Mutagenetix > Incidental Mutations

Incidental Mutation 'R2362:Stambpl1'

247201

Institutional Source

Beutler Lab

Gene Symbol

Stambpl1

Ensembl Gene

ENSMUSG00000024776

Gene Name

STAM binding protein like 1

Synonyms

1700095N21Rik, 8230401J17Rik

MMRRC Submission

040343-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.075) question?

Stock #

R2362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34192229-34240333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 34236354 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 328 (V328I)

Ref Sequence

ENSEMBL: ENSMUSP00000112938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039631] [ENSMUST00000054956] [ENSMUST00000119603] [ENSMUST00000129535]

AlphaFold

Q76N33

Predicted Effect

probably benign
Transcript: ENSMUST00000039631

SMART Domains

Protein: ENSMUSP00000048218
Gene: ENSMUSG00000035783

Domain	Start	End	E-Value	Type
ACTIN	7	377	9.92e-237	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054956
AA Change: V328I

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000059927
Gene: ENSMUSG00000024776
AA Change: V328I

Domain	Start	End	E-Value	Type
Pfam:USP8_dimer	19	132	3e-21	PFAM
coiled coil region	149	176	N/A	INTRINSIC
JAB_MPN	268	394	4.29e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119603
AA Change: V328I

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112938
Gene: ENSMUSG00000024776
AA Change: V328I

Domain	Start	End	E-Value	Type
Pfam:USP8_dimer	19	132	3.9e-21	PFAM
coiled coil region	149	176	N/A	INTRINSIC
JAB_MPN	268	394	4.29e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125232

Predicted Effect

probably benign
Transcript: ENSMUST00000129535

SMART Domains

Protein: ENSMUSP00000115333
Gene: ENSMUSG00000024776

Domain	Start	End	E-Value	Type
Pfam:USP8_dimer	19	112	5.8e-18	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130756

Meta Mutation Damage Score

0.2654

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	A	T	6: 132,627,479	M1K	probably null	Het
Aadat	A	G	8: 60,532,298		probably benign	Het
Acsm5	T	C	7: 119,528,426		probably benign	Het
Avl9	A	T	6: 56,736,570	N271I	probably benign	Het
Ccdc30	T	A	4: 119,324,056	N636I	probably damaging	Het
Cdr2	T	G	7: 120,970,331	I62L	possibly damaging	Het
Clk3	T	C	9: 57,754,619	I382V	possibly damaging	Het
Ctsr	T	A	13: 61,162,796	E45V	probably damaging	Het
Cyp2b19	A	G	7: 26,764,377	Y318C	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dapk1	A	G	13: 60,730,931	N578S	probably damaging	Het
Dlg5	A	T	14: 24,158,687	M817K	probably benign	Het
Dtx4	A	G	19: 12,492,535	V76A	probably damaging	Het
Eps15	T	C	4: 109,361,230	V430A	probably benign	Het
Fam160b2	A	G	14: 70,586,365	Y568H	probably benign	Het
Fxyd5	T	C	7: 31,036,471	N104S	probably benign	Het
Gm5155	T	G	7: 17,902,473		noncoding transcript	Het
Ift122	A	G	6: 115,884,350	D193G	probably damaging	Het
Lrrcc1	A	G	3: 14,563,024	E542G	probably damaging	Het
Macc1	T	C	12: 119,447,658		probably benign	Het
Ndst3	T	A	3: 123,552,678	Y234F	possibly damaging	Het
Olfr1477	A	T	19: 13,502,508	H55L	probably damaging	Het
Pes1	T	C	11: 3,977,123	F429S	probably damaging	Het
Polr3e	C	G	7: 120,942,564	D623E	probably damaging	Het
Rapgef6	T	C	11: 54,694,272	Y1494H	probably damaging	Het
Rbm14	T	C	19: 4,801,707		probably benign	Het
Rnf103	A	G	6: 71,510,017	D544G	probably benign	Het
Slc10a7	A	G	8: 78,509,632	I20V	probably damaging	Het
Sort1	C	T	3: 108,346,665	T549I	possibly damaging	Het
Thbd	A	G	2: 148,406,364	L528P	probably damaging	Het
Wbp11	A	T	6: 136,824,332	M63K	probably damaging	Het
Wdr11	T	A	7: 129,634,836	I1178N	probably benign	Het

Other mutations in Stambpl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Stambpl1	APN	19	34240030	missense	probably damaging	1.00
IGL01779:Stambpl1	APN	19	34240027	missense	possibly damaging	0.83
IGL01817:Stambpl1	APN	19	34233993	missense	possibly damaging	0.67
IGL02582:Stambpl1	APN	19	34235212	missense	probably benign	0.01
R1639:Stambpl1	UTSW	19	34236307	missense	probably benign	0.11
R1707:Stambpl1	UTSW	19	34238821	missense	probably damaging	1.00
R1732:Stambpl1	UTSW	19	34226721	missense	probably damaging	0.99
R1768:Stambpl1	UTSW	19	34226721	missense	probably damaging	0.99
R1887:Stambpl1	UTSW	19	34236408	missense	probably benign	0.38
R2150:Stambpl1	UTSW	19	34226704	missense	probably damaging	1.00
R4342:Stambpl1	UTSW	19	34234046	missense	probably benign	0.00
R4689:Stambpl1	UTSW	19	34236291	missense	probably benign	0.11
R5533:Stambpl1	UTSW	19	34233916	splice site	probably null
R5647:Stambpl1	UTSW	19	34234286	missense	probably benign	0.03
R6353:Stambpl1	UTSW	19	34234120	splice site	probably null
R6402:Stambpl1	UTSW	19	34234139	missense	probably benign	0.00
R7334:Stambpl1	UTSW	19	34226648	missense	probably damaging	1.00
R7413:Stambpl1	UTSW	19	34226716	missense	probably damaging	1.00
R7728:Stambpl1	UTSW	19	34236321	missense	possibly damaging	0.59
R8257:Stambpl1	UTSW	19	34231501	missense	probably damaging	0.99
R8341:Stambpl1	UTSW	19	34234001	missense	probably benign	0.44
R9163:Stambpl1	UTSW	19	34235234	missense	probably benign	0.01
Z1088:Stambpl1	UTSW	19	34226627	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ATACAAGGGGTGAGGTCTGC -3'
(R):5'- GACAGATTTATACACAGCTTGGCATTG -3'

Sequencing Primer
(F):5'- TGCTGGCTGATGACATCC -3'
(R):5'- CACAGCTTGGCATTGAATAAATTGC -3'

Posted On

2014-10-30