Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02429:Swap70'

293064

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 #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

109820918-109882713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109863179 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 169 (N169K)

Ref Sequence

ENSEMBL: ENSMUSP00000033325 (fasta)

Gene Model

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

AlphaFold

Q6A028

Predicted Effect

probably benign
Transcript: ENSMUST00000033325
AA Change: N169K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000033325
Gene: ENSMUSG00000031015
AA Change: N169K

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: ENSMUST00000210513

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210743

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	A	T	1: 127,687,453 (GRCm39)	D245V	probably damaging	Het
Adamts16	G	A	13: 70,935,289 (GRCm39)		probably benign	Het
Arhgap36	A	G	X: 48,583,583 (GRCm39)	D77G	possibly damaging	Het
Asap1	A	T	15: 64,039,589 (GRCm39)	M187K	probably damaging	Het
Aspm	T	C	1: 139,407,548 (GRCm39)	V2145A	probably benign	Het
Ccn6	T	C	10: 39,030,989 (GRCm39)	N178S	probably benign	Het
Cd46	T	C	1: 194,767,732 (GRCm39)	T110A	probably benign	Het
Chl1	T	A	6: 103,641,770 (GRCm39)		probably benign	Het
Clca3b	A	G	3: 144,533,896 (GRCm39)	L493S	probably damaging	Het
Col11a2	C	T	17: 34,261,266 (GRCm39)	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,521,730 (GRCm39)		probably benign	Het
Frmd4b	T	C	6: 97,302,390 (GRCm39)		probably benign	Het
Glyr1	A	G	16: 4,837,240 (GRCm39)	M397T	probably benign	Het
Golm2	A	G	2: 121,742,468 (GRCm39)	T306A	probably benign	Het
Gtf2a1l	G	T	17: 88,976,141 (GRCm39)	M1I	probably null	Het
Hdac4	A	G	1: 91,940,417 (GRCm39)	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720 (GRCm39)	C422S	probably damaging	Het
Kng2	T	A	16: 22,830,829 (GRCm39)	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,755,130 (GRCm39)	A136S	probably damaging	Het
Ltf	T	C	9: 110,855,193 (GRCm39)	I402T	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 131,956,237 (GRCm39)	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,039,334 (GRCm39)	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,717,800 (GRCm39)	R114W	probably damaging	Het
Myh4	A	T	11: 67,149,808 (GRCm39)	K1818*	probably null	Het
Myo1h	C	T	5: 114,497,799 (GRCm39)		probably benign	Het
Ncapd3	T	A	9: 27,000,598 (GRCm39)	S1402T	probably benign	Het
Nutm2	A	G	13: 50,623,516 (GRCm39)	N71S	probably benign	Het
Oas1c	C	A	5: 120,940,133 (GRCm39)	M344I	probably benign	Het
Or10g7	T	A	9: 39,905,138 (GRCm39)	F11I	probably benign	Het
Phldb1	A	G	9: 44,612,247 (GRCm39)	L1019P	probably damaging	Het
Plxnc1	T	C	10: 94,718,453 (GRCm39)	E494G	probably benign	Het
Pole	T	C	5: 110,447,666 (GRCm39)	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,851,769 (GRCm39)	S203P	probably benign	Het
Pth2r	G	T	1: 65,385,998 (GRCm39)	M240I	probably benign	Het
Ptprr	T	A	10: 116,109,672 (GRCm39)	F394I	probably damaging	Het
Rabgef1	T	C	5: 130,239,329 (GRCm39)	S265P	possibly damaging	Het
Rbpjl	A	G	2: 164,255,815 (GRCm39)	D353G	possibly damaging	Het
Rfc3	A	G	5: 151,574,596 (GRCm39)	Y8H	probably benign	Het
Rph3a	A	T	5: 121,118,187 (GRCm39)		probably null	Het
Runx1t1	A	T	4: 13,865,294 (GRCm39)		probably benign	Het
Slc37a1	T	A	17: 31,519,483 (GRCm39)		probably null	Het
Slc38a10	T	C	11: 120,025,714 (GRCm39)		probably benign	Het
Slc38a6	T	C	12: 73,397,342 (GRCm39)	V328A	probably benign	Het
Slf2	T	C	19: 44,930,167 (GRCm39)	S415P	probably benign	Het
Spata17	C	A	1: 186,872,631 (GRCm39)	R60L	possibly damaging	Het
Svil	T	A	18: 5,118,369 (GRCm39)	D2237E	probably benign	Het
Tnfrsf11a	A	G	1: 105,755,443 (GRCm39)	D505G	probably benign	Het
Traf1	A	G	2: 34,839,115 (GRCm39)	V70A	probably benign	Het
Traf3	T	A	12: 111,209,899 (GRCm39)	V165E	probably benign	Het
Trpc5	T	C	X: 143,194,795 (GRCm39)	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,460,279 (GRCm39)	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,337,243 (GRCm39)	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,258,551 (GRCm39)	I221V	probably benign	Het
Vmn2r97	T	A	17: 19,150,596 (GRCm39)	V481E	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
IGL02307:Swap70	APN	7	109,880,501 (GRCm39)	missense	probably benign	0.05
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