Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01565:Swsap1'

90952

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Swsap1

Ensembl Gene

ENSMUSG00000051238

Gene Name

SWIM type zinc finger 7 associated protein 1

Synonyms

2310047B19Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL01565

Quality Score

Status

Chromosome

Chromosomal Location

21867051-21869560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21868524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 265 (D265E)

Ref Sequence

ENSEMBL: ENSMUSP00000060331 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006397] [ENSMUST00000053583] [ENSMUST00000213181]

AlphaFold

Q8VCI7

Predicted Effect

probably benign
Transcript: ENSMUST00000006397

SMART Domains

Protein: ENSMUSP00000006397
Gene: ENSMUSG00000006235

Domain	Start	End	E-Value	Type
Pfam:EpoR_lig-bind	37	139	9.1e-30	PFAM
FN3	144	227	2.48e-6	SMART
transmembrane domain	250	272	N/A	INTRINSIC
low complexity region	434	451	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053583
AA Change: D265E

PolyPhen 2 Score 0.574 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000060331
Gene: ENSMUSG00000051238
AA Change: D265E

Domain	Start	End	E-Value	Type
low complexity region	21	33	N/A	INTRINSIC
low complexity region	40	52	N/A	INTRINSIC
Blast:AAA	53	189	3e-34	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000213181

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	G	10: 100,439,222 (GRCm39)	T36A	probably damaging	Het
Ankrd35	A	G	3: 96,592,101 (GRCm39)	M796V	probably damaging	Het
Brpf1	A	T	6: 113,293,611 (GRCm39)	Q560L	probably damaging	Het
Dbil5	T	G	11: 76,109,091 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 65,924,655 (GRCm39)	K2200E	possibly damaging	Het
Gtf2i	T	C	5: 134,284,767 (GRCm39)	I471V	probably damaging	Het
Has3	T	A	8: 107,601,077 (GRCm39)	W180R	probably benign	Het
Lrfn1	T	C	7: 28,158,194 (GRCm39)	C38R	probably damaging	Het
Lrsam1	C	T	2: 32,826,507 (GRCm39)	A455T	probably damaging	Het
Mettl2	C	A	11: 105,017,364 (GRCm39)	D14E	probably benign	Het
Mocs1	G	A	17: 49,759,348 (GRCm39)	R364Q	probably benign	Het
Ndst2	A	T	14: 20,778,274 (GRCm39)	V435E	probably damaging	Het
Pi4ka	A	T	16: 17,207,306 (GRCm39)		probably benign	Het
Pigr	A	C	1: 130,772,211 (GRCm39)	D143A	possibly damaging	Het
Polq	A	C	16: 36,833,475 (GRCm39)	N56T	probably benign	Het
Prmt7	T	G	8: 106,977,041 (GRCm39)	D584E	probably damaging	Het
R3hdm1	A	T	1: 128,114,553 (GRCm39)	Q511H	probably damaging	Het
Rbm33	T	C	5: 28,596,077 (GRCm39)		probably benign	Het
Rdh19	T	G	10: 127,695,464 (GRCm39)	M226R	probably benign	Het
Rock2	G	A	12: 17,003,318 (GRCm39)	D386N	possibly damaging	Het
Slc7a2	A	G	8: 41,352,275 (GRCm39)	T96A	possibly damaging	Het
Spata2	A	G	2: 167,326,214 (GRCm39)	S202P	probably damaging	Het
Tdrd3	A	T	14: 87,709,668 (GRCm39)	I117L	probably benign	Het
Ticrr	A	G	7: 79,344,296 (GRCm39)	D1387G	probably benign	Het
Tnfaip6	A	G	2: 51,945,846 (GRCm39)	S231G	probably damaging	Het
Trim50	T	A	5: 135,396,355 (GRCm39)	D434E	probably benign	Het
Tyw5	T	C	1: 57,433,240 (GRCm39)	Y105C	probably damaging	Het
Usp50	G	T	2: 126,619,888 (GRCm39)	C141*	probably null	Het
Zfp647	A	T	15: 76,795,870 (GRCm39)	C263*	probably null	Het

Other mutations in Swsap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0012:Swsap1	UTSW	9	21,868,318 (GRCm39)	missense	probably benign	0.12
R1341:Swsap1	UTSW	9	21,868,450 (GRCm39)	missense	probably benign	0.18
R1758:Swsap1	UTSW	9	21,867,280 (GRCm39)	nonsense	probably null
R1905:Swsap1	UTSW	9	21,867,988 (GRCm39)	missense	probably damaging	1.00
R4825:Swsap1	UTSW	9	21,867,284 (GRCm39)	missense	probably benign	0.32
R5597:Swsap1	UTSW	9	21,867,242 (GRCm39)	missense	probably damaging	1.00
R6695:Swsap1	UTSW	9	21,867,971 (GRCm39)	critical splice acceptor site	probably null
R9628:Swsap1	UTSW	9	21,867,172 (GRCm39)	missense
Z1177:Swsap1	UTSW	9	21,867,271 (GRCm39)	missense	probably benign	0.22

Posted On

2013-12-09