Mutagenetix > Incidental Mutation

Incidental Mutation 'R2234:Stambp'

239917

Institutional Source

Beutler Lab

Gene Symbol

Stambp

Ensembl Gene

ENSMUSG00000006906

Gene Name

STAM binding protein

Synonyms

5730422L11Rik, 5330424L14Rik, Amsh

MMRRC Submission

040235-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.812) question?

Stock #

R2234 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83520193-83549711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83528960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 362 (S362P)

Ref Sequence

ENSEMBL: ENSMUSP00000146294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068054] [ENSMUST00000206400] [ENSMUST00000206592]

AlphaFold

Q9CQ26

Predicted Effect

probably damaging
Transcript: ENSMUST00000068054
AA Change: S362P

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

SMART Domains

Protein: ENSMUSP00000070876
Gene: ENSMUSG00000006906
AA Change: S362P

Domain	Start	End	E-Value	Type
Pfam:USP8_dimer	8	117	4.9e-23	PFAM
low complexity region	143	161	N/A	INTRINSIC
low complexity region	189	200	N/A	INTRINSIC
JAB_MPN	256	382	1.81e-11	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205369

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205648

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206215

Predicted Effect

probably damaging
Transcript: ENSMUST00000206400
AA Change: S362P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206592
AA Change: S362P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206792

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cytokine-mediated signal transduction in the JAK-STAT cascade requires the involvement of adaptor molecules. One such signal-transducing adaptor molecule contains an SH3 domain that is required for induction of MYC and cell growth. The protein encoded by this gene binds to the SH3 domain of the signal-transducing adaptor molecule, and plays a critical role in cytokine-mediated signaling for MYC induction and cell cycle progression. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die of starvation at weaning exhibiting postnatal growth retardation, limb-clasping, a hypocellular cerebral cortex, and severe loss of hippocampal CA1 neurons accompanied by apoptosis; one-third of mutant mice display blepharoptosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd6	A	G	1: 155,434,454 (GRCm39)	D24G	probably damaging	Het
Adarb1	A	G	10: 77,153,183 (GRCm39)	V322A	probably damaging	Het
Akap8l	C	T	17: 32,557,777 (GRCm39)	G37R	probably damaging	Het
BC035947	A	T	1: 78,474,599 (GRCm39)	D644E	probably damaging	Het
Capzb	T	A	4: 138,989,334 (GRCm39)	D85E	possibly damaging	Het
Cd81	T	A	7: 142,620,056 (GRCm39)	N71K	probably benign	Het
Cemip	G	T	7: 83,647,770 (GRCm39)	D103E	probably benign	Het
Chfr	A	G	5: 110,318,729 (GRCm39)	K580E	probably damaging	Het
Chrnb1	A	T	11: 69,686,428 (GRCm39)	I64N	probably damaging	Het
Clca3a1	G	T	3: 144,714,829 (GRCm39)	P596Q	possibly damaging	Het
Cpb1	A	T	3: 20,329,629 (GRCm39)	D32E	probably benign	Het
Crh	A	T	3: 19,748,096 (GRCm39)	M182K	probably damaging	Het
Csta1	C	T	16: 35,945,445 (GRCm39)	V23I	probably damaging	Het
Dazap1	A	G	10: 80,113,433 (GRCm39)	K110E	possibly damaging	Het
Dhx16	T	C	17: 36,198,778 (GRCm39)	C737R	probably damaging	Het
Dync1i2	C	T	2: 71,079,764 (GRCm39)	Q419*	probably null	Het
Eml5	A	C	12: 98,807,840 (GRCm39)	D984E	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Gm12695	C	T	4: 96,612,266 (GRCm39)	R499Q	probably damaging	Het
Hid1	A	G	11: 115,241,945 (GRCm39)	I555T	probably damaging	Het
Hspa2	A	G	12: 76,451,419 (GRCm39)	T38A	possibly damaging	Het
Igf1r	T	A	7: 67,861,828 (GRCm39)	N1129K	probably damaging	Het
Iglon5	T	C	7: 43,130,062 (GRCm39)	E34G	probably damaging	Het
Itprid1	A	T	6: 55,874,797 (GRCm39)	H249L	possibly damaging	Het
Kalrn	C	A	16: 33,996,632 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,763,129 (GRCm39)	D240G	probably damaging	Het
Lrrc56	T	A	7: 140,778,207 (GRCm39)	D66E	probably damaging	Het
Myot	A	G	18: 44,487,339 (GRCm39)	D392G	probably damaging	Het
Nphp3	G	A	9: 103,914,575 (GRCm39)	R1052H	probably benign	Het
Obscn	T	C	11: 59,022,472 (GRCm39)	R758G	possibly damaging	Het
Or2d4	C	A	7: 106,543,827 (GRCm39)	C127F	probably damaging	Het
Or4c114	A	G	2: 88,904,592 (GRCm39)	L281P	probably damaging	Het
Or6z5	T	C	7: 6,477,441 (GRCm39)	S111P	possibly damaging	Het
Or7g19	A	T	9: 18,856,112 (GRCm39)	H56L	probably damaging	Het
Or8k39	A	G	2: 86,563,921 (GRCm39)	F12L	possibly damaging	Het
Pax8	A	G	2: 24,333,114 (GRCm39)	I77T	probably damaging	Het
Paxbp1	T	C	16: 90,831,822 (GRCm39)	I355M	probably benign	Het
Pds5a	A	T	5: 65,811,441 (GRCm39)	F331I	probably damaging	Het
Plec	A	T	15: 76,061,147 (GRCm39)	I2952N	probably damaging	Het
Ppp1r12a	A	G	10: 108,034,780 (GRCm39)	I108M	possibly damaging	Het
Rabepk	A	T	2: 34,685,246 (GRCm39)	I58N	possibly damaging	Het
Rnf216	G	A	5: 143,076,681 (GRCm39)	H68Y	probably benign	Het
Scap	T	C	9: 110,210,661 (GRCm39)	C998R	probably damaging	Het
Scgb1b27	T	C	7: 33,721,249 (GRCm39)	Y46H	probably damaging	Het
Sf3a2	G	T	10: 80,638,663 (GRCm39)	A95S	probably benign	Het
Smg7	A	T	1: 152,744,064 (GRCm39)	Y40N	probably damaging	Het
Ssc5d	A	G	7: 4,946,849 (GRCm39)	T1068A	probably benign	Het
Tbx18	G	T	9: 87,606,403 (GRCm39)	S247R	probably damaging	Het
Tenm3	T	C	8: 48,729,204 (GRCm39)	I1601V	probably benign	Het
Thap4	G	T	1: 93,652,934 (GRCm39)	Q441K	probably benign	Het
Tmprss11c	G	T	5: 86,429,945 (GRCm39)	T40K	probably benign	Het
Tnk1	C	T	11: 69,746,017 (GRCm39)		probably null	Het
Trim65	G	T	11: 116,021,503 (GRCm39)	T110K	possibly damaging	Het
Uck1	T	C	2: 32,148,315 (GRCm39)	D167G	probably damaging	Het
Vmn2r124	A	T	17: 18,269,927 (GRCm39)	H61L	possibly damaging	Het
Xpnpep1	T	G	19: 53,001,892 (GRCm39)	D118A	probably damaging	Het
Xylt2	C	T	11: 94,560,822 (GRCm39)	V239M	possibly damaging	Het

Other mutations in Stambp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00491:Stambp	APN	6	83,533,280 (GRCm39)	missense	probably damaging	1.00
IGL00720:Stambp	APN	6	83,547,419 (GRCm39)	missense	probably damaging	1.00
IGL02019:Stambp	APN	6	83,529,013 (GRCm39)	missense	probably damaging	1.00
IGL02328:Stambp	APN	6	83,533,363 (GRCm39)	missense	possibly damaging	0.62
IGL02716:Stambp	APN	6	83,533,372 (GRCm39)	missense	probably damaging	1.00
IGL03069:Stambp	APN	6	83,538,914 (GRCm39)	missense	probably damaging	1.00
denouement	UTSW	6	83,528,954 (GRCm39)	missense	probably damaging	1.00
R0465:Stambp	UTSW	6	83,547,321 (GRCm39)	missense	probably benign	0.38
R0699:Stambp	UTSW	6	83,533,303 (GRCm39)	missense	probably damaging	1.00
R1170:Stambp	UTSW	6	83,540,803 (GRCm39)	critical splice donor site	probably null
R3724:Stambp	UTSW	6	83,534,448 (GRCm39)	missense	probably damaging	1.00
R4415:Stambp	UTSW	6	83,534,464 (GRCm39)	missense	probably damaging	1.00
R4617:Stambp	UTSW	6	83,538,960 (GRCm39)	nonsense	probably null
R4857:Stambp	UTSW	6	83,533,348 (GRCm39)	missense	probably benign	0.00
R5109:Stambp	UTSW	6	83,540,803 (GRCm39)	critical splice donor site	probably null
R5578:Stambp	UTSW	6	83,538,782 (GRCm39)	missense	probably benign	0.00
R7378:Stambp	UTSW	6	83,540,888 (GRCm39)	missense	not run
R7652:Stambp	UTSW	6	83,540,910 (GRCm39)	splice site	probably null
R8353:Stambp	UTSW	6	83,538,881 (GRCm39)	missense	probably damaging	1.00
R8803:Stambp	UTSW	6	83,524,212 (GRCm39)	critical splice donor site	probably null
R9208:Stambp	UTSW	6	83,528,954 (GRCm39)	missense	probably damaging	1.00
R9766:Stambp	UTSW	6	83,534,469 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGGAAGCCTTTTAGAGCAGAC -3'
(R):5'- CTGGCTGCAAATAGCTCTCTAC -3'

Sequencing Primer
(F):5'- GAGATATCTCAGGTCAATCTCTGGC -3'
(R):5'- GCAAATAGCTCTCTACTTGAAGAGG -3'

Posted On

2014-10-15