Mutagenetix > Incidental Mutation

Incidental Mutation 'R9482:Serf2'

716289

Institutional Source

Beutler Lab

Gene Symbol

Serf2

Ensembl Gene

ENSMUSG00000074884

Gene Name

small EDRK-rich factor 2

Synonyms

m4F5rel, 4F5rel (4F5 related)

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9482 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

121279679-121283901 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 121281205 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 40 (D40E)

Ref Sequence

ENSEMBL: ENSMUSP00000123181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056312] [ENSMUST00000099475] [ENSMUST00000110612] [ENSMUST00000110613] [ENSMUST00000110615] [ENSMUST00000139253] [ENSMUST00000148575] [ENSMUST00000154418]

AlphaFold

P84102

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

possibly damaging
Transcript: ENSMUST00000099475
AA Change: T48N

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000097074
Gene: ENSMUSG00000074884
AA Change: T48N

Domain	Start	End	E-Value	Type
Pfam:4F5	1	38	3.1e-14	PFAM
low complexity region	49	68	N/A	INTRINSIC

Predicted Effect

probably benign
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

probably benign
Transcript: ENSMUST00000110615

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

possibly damaging
Transcript: ENSMUST00000139253
AA Change: D40E

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123181
Gene: ENSMUSG00000074884
AA Change: D40E

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

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: ENSMUST00000148575

SMART Domains

Protein: ENSMUSP00000121895
Gene: ENSMUSG00000074884

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154418

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,307,423 (GRCm39)	V793A	probably benign	Het
Als2	G	T	1: 59,231,109 (GRCm39)	P834Q	probably damaging	Het
Alx1	T	C	10: 102,864,335 (GRCm39)	T45A	probably benign	Het
Angptl7	T	G	4: 148,584,575 (GRCm39)	S58R	possibly damaging	Het
Atg3	A	G	16: 44,979,481 (GRCm39)	T7A	probably benign	Het
Bpifc	A	T	10: 85,815,118 (GRCm39)	S283T	possibly damaging	Het
C2cd2l	T	A	9: 44,227,914 (GRCm39)	E231V	probably damaging	Het
Cdk5r2	T	C	1: 74,894,504 (GRCm39)	V83A	probably damaging	Het
Chst10	T	C	1: 38,907,116 (GRCm39)	E178G	probably damaging	Het
Crocc2	T	A	1: 93,143,106 (GRCm39)	L1236Q	probably benign	Het
Dleu7	T	C	14: 62,514,351 (GRCm39)	*210W	probably null	Het
Emc1	T	G	4: 139,088,201 (GRCm39)	V323G	probably damaging	Het
Fcrla	T	C	1: 170,745,949 (GRCm39)	T278A	probably benign	Het
Flrt3	T	C	2: 140,503,590 (GRCm39)	T13A	probably benign	Het
Galntl6	A	T	8: 58,310,549 (GRCm39)		probably null	Het
Gen1	A	G	12: 11,305,186 (GRCm39)	V203A	possibly damaging	Het
Gm3149	T	A	14: 15,698,287 (GRCm39)	V169E	probably benign	Het
Hjurp	CTCCTCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCA	C	1: 88,193,996 (GRCm39)		probably benign	Het
Hmcn1	A	G	1: 150,610,281 (GRCm39)	S1463P	probably benign	Het
Irag1	A	T	7: 110,545,259 (GRCm39)	D12E	probably benign	Het
Jsrp1	A	T	10: 80,644,734 (GRCm39)	I224N	possibly damaging	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Kcnma1	A	T	14: 23,441,033 (GRCm39)	M591K	probably benign	Het
Kmt2d	A	C	15: 98,763,046 (GRCm39)	W268G	probably damaging	Het
Knop1	A	G	7: 118,447,710 (GRCm39)	S417P	unknown	Het
Lpin3	T	C	2: 160,746,416 (GRCm39)	F692L	probably damaging	Het
Mycbp	T	C	4: 123,803,880 (GRCm39)	C130R	unknown	Het
Myh1	T	C	11: 67,108,745 (GRCm39)	I1387T	probably damaging	Het
Nbeal2	T	C	9: 110,463,066 (GRCm39)	D1333G	probably benign	Het
Nedd4l	G	T	18: 65,021,031 (GRCm39)		probably benign	Het
Nucks1	A	G	1: 131,846,744 (GRCm39)	N7D	probably benign	Het
Nup210	A	G	6: 91,019,608 (GRCm39)	I991T	probably damaging	Het
Or4a72	C	T	2: 89,405,953 (GRCm39)	G39D	probably damaging	Het
Pcdhb3	A	G	18: 37,434,736 (GRCm39)	D234G	probably damaging	Het
Phyh	C	T	2: 4,923,863 (GRCm39)		probably benign	Het
Pik3c2a	G	A	7: 115,961,289 (GRCm39)	T1070I	probably benign	Het
Prss52	C	T	14: 64,351,129 (GRCm39)	L305F	probably damaging	Het
Rasef	T	C	4: 73,708,933 (GRCm39)	D100G	probably benign	Het
Rb1	A	C	14: 73,443,493 (GRCm39)	M754R	probably damaging	Het
Rbm6	T	C	9: 107,669,208 (GRCm39)	Q568R	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sh2b1	AGCTC	AGCTCAGCCACGGGGACCCGCTC	7: 126,066,768 (GRCm39)		probably benign	Het
Sympk	G	T	7: 18,771,986 (GRCm39)	R350L	possibly damaging	Het
Tab2	C	A	10: 7,795,124 (GRCm39)	V379L	probably damaging	Het
Tnk1	T	G	11: 69,743,666 (GRCm39)	T485P	probably benign	Het
Trmt6	T	C	2: 132,648,699 (GRCm39)	T412A	probably benign	Het
Vgll3	A	G	16: 65,636,229 (GRCm39)	T182A	probably benign	Het
Zfat	A	G	15: 68,084,652 (GRCm39)	S80P	probably damaging	Het
Zfp1004	C	A	2: 150,034,711 (GRCm39)	T344K	probably benign	Het
Zfyve26	A	G	12: 79,291,239 (GRCm39)	L2122S	probably damaging	Het

Other mutations in Serf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00863:Serf2	APN	2	121,288,184 (GRCm39)	critical splice donor site	probably null
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

Predicted Primers

PCR Primer
(F):5'- TTAGTACAGAATAGAGAGCCTTGGG -3'
(R):5'- CAAAGGGAATGCCATCGGTG -3'

Sequencing Primer
(F):5'- CAGCCATATGGAGACTGATTGATTGC -3'
(R):5'- AATGCCATCGGTGCTGGG -3'

Posted On

2022-07-18