Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00510:Spryd7'

5870

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spryd7

Ensembl Gene

ENSMUSG00000021930

Gene Name

SPRY domain containing 7

Synonyms

6330409N04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

IGL00510

Quality Score

Status

Chromosome

Chromosomal Location

61769442-61794335 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 61783190 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 111 (N111Y)

Ref Sequence

ENSEMBL: ENSMUSP00000098065 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022497] [ENSMUST00000100496]

AlphaFold

Q3TFQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000022497
AA Change: N111Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022497
Gene: ENSMUSG00000021930
AA Change: N111Y

Domain	Start	End	E-Value	Type
SPRY	62	176	4.39e-25	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000100496
AA Change: N111Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000098065
Gene: ENSMUSG00000021930
AA Change: N111Y

Domain	Start	End	E-Value	Type
Pfam:SPRY	62	144	1.1e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226286

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 137,995,668 (GRCm39)	N357S	probably damaging	Het
Akap4	A	G	X: 6,942,863 (GRCm39)	T389A	probably damaging	Het
Aldh3a1	A	G	11: 61,104,422 (GRCm39)	E103G	probably damaging	Het
Aldh3b3	C	A	19: 4,015,863 (GRCm39)	Q278K	probably benign	Het
Ap3m2	A	T	8: 23,287,243 (GRCm39)		probably null	Het
Asxl3	G	T	18: 22,656,622 (GRCm39)	C1544F	probably damaging	Het
Chd7	A	G	4: 8,801,404 (GRCm39)	D716G	probably damaging	Het
Dennd1b	G	T	1: 139,029,809 (GRCm39)	R322L	probably damaging	Het
Dnah7a	C	T	1: 53,540,701 (GRCm39)	V2558M	probably damaging	Het
Fbp2	T	C	13: 62,989,698 (GRCm39)	I203V	possibly damaging	Het
Gnai1	T	A	5: 18,496,617 (GRCm39)	D102V	probably benign	Het
Gtf2h1	C	T	7: 46,468,634 (GRCm39)	T524I	possibly damaging	Het
Hinfp	G	A	9: 44,209,063 (GRCm39)	R352C	probably damaging	Het
Lpin1	G	A	12: 16,603,993 (GRCm39)	H613Y	probably benign	Het
Med29	C	T	7: 28,090,266 (GRCm39)	A110T	possibly damaging	Het
Myo9a	T	C	9: 59,739,464 (GRCm39)		probably benign	Het
Nlgn1	G	T	3: 25,490,654 (GRCm39)	P329T	probably benign	Het
Osmr	G	T	15: 6,853,112 (GRCm39)	Y593*	probably null	Het
Otx2	T	C	14: 48,896,192 (GRCm39)	T289A	probably benign	Het
Pkn2	T	C	3: 142,504,780 (GRCm39)	T799A	probably damaging	Het
Plcb1	T	A	2: 135,093,676 (GRCm39)	V163D	possibly damaging	Het
Rgs3	G	A	4: 62,619,417 (GRCm39)	A501T	possibly damaging	Het
Rnf103	T	C	6: 71,486,733 (GRCm39)	S455P	probably damaging	Het
Slc9c1	A	G	16: 45,360,002 (GRCm39)	T19A	probably benign	Het
Sp110	A	C	1: 85,505,050 (GRCm39)	F434C	probably benign	Het
Zfp687	A	G	3: 94,915,758 (GRCm39)	S1005P	probably damaging	Het

Other mutations in Spryd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1770:Spryd7	UTSW	14	61,777,654 (GRCm39)	missense	probably damaging	0.99
R7606:Spryd7	UTSW	14	61,777,607 (GRCm39)	missense	possibly damaging	0.89
R7821:Spryd7	UTSW	14	61,783,129 (GRCm39)	critical splice donor site	probably null
R9566:Spryd7	UTSW	14	61,777,639 (GRCm39)	missense	probably benign	0.03
R9601:Spryd7	UTSW	14	61,783,228 (GRCm39)	missense	probably benign	0.30

Posted On

2012-04-20