Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01779:Stambpl1'

153897

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stambpl1

Ensembl Gene

ENSMUSG00000024776

Gene Name

STAM binding protein like 1

Synonyms

1700095N21Rik, 8230401J17Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

IGL01779

Quality Score

Status

Chromosome

Chromosomal Location

34192229-34240333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34240027 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 422 (H422L)

Ref Sequence

ENSEMBL: ENSMUSP00000112938 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000054956
AA Change: H422L

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000059927
Gene: ENSMUSG00000024776
AA Change: H422L

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

possibly damaging
Transcript: ENSMUST00000119603
AA Change: H422L

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000112938
Gene: ENSMUSG00000024776
AA Change: H422L

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	T	5: 81,387,870	I119F	probably damaging	Het
Akt1	C	T	12: 112,657,169	G286R	probably damaging	Het
Apof	A	G	10: 128,269,477	I167V	probably benign	Het
Arhgap15	A	G	2: 44,065,045	E220G	possibly damaging	Het
Clca3a2	T	A	3: 144,819,378	Y31F	possibly damaging	Het
Clmn	T	C	12: 104,782,140	I383V	probably benign	Het
Cntnap5b	A	G	1: 99,967,339	D112G	probably damaging	Het
Col8a1	A	T	16: 57,628,363	H261Q	unknown	Het
Csmd3	A	T	15: 47,857,894	V1551D	probably benign	Het
Ddx60	G	A	8: 62,017,823	V1450M	possibly damaging	Het
Ethe1	A	T	7: 24,595,009	H79L	probably damaging	Het
Fhdc1	G	A	3: 84,444,735	A1061V	possibly damaging	Het
Gm11110	C	T	17: 57,102,087		probably benign	Het
Hs1bp3	C	T	12: 8,341,945	T349I	probably benign	Het
Ifna16	A	T	4: 88,676,645	I71N	probably damaging	Het
Il18bp	A	G	7: 102,016,795	Y59H	possibly damaging	Het
Kcnt1	T	A	2: 25,900,967	I511N	probably damaging	Het
Mlph	A	G	1: 90,942,950	M528V	probably benign	Het
Olfr646	A	G	7: 104,106,633	D118G	probably damaging	Het
Pprc1	T	A	19: 46,062,202	I52N	probably damaging	Het
Rfx1	T	A	8: 84,092,662		probably benign	Het
Rnf17	A	T	14: 56,462,063	I553F	probably benign	Het
Scaper	A	T	9: 55,892,240	H180Q	probably benign	Het
Slc26a4	C	T	12: 31,528,854		probably benign	Het
Slc30a10	A	T	1: 185,464,179	Q346L	possibly damaging	Het
Trim67	G	A	8: 124,828,121	G701R	probably damaging	Het
Vipr1	T	C	9: 121,664,630	F249S	probably damaging	Het
Vmn2r117	G	T	17: 23,477,241	D397E	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
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
R2362:Stambpl1	UTSW	19	34236354	missense	probably benign	0.31
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
R9694:Stambpl1	UTSW	19	34234135	missense	probably benign
Z1088:Stambpl1	UTSW	19	34226627	missense	probably damaging	0.96

Posted On

2014-02-04