Mutagenetix > Incidental Mutation

Incidental Mutation 'R5849:Stbd1'

453764

Institutional Source

Beutler Lab

Gene Symbol

Stbd1

Ensembl Gene

ENSMUSG00000047963

Gene Name

starch binding domain 1

Synonyms

D530019K15Rik, D5Ertd593e

MMRRC Submission

044066-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5849 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

92603041-92606579 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 92604995 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 115 (F115V)

Ref Sequence

ENSEMBL: ENSMUSP00000054322 (fasta)

Gene Model

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

AlphaFold

Q8C7E7

Predicted Effect

probably benign
Transcript: ENSMUST00000050952
AA Change: F115V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000054322
Gene: ENSMUSG00000047963
AA Change: F115V

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

probably benign
Transcript: ENSMUST00000200941

SMART Domains

Protein: ENSMUSP00000144305
Gene: ENSMUSG00000047963

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

Predicted Effect

probably benign
Transcript: ENSMUST00000202332

SMART Domains

Protein: ENSMUSP00000144467
Gene: ENSMUSG00000047963

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.3%

Validation Efficiency

96% (72/75)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	A	G	13: 63,015,498	D111G	probably benign	Het
4930553M12Rik	T	C	4: 88,868,359	I7M	unknown	Het
Abca8b	C	A	11: 109,977,813	G175V	probably damaging	Het
Agbl1	T	C	7: 76,325,098	S113P	probably benign	Het
Ak9	A	G	10: 41,348,049	D486G	probably benign	Het
Arhgap11a	T	C	2: 113,834,847	S469G	probably null	Het
Ccdc144b	A	T	3: 36,032,877	D189E	possibly damaging	Het
Comtd1	C	T	14: 21,848,120	G48D	probably damaging	Het
Cyp27a1	T	C	1: 74,736,684	S343P	probably damaging	Het
Dcun1d1	T	A	3: 35,916,184		probably benign	Het
Dennd4c	T	C	4: 86,825,986	I1404T	possibly damaging	Het
Dlgap5	A	G	14: 47,389,435	S766P	possibly damaging	Het
Ebf1	T	A	11: 44,990,504		probably null	Het
Flcn	T	A	11: 59,804,760	I4L	probably damaging	Het
Grin2c	T	C	11: 115,260,991	T48A	probably benign	Het
Hyal5	T	A	6: 24,891,556	S456R	probably benign	Het
Igf1r	A	G	7: 68,190,033	D696G	probably benign	Het
Iqgap1	A	T	7: 80,803,158	V13D	probably benign	Het
Itgal	A	G	7: 127,317,320	N728S	probably benign	Het
Kcnb1	T	A	2: 167,106,026	I301F	probably damaging	Het
Kcnd3	A	G	3: 105,458,795		probably benign	Het
Kdm4a	C	T	4: 118,161,840	R393Q	probably benign	Het
Lcn9	G	A	2: 25,823,256		probably null	Het
Madcam1	T	A	10: 79,664,990	M47K	probably benign	Het
Matn3	A	G	12: 8,958,829	Q314R	probably benign	Het
Msh3	A	T	13: 92,249,878	D826E	possibly damaging	Het
Muc4	A	T	16: 32,774,839	T3088S	possibly damaging	Het
Mup3	T	G	4: 62,086,935		probably null	Het
Myo15b	A	G	11: 115,881,933	K1807E	probably damaging	Het
Myrip	A	G	9: 120,453,693	D688G	probably damaging	Het
Nup153	A	G	13: 46,686,976	F1052S	probably damaging	Het
Olfr1013	A	T	2: 85,770,424	I208F	probably benign	Het
Olfr1316	A	T	2: 112,129,878	I311K	probably benign	Het
Olfr1336	A	T	7: 6,460,994	I162F	possibly damaging	Het
Olfr584	T	A	7: 103,085,521	M1K	probably null	Het
Oplah	T	A	15: 76,297,347		probably benign	Het
Pacsin2	A	G	15: 83,390,518	F120L	possibly damaging	Het
Ppp1r36	C	A	12: 76,439,157	P363Q	probably damaging	Het
Rai1	C	A	11: 60,190,521	H1804N	possibly damaging	Het
Rictor	G	A	15: 6,794,006	E1555K	probably benign	Het
Rnf214	G	A	9: 45,868,088	P455S	probably damaging	Het
Rnf220	T	C	4: 117,277,612	T188A	possibly damaging	Het
S1pr4	C	T	10: 81,499,323	V106M	possibly damaging	Het
Sall2	C	A	14: 52,314,247	S495I	probably benign	Het
Sars2	A	G	7: 28,744,258	E95G	possibly damaging	Het
Sema3f	G	A	9: 107,682,616	T693M	probably damaging	Het
Slfn2	C	A	11: 83,069,576	T127K	probably benign	Het
Snrpe	T	A	1: 133,608,914	I43L	probably benign	Het
Srsf1	T	C	11: 88,047,858	I7T	possibly damaging	Het
Ssbp1	T	A	6: 40,476,903		probably benign	Het
Stk11ip	T	A	1: 75,527,355		probably null	Het
Taf1b	T	A	12: 24,500,525	N36K	probably damaging	Het
Tanc1	A	T	2: 59,799,904	M743L	probably benign	Het
Tnfsf12	C	A	11: 69,686,967	R208L	probably damaging	Het
Trafd1	T	C	5: 121,373,471	D428G	probably damaging	Het
Trim24	A	G	6: 37,957,729	E793G	probably damaging	Het
Tspan32	T	C	7: 143,015,587	C100R	probably damaging	Het
Ttn	T	C	2: 76,746,242	D16442G	probably damaging	Het
Ube3c	T	A	5: 29,658,409	L894Q	probably damaging	Het
Wfs1	C	G	5: 36,973,264	G213R	probably damaging	Het
Zfp384	G	A	6: 125,024,099	A45T	possibly damaging	Het
Zfp865	G	T	7: 5,031,087	K690N	probably damaging	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
R2936:Stbd1	UTSW	5	92603260	missense	possibly damaging	0.93
R4107:Stbd1	UTSW	5	92605280	missense	probably benign	0.00
R7011:Stbd1	UTSW	5	92605118	nonsense	probably null
R7747:Stbd1	UTSW	5	92605557	missense	probably damaging	1.00
R9260:Stbd1	UTSW	5	92605597	missense	probably damaging	1.00
R9356:Stbd1	UTSW	5	92605418	missense	possibly damaging	0.46
Z1177:Stbd1	UTSW	5	92603055	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GCAAAAGTTTTCTGCGTCTTCC -3'
(R):5'- AGTGCCTAGACACCACTTCC -3'

Sequencing Primer
(F):5'- CTTTGTGAACCACCTAATGTTACTG -3'
(R):5'- TTAGCTCTGTCCACAAGCAGG -3'

Posted On

2017-02-10