Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01085:Swi5'

50456

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Swi5

Ensembl Gene

ENSMUSG00000044627

Gene Name

SWI5 recombination repair homolog (yeast)

Synonyms

2900010J23Rik, 1500019F05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

IGL01085

Quality Score

Status

Chromosome

Chromosomal Location

32168828-32178087 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32170739 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 95 (M95V)

Ref Sequence

ENSEMBL: ENSMUSP00000109027 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050410] [ENSMUST00000113395] [ENSMUST00000113397] [ENSMUST00000113400] [ENSMUST00000140406] [ENSMUST00000183946]

AlphaFold

Q8K3D3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050410
AA Change: M105V

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000057512
Gene: ENSMUSG00000044627
AA Change: M105V

Domain	Start	End	E-Value	Type
Pfam:Swi5	9	89	7.5e-28	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113395
AA Change: M63V

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000109022
Gene: ENSMUSG00000044627
AA Change: M63V

Domain	Start	End	E-Value	Type
Pfam:Swi5	9	89	7.5e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113397

SMART Domains

Protein: ENSMUSP00000109024
Gene: ENSMUSG00000044627

Domain	Start	End	E-Value	Type
Pfam:Swi5	1	59	9.9e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000113400
AA Change: M95V

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109027
Gene: ENSMUSG00000044627
AA Change: M95V

Domain	Start	End	E-Value	Type
Pfam:Swi5	45	120	1.5e-26	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127131

Predicted Effect

probably benign
Transcript: ENSMUST00000140406
AA Change: M101V

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000139369
Gene: ENSMUSG00000044627
AA Change: M101V

Domain	Start	End	E-Value	Type
Pfam:Swi5	47	120	1.3e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183946
AA Change: M63V

PolyPhen 2 Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000139299
Gene: ENSMUSG00000044627
AA Change: M63V

Domain	Start	End	E-Value	Type
Pfam:Swi5	9	89	7.5e-28	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	G	3: 59,944,763 (GRCm39)		probably benign	Het
Acp7	T	C	7: 28,310,478 (GRCm39)	Y453C	probably damaging	Het
Bop1	T	C	15: 76,337,576 (GRCm39)	D683G	probably damaging	Het
Cacna1b	G	T	2: 24,569,006 (GRCm39)	R974S	probably damaging	Het
Ceacam23	A	T	7: 17,649,616 (GRCm39)	H729L	possibly damaging	Het
Cenpt	T	C	8: 106,573,297 (GRCm39)	E350G	possibly damaging	Het
Cep112	G	T	11: 108,377,432 (GRCm39)	R270L	probably damaging	Het
Crem	T	C	18: 3,299,236 (GRCm39)	T26A	probably damaging	Het
Crot	T	C	5: 9,023,955 (GRCm39)	H387R	probably damaging	Het
Fdxr	A	T	11: 115,160,402 (GRCm39)	V351E	probably benign	Het
Fkbpl	T	C	17: 34,864,718 (GRCm39)	L162P	probably damaging	Het
Fmn2	T	A	1: 174,523,220 (GRCm39)	N1358K	probably damaging	Het
Hectd4	G	T	5: 121,469,764 (GRCm39)	G2553V	probably damaging	Het
Ifna16	A	T	4: 88,594,969 (GRCm39)	I42K	probably benign	Het
Igfals	C	T	17: 25,100,634 (GRCm39)	T575I	probably benign	Het
Il6	G	T	5: 30,218,487 (GRCm39)	V28F	probably damaging	Het
Irx1	A	G	13: 72,107,816 (GRCm39)	S289P	probably benign	Het
Ncoa2	T	C	1: 13,219,303 (GRCm39)	T1245A	possibly damaging	Het
Nr3c2	G	T	8: 77,634,983 (GRCm39)	R28L	probably benign	Het
Nudt5	G	A	2: 5,869,238 (GRCm39)	V155I	probably benign	Het
Or9s13	G	T	1: 92,547,921 (GRCm39)	V98F	possibly damaging	Het
Pcm1	T	C	8: 41,762,640 (GRCm39)	S1395P	probably damaging	Het
Pkhd1l1	G	A	15: 44,426,148 (GRCm39)		probably null	Het
Prodh	A	T	16: 17,894,208 (GRCm39)	V339E	probably damaging	Het
Rbm48	C	T	5: 3,634,762 (GRCm39)	V401M	probably benign	Het
Retreg3	G	A	11: 100,991,751 (GRCm39)	Q61*	probably null	Het
Rif1	A	G	2: 51,975,152 (GRCm39)	M354V	possibly damaging	Het
Rrn3	G	A	16: 13,626,926 (GRCm39)	V507M	probably damaging	Het
Safb2	T	A	17: 56,872,242 (GRCm39)	R197*	probably null	Het
Slc22a26	A	G	19: 7,767,464 (GRCm39)	V314A	probably benign	Het
Slfnl1	G	T	4: 120,390,553 (GRCm39)	R68L	probably damaging	Het
Spata1	G	T	3: 146,181,997 (GRCm39)	Q10K	possibly damaging	Het
Thpo	T	C	16: 20,547,205 (GRCm39)	D52G	probably damaging	Het
Tmem101	A	T	11: 102,045,486 (GRCm39)	L121Q	probably damaging	Het
Trim40	T	C	17: 37,194,133 (GRCm39)	I187V	probably benign	Het
Usp33	A	G	3: 152,074,206 (GRCm39)	K351E	possibly damaging	Het
Uvrag	T	C	7: 98,767,431 (GRCm39)	T67A	probably damaging	Het
Vcan	T	C	13: 89,828,077 (GRCm39)	D2163G	probably damaging	Het
Wnt7a	C	T	6: 91,385,771 (GRCm39)	V61I	probably benign	Het
Zfp804b	A	G	5: 6,820,931 (GRCm39)	S675P	probably damaging	Het

Other mutations in Swi5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0282:Swi5	UTSW	2	32,170,766 (GRCm39)	missense	probably damaging	1.00
R0452:Swi5	UTSW	2	32,171,836 (GRCm39)	splice site	probably benign
R1528:Swi5	UTSW	2	32,170,716 (GRCm39)	splice site	probably null
R4025:Swi5	UTSW	2	32,171,800 (GRCm39)	missense	possibly damaging	0.83
R4539:Swi5	UTSW	2	32,169,092 (GRCm39)	missense	possibly damaging	0.78
R7208:Swi5	UTSW	2	32,177,922 (GRCm39)	missense	probably benign	0.01
R8334:Swi5	UTSW	2	32,170,463 (GRCm39)	intron	probably benign
R9523:Swi5	UTSW	2	32,170,739 (GRCm39)	missense	possibly damaging	0.94

Posted On

2013-06-21