Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00863:Serf2'

11384

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Serf2

Ensembl Gene

ENSMUSG00000074884

Gene Name

small EDRK-rich factor 2

Synonyms

m4F5rel, 4F5rel (4F5 related)

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00863

Quality Score

Status

Chromosome

Chromosomal Location

121279679-121283901 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 121288184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117946 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056312] [ENSMUST00000056732] [ENSMUST00000110612] [ENSMUST00000110613] [ENSMUST00000154418] [ENSMUST00000126764] [ENSMUST00000148575] [ENSMUST00000139253]

AlphaFold

P84102

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000028677

Predicted Effect

probably benign
Transcript: ENSMUST00000056312

SMART Domains

Protein: ENSMUSP00000051261
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	33	488	3e-125	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000056732

SMART Domains

Protein: ENSMUSP00000049548
Gene: ENSMUSG00000048222

Domain	Start	End	E-Value	Type
low complexity region	51	59	N/A	INTRINSIC
low complexity region	64	84	N/A	INTRINSIC
low complexity region	108	123	N/A	INTRINSIC
coiled coil region	134	150	N/A	INTRINSIC
Pfam:MFAP1	190	399	1.6e-81	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000110612

SMART Domains

Protein: ENSMUSP00000106242
Gene: ENSMUSG00000027245

Domain	Start	End	E-Value	Type
coiled coil region	69	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110613

SMART Domains

Protein: ENSMUSP00000106243
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	34	280	5.6e-67	PFAM
low complexity region	342	364	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125849

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126678

Predicted Effect

probably benign
Transcript: ENSMUST00000154418

Predicted Effect

probably null
Transcript: ENSMUST00000126764

SMART Domains

Protein: ENSMUSP00000117946
Gene: ENSMUSG00000027245

Domain	Start	End	E-Value	Type
coiled coil region	69	111	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148575

SMART Domains

Protein: ENSMUSP00000121895
Gene: ENSMUSG00000074884

Domain	Start	End	E-Value	Type
Pfam:4F5	1	38	2.9e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134412

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131870

Predicted Effect

probably benign
Transcript: ENSMUST00000140135

SMART Domains

Protein: ENSMUSP00000117054
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	1	75	8.2e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140752

SMART Domains

Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	2	78	7.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127435

SMART Domains

Protein: ENSMUSP00000119373
Gene: ENSMUSG00000046110

Domain	Start	End	E-Value	Type
Pfam:Serinc	2	192	7.7e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139253

SMART Domains

Protein: ENSMUSP00000123181
Gene: ENSMUSG00000074884

Domain	Start	End	E-Value	Type
Pfam:4F5	1	38	1e-14	PFAM
low complexity region	45	59	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bsn	A	G	9: 107,992,521 (GRCm39)	I1077T	probably damaging	Het
Car8	A	G	4: 8,183,251 (GRCm39)		probably null	Het
Ccdc192	A	T	18: 57,727,158 (GRCm39)	E136V	probably damaging	Het
Ccny	A	T	18: 9,345,444 (GRCm39)	D143E	probably benign	Het
Cdh19	A	G	1: 110,876,874 (GRCm39)	V155A	probably damaging	Het
Cript	T	A	17: 87,335,151 (GRCm39)	I14N	probably damaging	Het
Crygd	C	T	1: 65,101,250 (GRCm39)	R115Q	probably benign	Het
Cyria	A	T	12: 12,409,235 (GRCm39)	I72F	probably benign	Het
Eef1b2	G	A	1: 63,217,665 (GRCm39)	G91R	probably damaging	Het
Fbln5	A	G	12: 101,776,175 (GRCm39)	V60A	probably damaging	Het
Fbn1	T	A	2: 125,245,139 (GRCm39)	E249D	possibly damaging	Het
G6pc1	G	T	11: 101,261,549 (GRCm39)	R83L	probably damaging	Het
Grik2	A	G	10: 49,232,024 (GRCm39)	V502A	possibly damaging	Het
Heatr1	T	C	13: 12,450,009 (GRCm39)	V2001A	probably benign	Het
Il4i1	T	A	7: 44,487,470 (GRCm39)	Y148*	probably null	Het
Jmjd4	T	C	11: 59,341,569 (GRCm39)	S113P	probably benign	Het
Nceh1	C	T	3: 27,295,462 (GRCm39)	P241L	probably damaging	Het
Pals1	A	G	12: 78,856,595 (GRCm39)	D146G	probably damaging	Het
Pcdh10	T	A	3: 45,334,737 (GRCm39)	D350E	probably damaging	Het
Pdgfrl	A	G	8: 41,438,571 (GRCm39)	E169G	probably damaging	Het
Ppm1l	T	A	3: 69,225,283 (GRCm39)	D128E	probably damaging	Het
Rasa1	A	G	13: 85,436,548 (GRCm39)	V160A	probably benign	Het
Slitrk1	T	A	14: 109,149,269 (GRCm39)	N481Y	probably damaging	Het
Tas2r139	T	G	6: 42,118,055 (GRCm39)	S62R	probably damaging	Het
Tdpoz4	A	T	3: 93,704,380 (GRCm39)	T226S	probably benign	Het
Tvp23b	C	A	11: 62,774,464 (GRCm39)	A36E	probably damaging	Het
Upp2	G	A	2: 58,680,076 (GRCm39)	E301K	probably benign	Het

Other mutations in Serf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0615:Serf2	UTSW	2	121,281,336 (GRCm39)	missense	probably benign	0.18
R5117:Serf2	UTSW	2	121,281,184 (GRCm39)	missense	possibly damaging	0.93
R7547:Serf2	UTSW	2	121,281,256 (GRCm39)	missense	possibly damaging	0.53
R9482:Serf2	UTSW	2	121,281,206 (GRCm39)	missense	possibly damaging	0.95
R9482:Serf2	UTSW	2	121,281,205 (GRCm39)	missense	possibly damaging	0.95

Posted On

2012-12-06