Mutagenetix > Incidental Mutation

Incidental Mutation 'R6521:Swap70'

521272

Institutional Source

Beutler Lab

Gene Symbol

Swap70

Ensembl Gene

ENSMUSG00000031015

Gene Name

SWA-70 protein

Synonyms

70kDa

MMRRC Submission

044647-MU

Accession Numbers

Essential gene?

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

Stock #

R6521 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109820918-109882713 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109855027 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 109 (L109P)

Ref Sequence

ENSEMBL: ENSMUSP00000033325 (fasta)

Gene Model

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

AlphaFold

Q6A028

Predicted Effect

probably benign
Transcript: ENSMUST00000033325
AA Change: L109P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033325
Gene: ENSMUSG00000031015
AA Change: L109P

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

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.0%

Validation Efficiency

100% (48/48)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,769,968 (GRCm39)	S356T	probably benign	Het
Acsbg2	T	C	17: 57,168,565 (GRCm39)	M185V	probably benign	Het
Adgrv1	A	T	13: 81,581,771 (GRCm39)	F4758I	probably damaging	Het
Ank3	A	G	10: 69,828,596 (GRCm39)		probably benign	Het
Ankfy1	G	A	11: 72,621,308 (GRCm39)	R198Q	possibly damaging	Het
Ano4	A	G	10: 88,819,640 (GRCm39)	V537A	probably damaging	Het
Catsper2	A	G	2: 121,237,288 (GRCm39)	L204P	probably damaging	Het
Cdh20	A	C	1: 104,869,859 (GRCm39)	D193A	probably damaging	Het
Ceacam5	T	C	7: 17,484,756 (GRCm39)		probably null	Het
Celf4	T	A	18: 25,612,531 (GRCm39)		probably null	Het
Cfap91	A	G	16: 38,127,121 (GRCm39)	V545A	probably benign	Het
Crebbp	A	T	16: 3,936,992 (GRCm39)	F754I	probably damaging	Het
Cyfip2	A	T	11: 46,145,415 (GRCm39)	I635N	probably damaging	Het
Erbb4	T	A	1: 68,081,689 (GRCm39)	D1131V	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Hoxc8	G	A	15: 102,901,135 (GRCm39)	V193M	probably benign	Het
Klhdc3	A	G	17: 46,988,687 (GRCm39)	V124A	probably benign	Het
Klhl18	A	G	9: 110,257,703 (GRCm39)	I509T	possibly damaging	Het
Mdfic	T	A	6: 15,729,027 (GRCm39)		probably benign	Het
Mkln1	T	A	6: 31,467,479 (GRCm39)	D64E	probably damaging	Het
Mmd2	A	G	5: 142,560,585 (GRCm39)	I112T	probably damaging	Het
Mpl	C	T	4: 118,312,314 (GRCm39)		probably null	Het
Mtmr4	A	G	11: 87,504,353 (GRCm39)	T1044A	possibly damaging	Het
Muc5b	C	A	7: 141,412,908 (GRCm39)	Y1951*	probably null	Het
Myo15a	C	T	11: 60,393,195 (GRCm39)	H2240Y	probably damaging	Het
Nckap5	A	T	1: 126,309,909 (GRCm39)	I74K	probably damaging	Het
Nfxl1	A	T	5: 72,697,651 (GRCm39)		probably null	Het
Or11j4	T	C	14: 50,631,005 (GRCm39)	V264A	possibly damaging	Het
Or2ah1	A	T	2: 85,653,794 (GRCm39)	I160F	probably benign	Het
Or4c11c	A	G	2: 88,661,700 (GRCm39)	I80V	probably benign	Het
Or8d2	C	T	9: 38,759,893 (GRCm39)	T161I	probably benign	Het
Piezo2	T	C	18: 63,154,399 (GRCm39)	Y2460C	probably damaging	Het
Pigx	A	G	16: 31,906,129 (GRCm39)	L64P	probably damaging	Het
Prss1	C	T	6: 41,440,615 (GRCm39)	T230I	probably damaging	Het
Ptma	A	G	1: 86,455,569 (GRCm39)		probably null	Het
Rab39	T	C	9: 53,617,331 (GRCm39)	T29A	probably benign	Het
Rem2	C	T	14: 54,715,144 (GRCm39)	A107V	possibly damaging	Het
Senp1	A	G	15: 97,946,152 (GRCm39)	V531A	probably damaging	Het
Serhl	A	G	15: 82,985,843 (GRCm39)		probably null	Het
Sirpa	T	G	2: 129,472,075 (GRCm39)	Y164D	probably damaging	Het
Slc12a3	T	C	8: 95,069,741 (GRCm39)	I550T	possibly damaging	Het
Slc22a14	T	C	9: 119,049,835 (GRCm39)		probably null	Het
Slfn5	A	G	11: 82,851,241 (GRCm39)	N513D	probably damaging	Het
Sptan1	T	C	2: 29,910,467 (GRCm39)	S1831P	possibly damaging	Het
Tas2r119	G	A	15: 32,178,319 (GRCm39)	C295Y	probably damaging	Het
Tcaf3	T	A	6: 42,570,172 (GRCm39)	I527L	probably damaging	Het
Traj31	A	G	14: 54,425,387 (GRCm39)		probably benign	Het
Unc5a	T	A	13: 55,152,748 (GRCm39)	D887E	probably benign	Het
Zfp407	T	A	18: 84,450,536 (GRCm39)	H1600L	probably 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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGTATTTTCTCTGATATGCGCCTG -3'
(R):5'- TGGGCTTTCTGGATTCAACCTG -3'

Sequencing Primer
(F):5'- GCGTGTGCATATGTGTCA -3'
(R):5'- GGATTCAACCTGTTTTGCCTCTG -3'

Posted On

2018-06-06