Mutagenetix > Incidental Mutation

Incidental Mutation 'R9356:Stbd1'

708405

Institutional Source

Beutler Lab

Gene Symbol

Stbd1

Ensembl Gene

ENSMUSG00000047963

Gene Name

starch binding domain 1

Synonyms

D5Ertd593e, D530019K15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92750910-92754438 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92753277 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 256 (T256A)

Ref Sequence

ENSEMBL: ENSMUSP00000054322 (fasta)

Gene Model

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

AlphaFold

Q8C7E7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050952
AA Change: T256A

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000054322
Gene: ENSMUSG00000047963
AA Change: T256A

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

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,206,305 (GRCm39)	V202M	probably benign	Het
Ago3	A	T	4: 126,264,144 (GRCm39)	I354N	probably damaging	Het
Ankrd50	A	T	3: 38,510,236 (GRCm39)	D710E	probably damaging	Het
Apba2	A	T	7: 64,345,421 (GRCm39)	N204Y	probably damaging	Het
Arrdc4	A	G	7: 68,394,627 (GRCm39)	V139A	possibly damaging	Het
Baz1b	A	G	5: 135,239,653 (GRCm39)	E251G	probably benign	Het
Calcr	T	C	6: 3,687,408 (GRCm39)	D530G	probably benign	Het
Chrna7	A	T	7: 62,757,437 (GRCm39)	V154E	probably damaging	Het
Cldn15	T	C	5: 136,996,968 (GRCm39)	V3A	probably benign	Het
Csmd1	A	T	8: 16,252,069 (GRCm39)	L929Q	probably damaging	Het
Ctss	A	C	3: 95,454,120 (GRCm39)	H224P	possibly damaging	Het
Cyp4a12a	C	A	4: 115,185,915 (GRCm39)	H408N	probably benign	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Gpr162	T	C	6: 124,838,297 (GRCm39)	M118V	possibly damaging	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Igfn1	A	T	1: 135,899,825 (GRCm39)	C495*	probably null	Het
Ints9	T	C	14: 65,269,770 (GRCm39)	S487P	probably benign	Het
Jmjd4	T	A	11: 59,345,761 (GRCm39)	D280E	probably benign	Het
Krtap1-4	G	A	11: 99,474,169 (GRCm39)	Q96*	probably null	Het
Ksr2	T	A	5: 117,827,706 (GRCm39)	I495N	probably benign	Het
Lama2	T	A	10: 27,088,186 (GRCm39)	N864Y	probably damaging	Het
Lce1f	TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT	TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT	3: 92,626,272 (GRCm39)		probably benign	Het
Lig4	A	G	8: 10,022,538 (GRCm39)	V414A	possibly damaging	Het
Lman2l	A	G	1: 36,467,415 (GRCm39)	F211S	probably damaging	Het
Lmtk3	A	G	7: 45,443,312 (GRCm39)	E665G	probably damaging	Het
Mdm4	G	A	1: 132,938,837 (GRCm39)	L86F	probably damaging	Het
Mfsd10	C	A	5: 34,794,048 (GRCm39)	E22*	probably null	Het
Mindy1	C	T	3: 95,202,590 (GRCm39)	L394F	probably benign	Het
Mroh4	T	C	15: 74,482,760 (GRCm39)	M735V	probably benign	Het
Myo7a	T	A	7: 97,725,873 (GRCm39)	M1060L	probably benign	Het
Myo7b	C	A	18: 32,110,096 (GRCm39)	S1122I	probably damaging	Het
Nudt17	T	A	3: 96,613,688 (GRCm39)	R313S	probably damaging	Het
Or52n5	A	G	7: 104,588,373 (GRCm39)	I213M	probably benign	Het
Or5w15	T	A	2: 87,568,089 (GRCm39)	Q193L	probably benign	Het
Or6c65	T	G	10: 129,604,035 (GRCm39)	I223M	possibly damaging	Het
Or8h7	T	A	2: 86,720,605 (GRCm39)	M305L	probably benign	Het
Otogl	T	C	10: 107,617,890 (GRCm39)	Y1741C	probably damaging	Het
Pja2	A	G	17: 64,618,204 (GRCm39)	V65A	probably damaging	Het
Primpol	A	G	8: 47,043,318 (GRCm39)	V325A	probably benign	Het
Prss36	T	C	7: 127,545,697 (GRCm39)		probably benign	Het
Ptpn20	T	G	14: 33,352,865 (GRCm39)	Y201*	probably null	Het
Rundc3a	T	C	11: 102,292,890 (GRCm39)	S428P	probably damaging	Het
Rxra	T	A	2: 27,649,675 (GRCm39)	L460Q	probably damaging	Het
Sdsl	C	T	5: 120,597,948 (GRCm39)	V182M	probably damaging	Het
Slc14a2	A	C	18: 78,227,823 (GRCm39)	I226S	probably null	Het
Spam1	T	A	6: 24,800,565 (GRCm39)	C435S	probably damaging	Het
Spata31h1	T	C	10: 82,125,157 (GRCm39)	K2618E	possibly damaging	Het
Ttc39c	T	A	18: 12,853,102 (GRCm39)		probably null	Het
Uba3	T	C	6: 97,161,811 (GRCm39)	D440G	probably benign	Het
Ythdf1	A	C	2: 180,553,998 (GRCm39)	S72R	probably benign	Het
Zfp770	T	C	2: 114,026,917 (GRCm39)	E384G	possibly damaging	Het
Zfp979	G	T	4: 147,698,358 (GRCm39)	T117K	probably damaging	Het

Other mutations in Stbd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02718:Stbd1	APN	5	92,751,077 (GRCm39)	missense	possibly damaging	0.72
R0830:Stbd1	UTSW	5	92,752,989 (GRCm39)	missense	probably benign	0.00
R1168:Stbd1	UTSW	5	92,752,795 (GRCm39)	missense	probably benign	0.19
R2936:Stbd1	UTSW	5	92,751,119 (GRCm39)	missense	possibly damaging	0.93
R4107:Stbd1	UTSW	5	92,753,139 (GRCm39)	missense	probably benign	0.00
R5849:Stbd1	UTSW	5	92,752,854 (GRCm39)	missense	probably benign	0.00
R7011:Stbd1	UTSW	5	92,752,977 (GRCm39)	nonsense	probably null
R7747:Stbd1	UTSW	5	92,753,416 (GRCm39)	missense	probably damaging	1.00
R9260:Stbd1	UTSW	5	92,753,456 (GRCm39)	missense	probably damaging	1.00
Z1177:Stbd1	UTSW	5	92,750,914 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- GTGTCTAGGCACTCATCTTGGG -3'
(R):5'- GCCAGTCTGCAGGAATCTATTG -3'

Sequencing Primer
(F):5'- CACTCATCTTGGGGGAGTG -3'
(R):5'- GCTGCATTCTTCCCAACGAGTAAC -3'

Posted On

2022-04-18