Mutagenetix > Incidental Mutation

Incidental Mutation 'R8803:Stambp'

671620

Institutional Source

Beutler Lab

Gene Symbol

Stambp

Ensembl Gene

ENSMUSG00000006906

Gene Name

STAM binding protein

Synonyms

5730422L11Rik, 5330424L14Rik, Amsh

MMRRC Submission

068640-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.812) question?

Stock #

R8803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

83520193-83549711 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 83524212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000070876 (fasta)

Gene Model

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

AlphaFold

Q9CQ26

Predicted Effect

probably null
Transcript: ENSMUST00000068054

SMART Domains

Protein: ENSMUSP00000070876
Gene: ENSMUSG00000006906

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206592

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (68/68)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	A	8: 60,998,290 (GRCm39)	S431T	probably benign	Het
Acot7	T	G	4: 152,302,272 (GRCm39)	V128G	probably damaging	Het
Actn3	T	C	19: 4,914,691 (GRCm39)	D508G	probably benign	Het
Adam18	T	C	8: 25,137,878 (GRCm39)	I321V	probably benign	Het
Ak1	T	C	2: 32,523,490 (GRCm39)	V186A	probably benign	Het
Aldh3a2	A	G	11: 61,139,756 (GRCm39)	F459L	probably benign	Het
Atp11a	T	C	8: 12,875,721 (GRCm39)	L256P	probably benign	Het
Bcan	T	C	3: 87,903,999 (GRCm39)	E162G	probably benign	Het
Birc6	A	G	17: 74,959,033 (GRCm39)	Q3850R	probably damaging	Het
Btf3l4	T	G	4: 108,689,084 (GRCm39)		probably benign	Het
Btla	A	G	16: 45,059,430 (GRCm39)	T45A	probably benign	Het
Cad	T	G	5: 31,226,908 (GRCm39)	S1222A	probably damaging	Het
Cbarp	A	G	10: 79,972,976 (GRCm39)	V39A	possibly damaging	Het
Cct2	A	C	10: 116,894,090 (GRCm39)	D221E	probably benign	Het
Cmya5	T	C	13: 93,177,991 (GRCm39)	D3621G	probably damaging	Het
Col20a1	G	T	2: 180,643,131 (GRCm39)	R867L	possibly damaging	Het
Cops3	A	G	11: 59,718,802 (GRCm39)	V164A	probably benign	Het
Crygf	A	G	1: 65,967,148 (GRCm39)	R91G	probably damaging	Het
Csmd2	T	A	4: 128,440,477 (GRCm39)	S3181T		Het
Cyb5r1	G	T	1: 134,333,696 (GRCm39)		probably benign	Het
Dennd6b	T	A	15: 89,070,383 (GRCm39)	I429F	probably benign	Het
Dock1	A	G	7: 134,475,816 (GRCm39)	T864A	probably benign	Het
Eea1	A	T	10: 95,859,853 (GRCm39)	D713V	probably benign	Het
Fam78b	G	A	1: 166,829,160 (GRCm39)	C9Y	probably damaging	Het
Gga2	A	C	7: 121,597,002 (GRCm39)	D371E	probably benign	Het
Gtpbp6	A	T	5: 110,255,186 (GRCm39)	V2E	unknown	Het
Hectd4	A	T	5: 121,461,994 (GRCm39)	M954L	probably benign	Het
Hmcn1	A	G	1: 150,610,248 (GRCm39)	C1474R	probably damaging	Het
Igkv1-99	G	T	6: 68,519,370 (GRCm39)	G109V		Het
Izumo3	T	C	4: 92,033,310 (GRCm39)		probably null	Het
Kremen1	T	C	11: 5,144,981 (GRCm39)	D465G	probably benign	Het
Ksr1	T	C	11: 79,036,882 (GRCm39)	E75G	probably benign	Het
Mmp17	G	T	5: 129,675,773 (GRCm39)	E311*	probably null	Het
Mmrn1	T	A	6: 60,965,271 (GRCm39)	F1101I	probably damaging	Het
Muc13	G	A	16: 33,633,287 (GRCm39)		probably benign	Het
Myl4	T	A	11: 104,475,403 (GRCm39)	M147K	probably damaging	Het
Myo1a	T	A	10: 127,546,856 (GRCm39)	N334K	probably benign	Het
Myo3b	T	C	2: 70,083,338 (GRCm39)	S664P	probably benign	Het
Nptxr	T	C	15: 79,678,655 (GRCm39)	N211D	probably damaging	Het
Ntf5	A	G	7: 45,065,485 (GRCm39)	T206A	probably benign	Het
Obscn	T	A	11: 58,945,229 (GRCm39)	E4596D	probably benign	Het
Or4d10c	T	C	19: 12,065,469 (GRCm39)	E229G	probably benign	Het
Or4f14d	T	C	2: 111,960,427 (GRCm39)	H243R	probably damaging	Het
Or5ak20	T	A	2: 85,184,078 (GRCm39)	Q64L	probably damaging	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5b3	A	T	19: 13,388,037 (GRCm39)	I35F	probably damaging	Het
Or7e169	A	T	9: 19,757,462 (GRCm39)	I151N	possibly damaging	Het
Paip2	A	G	18: 35,749,273 (GRCm39)	N114D	possibly damaging	Het
Pcnx1	T	C	12: 82,039,925 (GRCm39)	S2071P	possibly damaging	Het
Pcsk2	A	G	2: 143,637,870 (GRCm39)	T369A	probably damaging	Het
Ppp1r12b	A	C	1: 134,818,492 (GRCm39)		probably benign	Het
Ppp1r35	T	A	5: 137,777,731 (GRCm39)	D132E	possibly damaging	Het
Pramel7	A	T	2: 87,320,405 (GRCm39)	V296E	probably benign	Het
Prh1	C	T	6: 132,548,948 (GRCm39)	P152S	unknown	Het
Pygl	T	C	12: 70,242,390 (GRCm39)	T689A	probably damaging	Het
Rasgef1b	T	C	5: 99,369,269 (GRCm39)	S450G	probably benign	Het
Rtn4ip1	G	T	10: 43,783,842 (GRCm39)	R121L	probably damaging	Het
Scarf2	A	T	16: 17,620,695 (GRCm39)	H121L	probably damaging	Het
Selenbp1	C	A	3: 94,851,821 (GRCm39)	A454E	possibly damaging	Het
Slc7a9	A	G	7: 35,163,143 (GRCm39)	I449M	possibly damaging	Het
Snapc2	C	T	8: 4,305,558 (GRCm39)	H278Y	probably damaging	Het
Syne1	T	C	10: 5,311,535 (GRCm39)	Y550C	probably damaging	Het
Tas2r113	T	C	6: 132,870,104 (GRCm39)	V44A	possibly damaging	Het
Trpv4	T	C	5: 114,772,816 (GRCm39)	T305A	probably benign	Het
Twf1	T	C	15: 94,479,136 (GRCm39)	Y241C	probably damaging	Het
Ugt2a3	T	C	5: 87,484,389 (GRCm39)	K212E	probably damaging	Het
Ush2a	A	T	1: 188,676,998 (GRCm39)	H4770L	probably benign	Het
Zfc3h1	T	C	10: 115,247,800 (GRCm39)	V1001A	probably benign	Het
Zfp335	C	T	2: 164,751,290 (GRCm39)	R92Q	probably benign	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
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'- AACGTTTGCCGAGCAGACA -3'
(R):5'- TATCGGGCCGTTCCTATTGA -3'

Sequencing Primer
(F):5'- TGAGCACACATTCTGTCACTGGG -3'
(R):5'- GTTCCTATTGAGACTGCCACAGG -3'

Posted On

2021-04-30