Mutagenetix > Incidental Mutation

Incidental Mutation 'R3422:Saysd1'

267093

Institutional Source

Beutler Lab

Gene Symbol

Saysd1

Ensembl Gene

ENSMUSG00000045107

Gene Name

SAYSVFN motif domain containing 1

Synonyms

4930488P03Rik, 1810063B07Rik

MMRRC Submission

040640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R3422 (G1)

Quality Score

165

Status

Validated

Chromosome

Chromosomal Location

20125704-20133240 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20132994 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 54 (K54N)

Ref Sequence

ENSEMBL: ENSMUSP00000055382 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059666]

AlphaFold

Q8K190

Predicted Effect

probably benign
Transcript: ENSMUST00000059666
AA Change: K54N

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

SMART Domains

Protein: ENSMUSP00000055382
Gene: ENSMUSG00000045107
AA Change: K54N

Domain	Start	End	E-Value	Type
low complexity region	22	31	N/A	INTRINSIC
low complexity region	33	46	N/A	INTRINSIC
low complexity region	57	75	N/A	INTRINSIC
Pfam:SAYSvFN	100	170	8e-33	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226090

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 94.7%

Validation Efficiency

100% (40/40)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl3	A	G	6: 34,770,900 (GRCm39)	T132A	probably benign	Het
Ahnak	A	G	19: 8,983,072 (GRCm39)	D1452G	probably benign	Het
Ahnak	A	G	19: 8,984,116 (GRCm39)	D1800G	probably benign	Het
Atp7b	C	T	8: 22,518,686 (GRCm39)	D51N	probably damaging	Het
Brca2	A	G	5: 150,466,586 (GRCm39)	T2117A	possibly damaging	Het
Ccdc73	A	T	2: 104,782,292 (GRCm39)	K216M	probably null	Het
Ccdc73	G	A	2: 104,782,293 (GRCm39)		probably null	Het
Ckap5	T	A	2: 91,400,597 (GRCm39)	W650R	probably damaging	Het
D930048N14Rik	T	C	11: 51,545,785 (GRCm39)	*226R	probably null	Het
Grin1	C	T	2: 25,193,926 (GRCm39)	G390D	probably damaging	Het
Ifit1bl1	T	G	19: 34,571,350 (GRCm39)	N369T	probably benign	Het
Kcnip1	A	G	11: 33,595,594 (GRCm39)	V43A	probably damaging	Het
Kifap3	T	A	1: 163,621,595 (GRCm39)	I81N	probably damaging	Het
Me2	C	T	18: 73,924,265 (GRCm39)	A316T	probably damaging	Het
Mgat4d	T	C	8: 84,084,772 (GRCm39)	S172P	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Nmt2	A	G	2: 3,285,425 (GRCm39)	E31G	possibly damaging	Het
Nuak2	A	G	1: 132,259,818 (GRCm39)	D532G	probably benign	Het
Nwd2	G	T	5: 63,882,536 (GRCm39)	V63L	possibly damaging	Het
Odad2	T	C	18: 7,223,523 (GRCm39)		probably benign	Het
Or1e1	A	G	11: 73,245,460 (GRCm39)	N294D	probably damaging	Het
Or4k15b	T	C	14: 50,271,997 (GRCm39)	T288A	possibly damaging	Het
Otub1	C	T	19: 7,176,424 (GRCm39)	D237N	probably damaging	Het
Pik3cg	A	T	12: 32,254,738 (GRCm39)	F416L	probably damaging	Het
Psmb2	T	C	4: 126,571,630 (GRCm39)	M28T	probably damaging	Het
Slc5a4a	T	C	10: 76,012,407 (GRCm39)	V359A	probably benign	Het
Slc7a3	T	A	X: 100,124,481 (GRCm39)		probably benign	Het
Soat2	T	C	15: 102,065,244 (GRCm39)		probably benign	Het
Spink5	A	G	18: 44,143,311 (GRCm39)	K756R	probably benign	Het
Tafa1	C	A	6: 96,626,099 (GRCm39)	D112E	probably damaging	Het
Tlr4	A	G	4: 66,757,773 (GRCm39)	I189V	probably benign	Het
Vsig2	G	A	9: 37,452,775 (GRCm39)	V195I	possibly damaging	Het
Zfp217	A	G	2: 169,961,937 (GRCm39)	F130S	possibly damaging	Het
Zfp91	G	A	19: 12,747,656 (GRCm39)	A489V	probably benign	Het

Other mutations in Saysd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1809:Saysd1	UTSW	14	20,133,170 (GRCm39)	start gained	probably benign
R3421:Saysd1	UTSW	14	20,132,994 (GRCm39)	missense	probably benign	0.00
R4851:Saysd1	UTSW	14	20,127,672 (GRCm39)	missense	possibly damaging	0.87
R5303:Saysd1	UTSW	14	20,133,026 (GRCm39)	missense	probably benign
R7211:Saysd1	UTSW	14	20,127,576 (GRCm39)	missense	probably damaging	1.00
R8995:Saysd1	UTSW	14	20,133,005 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGCCACGTATCATGTGCTG -3'
(R):5'- AGACGTCACAAAGCCTTGG -3'

Sequencing Primer
(F):5'- AAATGCGGTGTCCAGCCAC -3'
(R):5'- GACGTCACAAAGCCTTGGAAAATTC -3'

Posted On

2015-02-18