Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Possibly non essential (E-score: 0.357) question?

Stock #

IGL02429

Quality Score

Status

Chromosome

Chromosomal Location

110221711-110283506 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110263972 bp

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]

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: 127,759,716	D245V	probably damaging	Het
Adamts16	G	A	13: 70,787,170		probably benign	Het
Arhgap36	A	G	X: 49,494,706	D77G	possibly damaging	Het
Asap1	A	T	15: 64,167,740	M187K	probably damaging	Het
Aspm	T	C	1: 139,479,810	V2145A	probably benign	Het
Casc4	A	G	2: 121,911,987	T306A	probably benign	Het
Cd46	T	C	1: 195,085,424	T110A	probably benign	Het
Chl1	T	A	6: 103,664,809		probably benign	Het
Clca3b	A	G	3: 144,828,135	L493S	probably damaging	Het
Col11a2	C	T	17: 34,042,292	T72M	probably damaging	Het
Cyfip1	T	A	7: 55,871,982		probably benign	Het
Frmd4b	T	C	6: 97,325,429		probably benign	Het
Glyr1	A	G	16: 5,019,376	M397T	probably benign	Het
Gtf2a1l	G	T	17: 88,668,713	M1I	probably null	Het
Hdac4	A	G	1: 92,012,695	L154P	probably benign	Het
Ints8	A	T	4: 11,231,720	C422S	probably damaging	Het
Kng2	T	A	16: 23,012,079	K160I	probably damaging	Het
Lrrc23	C	A	6: 124,778,167	A136S	probably damaging	Het
Ltf	T	C	9: 111,026,125	I402T	possibly damaging	Het
Lyst	G	A	13: 13,660,956	C1741Y	probably benign	Het
Mfsd4a	T	C	1: 132,028,499	H509R	probably benign	Het
Mthfd1l	A	G	10: 4,089,334	K782E	probably damaging	Het
Mvb12b	G	A	2: 33,827,788	R114W	probably damaging	Het
Myh4	A	T	11: 67,258,982	K1818*	probably null	Het
Myo1h	C	T	5: 114,359,738		probably benign	Het
Ncapd3	T	A	9: 27,089,302	S1402T	probably benign	Het
Nutm2	A	G	13: 50,469,480	N71S	probably benign	Het
Oas1c	C	A	5: 120,802,068	M344I	probably benign	Het
Olfr978	T	A	9: 39,993,842	F11I	probably benign	Het
Phldb1	A	G	9: 44,700,950	L1019P	probably damaging	Het
Plxnc1	T	C	10: 94,882,591	E494G	probably benign	Het
Pole	T	C	5: 110,299,800	I734T	probably benign	Het
Ppp1r3b	T	C	8: 35,384,615	S203P	probably benign	Het
Pth2r	G	T	1: 65,346,839	M240I	probably benign	Het
Ptprr	T	A	10: 116,273,767	F394I	probably damaging	Het
Rabgef1	T	C	5: 130,210,488	S265P	possibly damaging	Het
Rbpjl	A	G	2: 164,413,895	D353G	possibly damaging	Het
Rfc3	A	G	5: 151,651,131	Y8H	probably benign	Het
Rph3a	A	T	5: 120,980,124		probably null	Het
Runx1t1	A	T	4: 13,865,294		probably benign	Het
Slc37a1	T	A	17: 31,300,509		probably null	Het
Slc38a10	T	C	11: 120,134,888		probably benign	Het
Slc38a6	T	C	12: 73,350,568	V328A	probably benign	Het
Slf2	T	C	19: 44,941,728	S415P	probably benign	Het
Spata17	C	A	1: 187,140,434	R60L	possibly damaging	Het
Svil	T	A	18: 5,118,369	D2237E	probably benign	Het
Tnfrsf11a	A	G	1: 105,827,718	D505G	probably benign	Het
Traf1	A	G	2: 34,949,103	V70A	probably benign	Het
Traf3	T	A	12: 111,243,465	V165E	probably benign	Het
Trpc5	T	C	X: 144,411,799	E570G	probably damaging	Het
Ubash3a	A	G	17: 31,241,305	N601S	probably benign	Het
Vmn2r30	C	T	7: 7,334,244	C131Y	possibly damaging	Het
Vmn2r43	T	C	7: 8,255,552	I221V	probably benign	Het
Vmn2r97	T	A	17: 18,930,334	V481E	possibly damaging	Het
Wisp3	T	C	10: 39,154,993	N178S	probably benign	Het

Other mutations in Swap70

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01888:Swap70	APN	7	110280634	missense	probably damaging	1.00
IGL02307:Swap70	APN	7	110281294	missense	probably benign	0.05
IGL02741:Swap70	APN	7	110274649	missense	probably benign	0.01
R0037:Swap70	UTSW	7	110264080	missense	possibly damaging	0.77
R0041:Swap70	UTSW	7	110279355	missense	probably benign	0.04
R0041:Swap70	UTSW	7	110279355	missense	probably benign	0.04
R0116:Swap70	UTSW	7	110273282	missense	probably benign	0.25
R1615:Swap70	UTSW	7	110273291	missense	probably benign	0.01
R1623:Swap70	UTSW	7	110264048	missense	probably benign	0.00
R1656:Swap70	UTSW	7	110221827	missense	probably benign	0.02
R1932:Swap70	UTSW	7	110279263	missense	possibly damaging	0.70
R3720:Swap70	UTSW	7	110270047	missense	probably damaging	0.98
R3753:Swap70	UTSW	7	110267881	missense	probably damaging	1.00
R4012:Swap70	UTSW	7	110281305	missense	possibly damaging	0.92
R4623:Swap70	UTSW	7	110267872	missense	probably benign	0.42
R6158:Swap70	UTSW	7	110270023	missense	probably damaging	1.00
R6180:Swap70	UTSW	7	110269981	missense	probably damaging	1.00
R6521:Swap70	UTSW	7	110255820	missense	probably benign	0.00
R6692:Swap70	UTSW	7	110269919	missense	probably benign
R6823:Swap70	UTSW	7	110281303	missense	possibly damaging	0.75
R6846:Swap70	UTSW	7	110255749	missense	possibly damaging	0.94

Posted On

2015-04-16