Mutagenetix > Incidental Mutation

Incidental Mutation 'R4617:Stambp'

351111

Institutional Source

Beutler Lab

Gene Symbol

Stambp

Ensembl Gene

ENSMUSG00000006906

Gene Name

STAM binding protein

Synonyms

5730422L11Rik, 5330424L14Rik, Amsh

MMRRC Submission

041828-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.812) question?

Stock #

R4617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

83520193-83549711 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 83538960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 147 (Q147*)

Ref Sequence

ENSEMBL: ENSMUSP00000146294 (fasta)

Gene Model

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

AlphaFold

Q9CQ26

Predicted Effect

probably null
Transcript: ENSMUST00000068054
AA Change: Q147*

SMART Domains

Protein: ENSMUSP00000070876
Gene: ENSMUSG00000006906
AA Change: Q147*

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: ENSMUST00000205648

Predicted Effect

probably null
Transcript: ENSMUST00000206400
AA Change: Q147*

Predicted Effect

probably null
Transcript: ENSMUST00000206592
AA Change: Q147*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (66/69)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,369,493 (GRCm39)	I363V	probably benign	Het
Acaa1a	T	A	9: 119,178,006 (GRCm39)	S279R	probably damaging	Het
Akr1cl	A	G	1: 65,060,550 (GRCm39)	C156R	probably damaging	Het
Arhgap11a	G	A	2: 113,664,423 (GRCm39)	T620M	probably benign	Het
Brinp1	A	G	4: 68,681,198 (GRCm39)	I444T	possibly damaging	Het
Ccdc150	A	G	1: 54,394,913 (GRCm39)	I760V	probably benign	Het
Cdh26	G	A	2: 178,102,435 (GRCm39)		probably benign	Het
Cpd	A	G	11: 76,731,441 (GRCm39)	L255P	probably damaging	Het
Cyfip2	A	G	11: 46,144,845 (GRCm39)	Y670H	probably damaging	Het
Disp2	G	A	2: 118,620,643 (GRCm39)	M458I	probably benign	Het
Dot1l	T	C	10: 80,620,918 (GRCm39)	I563T	probably damaging	Het
Egf	A	T	3: 129,484,442 (GRCm39)	S1001T	probably benign	Het
Elfn1	A	G	5: 139,957,764 (GRCm39)	Y256C	probably damaging	Het
Exoc4	C	T	6: 33,839,139 (GRCm39)	T725I	probably benign	Het
Fam168b	A	G	1: 34,859,063 (GRCm39)	V72A	possibly damaging	Het
Fbxw20	C	T	9: 109,046,631 (GRCm39)	S443N	probably damaging	Het
Flacc1	A	T	1: 58,700,601 (GRCm39)	D301E	probably benign	Het
Flrt2	T	C	12: 95,747,003 (GRCm39)	V447A	possibly damaging	Het
Gm4846	A	G	1: 166,323,550 (GRCm39)	S58P	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Lpcat2b	T	C	5: 107,581,865 (GRCm39)	L398P	possibly damaging	Het
Mapk8ip3	G	A	17: 25,123,761 (GRCm39)	P587L	probably damaging	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl38	T	C	11: 116,023,278 (GRCm39)	D325G	probably damaging	Het
Mtmr12	A	G	15: 12,270,132 (GRCm39)	E430G	probably damaging	Het
Mup18	T	A	4: 61,590,154 (GRCm39)	I125F	possibly damaging	Het
Ogdhl	A	G	14: 32,047,842 (GRCm39)	R31G	probably benign	Het
Or13f5	A	T	4: 52,825,399 (GRCm39)	M1L	probably benign	Het
Pcdh1	C	A	18: 38,330,913 (GRCm39)	V697L	probably benign	Het
Pcdhga9	T	C	18: 37,871,553 (GRCm39)	Y461H	probably damaging	Het
Pdzrn4	A	G	15: 92,667,723 (GRCm39)	Y625C	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Poglut2	A	C	1: 44,149,180 (GRCm39)	F453V	probably damaging	Het
Ptprn	T	A	1: 75,228,931 (GRCm39)	D828V	possibly damaging	Het
Rgs12	T	A	5: 35,177,700 (GRCm39)	W97R	probably damaging	Het
Rnf10	T	A	5: 115,386,762 (GRCm39)	Q508L	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec24b	A	T	3: 129,834,413 (GRCm39)	S126T	possibly damaging	Het
Slc6a5	A	G	7: 49,561,768 (GRCm39)	N100S	probably benign	Het
Speer1j	T	C	5: 11,553,798 (GRCm39)	S7P	probably benign	Het
Stam2	A	T	2: 52,605,716 (GRCm39)	D167E	probably benign	Het
Tbc1d32	A	G	10: 56,047,000 (GRCm39)	V556A	possibly damaging	Het
Tll2	T	C	19: 41,087,075 (GRCm39)	D592G	probably benign	Het
Tmem199	A	T	11: 78,400,508 (GRCm39)		probably benign	Het
Traip	T	A	9: 107,847,218 (GRCm39)	N352K	probably benign	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Usp54	C	A	14: 20,600,406 (GRCm39)	A1444S	probably benign	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Xdh	G	A	17: 74,225,389 (GRCm39)	T471I	probably damaging	Het
Zdhhc19	A	G	16: 32,316,494 (GRCm39)	D83G	probably damaging	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het
Zfp451	A	G	1: 33,841,752 (GRCm39)		probably benign	Het
Zfp963	A	T	8: 70,195,944 (GRCm39)	S170T	probably benign	Het
Zfp970	A	G	2: 177,167,961 (GRCm39)	I512V	probably benign	Het
Zfp990	A	G	4: 145,263,616 (GRCm39)	I205V	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
R2234:Stambp	UTSW	6	83,528,960 (GRCm39)	missense	probably damaging	1.00
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
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'- GTTACAGTCTGGAGTCTGCG -3'
(R):5'- AATTCTGGATTGGGAAATGAGACC -3'

Sequencing Primer
(F):5'- TGGGGGCCACATCTACACAAG -3'
(R):5'- GACCAGAGCAAAACTATACTTTGG -3'

Posted On

2015-10-08