Mutagenetix > Incidental Mutations

Incidental Mutation 'R2936:Stbd1'

255021

Institutional Source

Beutler Lab

Gene Symbol

Stbd1

Ensembl Gene

ENSMUSG00000047963

Gene Name

starch binding domain 1

Synonyms

D530019K15Rik, D5Ertd593e

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2936 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92603041-92606579 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 92603260 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 51 (P51L)

Ref Sequence

ENSEMBL: ENSMUSP00000054322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050952] [ENSMUST00000060930] [ENSMUST00000200941] [ENSMUST00000202332]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050952
AA Change: P51L

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000054322
Gene: ENSMUSG00000047963
AA Change: P51L

Domain	Start	End	E-Value	Type
transmembrane domain	2	24	N/A	INTRINSIC
low complexity region	36	68	N/A	INTRINSIC
low complexity region	195	206	N/A	INTRINSIC
CBM_2	243	334	2.81e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000060930

SMART Domains

Protein: ENSMUSP00000063050
Gene: ENSMUSG00000050050

Domain	Start	End	E-Value	Type
Pfam:CCDC158	1	1109	N/A	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136004

Predicted Effect

unknown
Transcript: ENSMUST00000200941
AA Change: P51L

SMART Domains

Protein: ENSMUSP00000144305
Gene: ENSMUSG00000047963
AA Change: P51L

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	36	68	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000202332
AA Change: P51L

SMART Domains

Protein: ENSMUSP00000144467
Gene: ENSMUSG00000047963
AA Change: P51L

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	36	68	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,468,448	M121K	probably damaging	Het
Cacybp	A	T	1: 160,208,377		probably null	Het
Cd6	T	C	19: 10,796,322		probably null	Het
Cep162	T	C	9: 87,227,414	T379A	probably benign	Het
Gaa	T	C	11: 119,283,724	V799A	probably benign	Het
Gm16503	A	G	4: 147,541,247	D66G	unknown	Het
Hspa9	T	C	18: 34,948,014	T205A	probably damaging	Het
Ihh	A	G	1: 74,946,546	I260T	probably damaging	Het
Jcad	T	A	18: 4,675,153	Y972N	probably benign	Het
Magi2	A	AG	5: 20,602,461		probably null	Het
Mmp12	A	G	9: 7,357,819	Q341R	probably benign	Het
Nup155	T	C	15: 8,143,049	S840P	possibly damaging	Het
Olfr724	A	T	14: 49,960,154	V306E	probably benign	Het
Papd7	G	A	13: 69,502,327	T621I	possibly damaging	Het
Pde4b	C	T	4: 102,601,545	A466V	probably damaging	Het
Pde5a	A	G	3: 122,794,319	E378G	probably damaging	Het
Rad54l	T	C	4: 116,122,879		probably benign	Het
Tnfaip3	A	G	10: 19,011,609	F56S	probably damaging	Het
Tnr	A	C	1: 159,888,362	Y898S	probably damaging	Het
Trav6n-6	A	G	14: 53,132,884	T31A	probably benign	Het

Other mutations in Stbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02718:Stbd1	APN	5	92603218	missense	possibly damaging	0.72
R0830:Stbd1	UTSW	5	92605130	missense	probably benign	0.00
R1168:Stbd1	UTSW	5	92604936	missense	probably benign	0.19
R4107:Stbd1	UTSW	5	92605280	missense	probably benign	0.00
R5849:Stbd1	UTSW	5	92604995	missense	probably benign	0.00
R7011:Stbd1	UTSW	5	92605118	nonsense	probably null
R7747:Stbd1	UTSW	5	92605557	missense	probably damaging	1.00
Z1177:Stbd1	UTSW	5	92603055	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCGGCCAAGAACCTTAAAAG -3'
(R):5'- TCGTACACTGCTCCAAGTG -3'

Sequencing Primer
(F):5'- ACTGGGGCTCGTAGTCTC -3'
(R):5'- AAGGTTCAGTCCGAGGTCG -3'

Posted On

2014-12-29