39)	V237D	probably damaging	Het
Gm57858	T	C	3: 36,073,016 (GRCm39)	K422R	possibly damaging	Het
Gpr22	C	A	12: 31,758,739 (GRCm39)	C461F	possibly damaging	Het
Grhl2	A	G	15: 37,288,532 (GRCm39)	T279A	probably damaging	Het
Gstm3	G	A	3: 107,874,929 (GRCm39)	R108C	probably damaging	Het
Haus6	T	C	4: 86,502,072 (GRCm39)	T600A	possibly damaging	Het
Htra4	G	A	8: 25,523,710 (GRCm39)	A285V	probably damaging	Het
Igkv14-100	C	T	6: 68,496,349 (GRCm39)	P81S	probably damaging	Het
Kif24	T	G	4: 41,395,274 (GRCm39)	Q533P	probably benign	Het
Klhl1	A	T	14: 96,438,809 (GRCm39)	N496K	possibly damaging	Het
Lama3	G	T	18: 12,714,840 (GRCm39)	R1667L	probably benign	Het
Lct	T	A	1: 128,214,327 (GRCm39)	H1815L	possibly damaging	Het
Mrgprb2	T	A	7: 48,202,644 (GRCm39)	Y27F	probably benign	Het
Mrpl15	A	T	1: 4,854,176 (GRCm39)	H86Q	possibly damaging	Het
Myo10	C	T	15: 25,776,401 (GRCm39)		probably benign	Het
Nrp1	T	C	8: 129,229,201 (GRCm39)	L893P	probably damaging	Het
Or4n4b	A	C	14: 50,536,295 (GRCm39)	I157S	probably damaging	Het
Or51a8	A	T	7: 102,550,086 (GRCm39)	N171Y	probably benign	Het
Ovol1	T	A	19: 5,603,643 (GRCm39)	D86V	possibly damaging	Het
Pacs2	T	A	12: 113,034,393 (GRCm39)	M851K	probably damaging	Het
Pde1a	A	T	2: 79,736,412 (GRCm39)	M39K	possibly damaging	Het
Pdpn	T	C	4: 143,000,550 (GRCm39)	H94R	possibly damaging	Het
Plcg2	T	A	8: 118,306,635 (GRCm39)		probably null	Het
Pzp	A	T	6: 128,466,049 (GRCm39)	Y1210*	probably null	Het
Rnf148	G	T	6: 23,654,890 (GRCm39)	S35R	probably benign	Het
Ros1	A	T	10: 52,004,534 (GRCm39)	S1008T	possibly damaging	Het
Rps18-ps6	G	T	13: 97,896,871 (GRCm39)	Q76K	probably benign	Het
Sis	A	T	3: 72,819,167 (GRCm39)		probably benign	Het
Spag9	T	A	11: 93,992,986 (GRCm39)		probably null	Het
Srbd1	A	G	17: 86,433,616 (GRCm39)	L327P	probably damaging	Het
Steap3	A	T	1: 120,169,390 (GRCm39)	Y264*	probably null	Het
Traf7	C	A	17: 24,732,020 (GRCm39)	C193F	possibly damaging	Het
Trmt11	T	C	10: 30,470,150 (GRCm39)	D58G	possibly damaging	Het
Tsc22d1	T	C	14: 76,653,901 (GRCm39)	S127P	probably damaging	Het
Usf1	T	A	1: 171,243,314 (GRCm39)	S30R	probably damaging	Het
Ush1c	A	G	7: 45,846,612 (GRCm39)		probably benign	Het
Utrn	A	T	10: 12,625,809 (GRCm39)	L124*	probably null	Het
Vmn2r75	T	C	7: 85,814,974 (GRCm39)	N173S	probably benign	Het
Zic2	T	C	14: 122,714,046 (GRCm39)	V320A	possibly damaging	Het

Other mutations in Swap70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01888:Swap70	APN	7	109,879,841 (GRCm39)	missense	probably damaging	1.00
IGL02429:Swap70	APN	7	109,863,179 (GRCm39)	missense	probably benign
IGL02741:Swap70	APN	7	109,873,856 (GRCm39)	missense	probably benign	0.01
galloping	UTSW	7	109,869,126 (GRCm39)	missense	probably benign
R0037:Swap70	UTSW	7	109,863,287 (GRCm39)	missense	possibly damaging	0.77
R0041:Swap70	UTSW	7	109,878,562 (GRCm39)	missense	probably benign	0.04
R0041:Swap70	UTSW	7	109,878,562 (GRCm39)	missense	probably benign	0.04
R0116:Swap70	UTSW	7	109,872,489 (GRCm39)	missense	probably benign	0.25
R1615:Swap70	UTSW	7	109,872,498 (GRCm39)	missense	probably benign	0.01
R1623:Swap70	UTSW	7	109,863,255 (GRCm39)	missense	probably benign	0.00
R1656:Swap70	UTSW	7	109,821,034 (GRCm39)	missense	probably benign	0.02
R1932:Swap70	UTSW	7	109,878,470 (GRCm39)	missense	possibly damaging	0.70
R3720:Swap70	UTSW	7	109,869,254 (GRCm39)	missense	probably damaging	0.98
R3753:Swap70	UTSW	7	109,867,088 (GRCm39)	missense	probably damaging	1.00
R4012:Swap70	UTSW	7	109,880,512 (GRCm39)	missense	possibly damaging	0.92
R4623:Swap70	UTSW	7	109,867,079 (GRCm39)	missense	probably benign	0.42
R6158:Swap70	UTSW	7	109,869,230 (GRCm39)	missense	probably damaging	1.00
R6180:Swap70	UTSW	7	109,869,188 (GRCm39)	missense	probably damaging	1.00
R6521:Swap70	UTSW	7	109,855,027 (GRCm39)	missense	probably benign	0.00
R6692:Swap70	UTSW	7	109,869,126 (GRCm39)	missense	probably benign
R6823:Swap70	UTSW	7	109,880,510 (GRCm39)	missense	possibly damaging	0.75
R6846:Swap70	UTSW	7	109,854,956 (GRCm39)	missense	possibly damaging	0.94
R7417:Swap70	UTSW	7	109,863,316 (GRCm39)	critical splice donor site	probably null
R7466:Swap70	UTSW	7	109,873,979 (GRCm39)	missense	probably benign	0.19
R7893:Swap70	UTSW	7	109,821,082 (GRCm39)	missense	probably benign	0.00
R8132:Swap70	UTSW	7	109,855,084 (GRCm39)	missense	probably damaging	0.99
R8351:Swap70	UTSW	7	109,821,105 (GRCm39)	missense	possibly damaging	0.77
R9392:Swap70	UTSW	7	109,865,191 (GRCm39)	critical splice donor site	probably null
R9703:Swap70	UTSW	7	109,872,512 (GRCm39)	missense	probably damaging	1.00
Z1177:Swap70	UTSW	7	109,872,488 (GRCm39)	missense	possibly damaging	0.79

Posted On

2015-04-16