Mutagenetix > Incidental Mutation

Incidental Mutation 'R9766:Stambp'

733269

Institutional Source

Beutler Lab

Gene Symbol

Stambp

Ensembl Gene

ENSMUSG00000006906

Gene Name

STAM binding protein

Synonyms

5730422L11Rik, 5330424L14Rik, Amsh

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.812) question?

Stock #

R9766 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

83520193-83549711 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 83534469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 273 (A273S)

Ref Sequence

ENSEMBL: ENSMUSP00000070876 (fasta)

Gene Model

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

AlphaFold

Q9CQ26

Predicted Effect

probably benign
Transcript: ENSMUST00000068054
AA Change: A273S

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

SMART Domains

Protein: ENSMUSP00000070876
Gene: ENSMUSG00000006906
AA Change: A273S

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

probably benign
Transcript: ENSMUST00000206400
AA Change: A273S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206592
AA Change: A273S

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.5%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,385,788 (GRCm39)	V59A	probably benign	Het
Aatk	A	T	11: 119,902,565 (GRCm39)	H610Q	probably benign	Het
Acox1	G	A	11: 116,071,867 (GRCm39)	A187V	probably damaging	Het
Acsbg3	A	G	17: 57,189,177 (GRCm39)	Y195C	probably benign	Het
AI661453	C	T	17: 47,757,570 (GRCm39)	R76W	probably damaging	Het
Anapc1	C	T	2: 128,500,221 (GRCm39)	R808Q	probably damaging	Het
Ankrd26	T	C	6: 118,500,067 (GRCm39)	T1135A	possibly damaging	Het
Arhgap17	A	G	7: 122,921,148 (GRCm39)	V113A	probably benign	Het
Art3	T	C	5: 92,562,138 (GRCm39)	C379R	unknown	Het
Bltp3a	T	C	17: 28,105,799 (GRCm39)	L775P	probably damaging	Het
Bmp5	A	G	9: 75,800,982 (GRCm39)	I371V	probably damaging	Het
Ccdc88b	T	A	19: 6,833,096 (GRCm39)	E281V	probably damaging	Het
Ces1e	A	T	8: 93,946,031 (GRCm39)	Y171N	probably damaging	Het
Cib3	A	T	8: 72,961,034 (GRCm39)	F68I	possibly damaging	Het
Crtac1	A	T	19: 42,402,557 (GRCm39)	L17Q	possibly damaging	Het
Crybg3	A	T	16: 59,376,207 (GRCm39)	S1682R	probably benign	Het
Ddx60	G	A	8: 62,465,312 (GRCm39)	G1323D	probably damaging	Het
Dock3	A	C	9: 106,788,483 (GRCm39)	D161E	probably benign	Het
Dpep3	A	C	8: 106,705,369 (GRCm39)	L127R	probably damaging	Het
Dus2	A	G	8: 106,772,568 (GRCm39)	D226G	probably damaging	Het
Ebna1bp2	T	C	4: 118,480,821 (GRCm39)	V184A	possibly damaging	Het
Edem1	T	A	6: 108,823,648 (GRCm39)	I348N	probably damaging	Het
Efcab8	A	T	2: 153,656,362 (GRCm39)	M599L	unknown	Het
Eif2ak4	A	T	2: 118,261,313 (GRCm39)	K618*	probably null	Het
Fbxw27	T	C	9: 109,602,215 (GRCm39)	K253E	possibly damaging	Het
Fgf5	A	G	5: 98,423,113 (GRCm39)	E166G	possibly damaging	Het
Flot1	G	T	17: 36,141,555 (GRCm39)	E321*	probably null	Het
Gm14443	T	C	2: 175,012,248 (GRCm39)	E66G	probably benign	Het
Gprc6a	G	A	10: 51,491,884 (GRCm39)	P622S	probably damaging	Het
Gsta2	A	T	9: 78,244,876 (GRCm39)	Y79*	probably null	Het
Hecw2	A	G	1: 53,904,287 (GRCm39)	S1154P	probably damaging	Het
Hrob	A	T	11: 102,146,586 (GRCm39)	Q287H	possibly damaging	Het
Kcnd2	T	C	6: 21,216,367 (GRCm39)	S24P	probably benign	Het
Knl1	A	G	2: 118,900,381 (GRCm39)	D694G	probably damaging	Het
L1td1	T	C	4: 98,624,753 (GRCm39)	I316T	probably benign	Het
Lrsam1	G	T	2: 32,818,077 (GRCm39)	Q660K	probably benign	Het
Muc16	T	A	9: 18,548,153 (GRCm39)	T6047S	probably benign	Het
Muc16	T	A	9: 18,552,383 (GRCm39)	T4637S	probably benign	Het
Myo5a	T	C	9: 75,078,914 (GRCm39)	Y891H	probably damaging	Het
Nkd2	G	T	13: 73,995,131 (GRCm39)	D22E	possibly damaging	Het
Patl2	A	T	2: 121,954,212 (GRCm39)	V453E	probably damaging	Het
Pcnx2	A	G	8: 126,488,313 (GRCm39)	Y1744H	probably damaging	Het
Phf8-ps	T	G	17: 33,285,647 (GRCm39)	N385T	probably damaging	Het
Pira2	T	A	7: 3,845,517 (GRCm39)	H289L	possibly damaging	Het
Pitpnm1	T	C	19: 4,158,117 (GRCm39)	I569T	probably benign	Het
Ppp4r4	T	C	12: 103,562,735 (GRCm39)	V568A	probably benign	Het
Ptf1a	G	A	2: 19,451,062 (GRCm39)	G131S	probably benign	Het
Rasgrf2	G	T	13: 92,160,188 (GRCm39)	H396N	probably damaging	Het
Rfx1	C	T	8: 84,814,376 (GRCm39)	T315M	probably damaging	Het
Rnf207	C	A	4: 152,400,402 (GRCm39)	R148L	probably damaging	Het
Scn11a	T	G	9: 119,584,181 (GRCm39)	N1478T	probably damaging	Het
Sdr39u1	C	T	14: 56,135,194 (GRCm39)	V250I	probably benign	Het
Serinc3	T	C	2: 163,471,095 (GRCm39)	T276A	probably damaging	Het
Speer4a3	AACT	A	5: 26,155,849 (GRCm39)		probably benign	Het
Taf2	T	C	15: 54,910,881 (GRCm39)		probably null	Het
Tex26	A	T	5: 149,386,642 (GRCm39)	Y232F	probably damaging	Het
Tmem258	T	C	19: 10,184,578 (GRCm39)	L55P	probably damaging	Het
Trappc8	A	G	18: 20,979,630 (GRCm39)	I755T	possibly damaging	Het
Ubr4	T	C	4: 139,194,595 (GRCm39)	Y1163H	unknown	Het
Usp14	G	A	18: 10,005,630 (GRCm39)	T254I	probably benign	Het
Vcan	A	G	13: 89,839,247 (GRCm39)	L2099P	probably benign	Het
Wdfy3	C	T	5: 102,042,866 (GRCm39)	V1962I	possibly damaging	Het
Zfp407	T	C	18: 84,577,574 (GRCm39)	T1180A	probably benign	Het
Zfp644	C	A	5: 106,784,691 (GRCm39)	G619C	probably 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
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

Predicted Primers

PCR Primer
(F):5'- TGGGATCATGCCATGCACTC -3'
(R):5'- AGTAATCCACACTTCTGGCAGAG -3'

Sequencing Primer
(F):5'- ATGCCATGCACTCTCTGTGG -3'
(R):5'- ATGGCTGATCCCTACGGAG -3'

Posted On

2022-11-14