Mutagenetix > Incidental Mutation

Incidental Mutation 'R1554:Stam'

170132

Institutional Source

Beutler Lab

Gene Symbol

Stam

Ensembl Gene

ENSMUSG00000026718

Gene Name

signal transducing adaptor molecule (SH3 domain and ITAM motif) 1

Synonyms

STAM1

MMRRC Submission

039593-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.256) question?

Stock #

R1554 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

14078910-14153296 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 14146639 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 446 (S446P)

Ref Sequence

ENSEMBL: ENSMUSP00000100025 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028050] [ENSMUST00000102960] [ENSMUST00000193636]

AlphaFold

P70297

Predicted Effect

probably benign
Transcript: ENSMUST00000028050
AA Change: S446P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000028050
Gene: ENSMUSG00000026718
AA Change: S446P

Domain	Start	End	E-Value	Type
VHS	9	139	1.87e-63	SMART
UIM	171	190	1.6e-2	SMART
SH3	213	268	8.29e-23	SMART
PDB:3F1I\|C	301	377	9e-46	PDB
low complexity region	387	404	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102960
AA Change: S446P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100025
Gene: ENSMUSG00000026718
AA Change: S446P

Domain	Start	End	E-Value	Type
VHS	9	139	1.87e-63	SMART
UIM	171	190	1.6e-2	SMART
SH3	213	268	8.29e-23	SMART
Pfam:GAT	304	377	6.8e-10	PFAM
low complexity region	387	404	N/A	INTRINSIC
low complexity region	482	501	N/A	INTRINSIC
low complexity region	533	540	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128777

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131734

Predicted Effect

probably benign
Transcript: ENSMUST00000193636

SMART Domains

Protein: ENSMUSP00000141207
Gene: ENSMUSG00000026718

Domain	Start	End	E-Value	Type
Pfam:VHS	5	44	2e-8	PFAM

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.2%
20x: 89.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the signal-transducing adaptor molecule family. These proteins mediate downstream signaling of cytokine receptors and also play a role in ER to Golgi trafficking by interacting with the coat protein II complex. The encoded protein also associates with hepatocyte growth factor-regulated substrate to form the endosomal sorting complex required for transport-0 (ESCRT-0), which sorts ubiquitinated membrane proteins to the ESCRT-1 complex for lysosomal degradation. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit progressive growth retardation, priapism, male infertility, degeneration of hippocapal CA3 pyramidal neurons and premature death, but exhibit normal lymphocyte development, proliferation and responses. [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
A1cf	T	A	19: 31,886,302 (GRCm39)	D70E	possibly damaging	Het
Adamts7	A	T	9: 90,055,703 (GRCm39)	D152V	probably damaging	Het
Api5	T	C	2: 94,255,988 (GRCm39)	D233G	probably benign	Het
Btaf1	A	G	19: 36,973,998 (GRCm39)	D1390G	probably benign	Het
Cep135	G	A	5: 76,782,060 (GRCm39)	W893*	probably null	Het
Cgas	A	T	9: 78,342,838 (GRCm39)	S321R	probably damaging	Het
Cmtm6	T	A	9: 114,575,550 (GRCm39)	V153D	possibly damaging	Het
Dnah11	C	T	12: 118,046,234 (GRCm39)	V1735I	possibly damaging	Het
Dnm1l	T	C	16: 16,159,290 (GRCm39)	N104S	probably benign	Het
Dpyd	A	T	3: 118,858,695 (GRCm39)		probably null	Het
Dtx1	T	C	5: 120,821,386 (GRCm39)	K387R	probably damaging	Het
Ercc4	A	G	16: 12,965,486 (GRCm39)	D706G	probably damaging	Het
Fat2	T	C	11: 55,144,490 (GRCm39)	N4128S	probably benign	Het
Gm42669	T	A	5: 107,655,653 (GRCm39)	C639S	possibly damaging	Het
Grk3	T	A	5: 113,117,135 (GRCm39)	I89L	possibly damaging	Het
Grm8	A	T	6: 28,125,852 (GRCm39)	D91E	probably benign	Het
Havcr1	C	A	11: 46,643,334 (GRCm39)	H85N	probably benign	Het
Il12rb1	G	A	8: 71,266,016 (GRCm39)		probably null	Het
Kif3a	A	G	11: 53,489,154 (GRCm39)	K117E	probably damaging	Het
Kitl	T	A	10: 99,923,300 (GRCm39)	F15L	probably benign	Het
Ktn1	T	G	14: 47,932,964 (GRCm39)	L706R	probably damaging	Het
Lipg	T	C	18: 75,081,118 (GRCm39)	Y321C	probably damaging	Het
Mapk8ip3	T	C	17: 25,122,033 (GRCm39)	D710G	probably benign	Het
Mchr1	A	G	15: 81,120,021 (GRCm39)	N16S	probably benign	Het
Myadml2	A	T	11: 120,538,553 (GRCm39)	L94*	probably null	Het
Npr3	C	A	15: 11,848,649 (GRCm39)	M439I	probably benign	Het
Obscn	A	G	11: 58,894,474 (GRCm39)	I6677T	unknown	Het
Ogn	A	C	13: 49,774,520 (GRCm39)	D221A	probably benign	Het
Or8b40	T	C	9: 38,027,230 (GRCm39)	I46T	probably benign	Het
Pard3b	C	A	1: 62,677,053 (GRCm39)	Q1195K	probably damaging	Het
Pcsk4	T	C	10: 80,157,785 (GRCm39)	E608G	probably benign	Het
Pdlim1	T	C	19: 40,211,516 (GRCm39)	D259G	probably benign	Het
Per1	T	C	11: 68,994,453 (GRCm39)	S526P	probably damaging	Het
Pfkfb2	A	G	1: 130,634,209 (GRCm39)	V156A	probably damaging	Het
Ppp4r3a	A	T	12: 101,022,081 (GRCm39)	D307E	probably damaging	Het
Rims4	T	C	2: 163,721,042 (GRCm39)	S70G	probably damaging	Het
Rnf213	T	C	11: 119,332,665 (GRCm39)	F2625L	probably benign	Het
Sap130	T	C	18: 31,799,525 (GRCm39)	L334P	probably damaging	Het
Slc16a10	T	C	10: 39,952,796 (GRCm39)	I233V	probably benign	Het
Slc16a7	A	C	10: 125,066,791 (GRCm39)	F283V	possibly damaging	Het
Slc25a24	T	C	3: 109,043,586 (GRCm39)	M81T	probably benign	Het
Slc30a9	A	G	5: 67,484,264 (GRCm39)	R134G	probably damaging	Het
Slc35d3	G	T	10: 19,726,483 (GRCm39)	L96M	probably damaging	Het
Slc7a11	C	T	3: 50,336,345 (GRCm39)	G333D	probably damaging	Het
Stk38	T	A	17: 29,198,206 (GRCm39)	N248I	possibly damaging	Het
Tasor2	A	G	13: 3,626,374 (GRCm39)	V1192A	possibly damaging	Het
Tle6	A	C	10: 81,431,219 (GRCm39)	S221A	probably benign	Het
Tmprss11b	G	A	5: 86,809,490 (GRCm39)	T334I	probably benign	Het
Tmprss11c	T	A	5: 86,437,119 (GRCm39)	M1L	possibly damaging	Het
Tpm1	T	C	9: 66,930,711 (GRCm39)	H262R	probably benign	Het
Tspan33	T	C	6: 29,711,081 (GRCm39)	S118P	possibly damaging	Het
Tyk2	A	G	9: 21,019,218 (GRCm39)	V1068A	probably damaging	Het
Ubr2	T	C	17: 47,283,877 (GRCm39)	I591V	probably benign	Het
Utp20	A	T	10: 88,600,599 (GRCm39)	Y38*	probably null	Het
Vmn1r217	A	T	13: 23,298,464 (GRCm39)	I146N	possibly damaging	Het
Zfp608	T	C	18: 55,031,126 (GRCm39)	Y938C	probably damaging	Het

Other mutations in Stam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00972:Stam	APN	2	14,120,779 (GRCm39)	intron	probably benign
IGL02964:Stam	APN	2	14,120,779 (GRCm39)	intron	probably benign
IGL03365:Stam	APN	2	14,151,201 (GRCm39)	nonsense	probably null
R0058:Stam	UTSW	2	14,142,952 (GRCm39)	missense	probably damaging	1.00
R0410:Stam	UTSW	2	14,143,802 (GRCm39)	missense	probably benign	0.04
R0479:Stam	UTSW	2	14,122,306 (GRCm39)	missense	probably damaging	1.00
R1018:Stam	UTSW	2	14,122,185 (GRCm39)	splice site	probably benign
R1631:Stam	UTSW	2	14,151,059 (GRCm39)	nonsense	probably null
R1897:Stam	UTSW	2	14,133,837 (GRCm39)	missense	probably damaging	1.00
R3735:Stam	UTSW	2	14,133,823 (GRCm39)	missense	probably damaging	1.00
R3973:Stam	UTSW	2	14,143,772 (GRCm39)	missense	probably damaging	1.00
R4610:Stam	UTSW	2	14,120,669 (GRCm39)	missense	probably damaging	1.00
R4914:Stam	UTSW	2	14,107,227 (GRCm39)	missense	probably damaging	1.00
R5079:Stam	UTSW	2	14,079,350 (GRCm39)	missense	probably benign
R5209:Stam	UTSW	2	14,151,158 (GRCm39)	missense	probably benign	0.04
R5574:Stam	UTSW	2	14,120,675 (GRCm39)	missense	probably damaging	1.00
R5636:Stam	UTSW	2	14,122,238 (GRCm39)	missense	probably damaging	1.00
R6968:Stam	UTSW	2	14,120,829 (GRCm39)	missense	probably damaging	1.00
R7384:Stam	UTSW	2	14,139,241 (GRCm39)	missense	probably benign	0.17
R8127:Stam	UTSW	2	14,122,284 (GRCm39)	missense	probably damaging	0.99
R8687:Stam	UTSW	2	14,151,096 (GRCm39)	utr 3 prime	probably benign
R8687:Stam	UTSW	2	14,151,091 (GRCm39)	utr 3 prime	probably benign
R8938:Stam	UTSW	2	14,133,984 (GRCm39)	critical splice donor site	probably null
R9423:Stam	UTSW	2	14,146,564 (GRCm39)	missense	possibly damaging	0.46
R9435:Stam	UTSW	2	14,120,801 (GRCm39)	missense	probably damaging	1.00
R9632:Stam	UTSW	2	14,122,204 (GRCm39)	missense	probably damaging	1.00
Z1088:Stam	UTSW	2	14,143,901 (GRCm39)	nonsense	probably null
Z1176:Stam	UTSW	2	14,133,375 (GRCm39)	missense	possibly damaging	0.95
Z1176:Stam	UTSW	2	14,120,824 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTAACTGAATGCCTCTGCTGAGTAAC -3'
(R):5'- ACTTCACCCGTGTTCTTACAAAGCC -3'

Sequencing Primer
(F):5'- CCTCTGCTGAGTAACTTTGGAATATG -3'
(R):5'- GTGTTCTTACAAAGCCAACTCTAGAC -3'

Posted On

2014-04-13