Mutagenetix > Incidental Mutation

Incidental Mutation 'R7334:Stambpl1'

569404

Institutional Source

Beutler Lab

Gene Symbol

Stambpl1

Ensembl Gene

ENSMUSG00000024776

Gene Name

STAM binding protein like 1

Synonyms

1700095N21Rik, 8230401J17Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R7334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34192229-34240333 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34226648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 46 (I46T)

Ref Sequence

ENSEMBL: ENSMUSP00000059927 (fasta)

Gene Model

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

AlphaFold

Q76N33

Predicted Effect

probably damaging
Transcript: ENSMUST00000054956
AA Change: I46T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000059927
Gene: ENSMUSG00000024776
AA Change: I46T

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 damaging
Transcript: ENSMUST00000119603
AA Change: I46T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112938
Gene: ENSMUSG00000024776
AA Change: I46T

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

probably damaging
Transcript: ENSMUST00000129535
AA Change: I46T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115333
Gene: ENSMUSG00000024776
AA Change: I46T

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (75/76)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	T	3: 153,939,061	S9*	probably null	Het
Acot10	C	T	15: 20,665,543	V371I	possibly damaging	Het
Adam8	T	C	7: 139,988,990	E199G	probably damaging	Het
Aldh18a1	A	T	19: 40,551,252	W762R	probably damaging	Het
Aldh1a1	T	A	19: 20,621,711	V162E	probably damaging	Het
Alms1	A	G	6: 85,641,450	D2357G	probably damaging	Het
Arfgef1	G	T	1: 10,184,460	Q718K	probably damaging	Het
Arid5b	A	C	10: 68,243,177	V110G	possibly damaging	Het
Bpifb3	T	A	2: 153,919,734	D34E	probably damaging	Het
Cacfd1	C	T	2: 27,015,546	A85V	possibly damaging	Het
Cep57l1	C	A	10: 41,721,600	S345I	probably benign	Het
Clca3b	G	A	3: 144,836,656	R462*	probably null	Het
Cyp26c1	G	A	19: 37,688,875	V251I	probably benign	Het
Dip2a	A	G	10: 76,274,246	S1179P	possibly damaging	Het
Dnal1	T	C	12: 84,127,006	L27P	probably damaging	Het
Dock7	A	G	4: 98,975,943	V1288A	unknown	Het
Elmod1	A	T	9: 53,934,224		probably null	Het
Epb41l5	T	G	1: 119,623,949	K102T	probably damaging	Het
Fam92b	T	C	8: 120,174,850	T39A	probably damaging	Het
Fermt3	T	C	19: 7,003,038	I358V	probably benign	Het
Frmd3	A	G	4: 74,161,718	I316V	probably benign	Het
Fryl	T	C	5: 73,047,496		probably null	Het
Gm12394	G	A	4: 42,793,856	T92I	possibly damaging	Het
Gm4131	T	A	14: 62,464,907	H204L	possibly damaging	Het
Gm8298	T	A	3: 59,868,959	C184S	probably damaging	Het
Hmcn2	G	A	2: 31,435,794	G4278R	probably damaging	Het
Hmcn2	A	G	2: 31,453,135	S4558G	possibly damaging	Het
Igkv1-132	A	G	6: 67,760,124	T25A	probably benign	Het
Kcp	T	C	6: 29,485,512	E1161G	probably damaging	Het
Macf1	A	T	4: 123,399,442	I5371K	probably damaging	Het
Malrd1	T	A	2: 16,006,718	C1670S	probably damaging	Het
Mfsd13a	T	A	19: 46,368,370	V270E	probably damaging	Het
Mroh1	A	G	15: 76,427,638	I524V	probably benign	Het
Mta1	T	C	12: 113,126,798	S175P	possibly damaging	Het
Myo7a	C	T	7: 98,079,366	R800H	probably benign	Het
Ncald	T	A	15: 37,397,280	Y52F	probably damaging	Het
Nomo1	T	C	7: 46,083,268	S1152P	probably damaging	Het
Nr3c1	A	G	18: 39,487,037	F66L	probably benign	Het
Nrf1	T	C	6: 30,118,971	L363S	probably benign	Het
Olfr732	C	A	14: 50,281,579	V225F	probably benign	Het
Olfr875	A	T	9: 37,772,997	I113F	probably damaging	Het
Osbpl3	A	G	6: 50,344,906	M300T	possibly damaging	Het
Parpbp	T	A	10: 88,111,755	N339I	probably damaging	Het
Pdlim5	A	T	3: 142,244,917	H578Q	probably damaging	Het
Pear1	T	C	3: 87,750,225	N1009S	probably damaging	Het
Pnpla8	A	G	12: 44,311,503	I745M	probably damaging	Het
Pom121l12	C	A	11: 14,599,681	T129K	probably damaging	Het
Ppp1r14a	T	C	7: 29,293,262	S130P	probably damaging	Het
Prss12	A	C	3: 123,487,131	L488F	probably benign	Het
Psd3	C	T	8: 67,908,705	V559I	possibly damaging	Het
Rrh	T	C	3: 129,808,982	T364A	probably benign	Het
Shcbp1	A	T	8: 4,741,876	M479K	probably damaging	Het
Shcbp1	A	C	8: 4,754,310	F200C	probably damaging	Het
Slc9a3r1	C	T	11: 115,163,767	A81V	possibly damaging	Het
Slx1b	G	T	7: 126,692,527	R122S	probably damaging	Het
Spidr	A	G	16: 16,114,825		probably null	Het
St18	G	A	1: 6,802,559	D173N	probably benign	Het
Syne1	C	T	10: 5,057,886	D113N	probably damaging	Het
Tg	G	A	15: 66,725,272	V1741I	probably benign	Het
Thsd7b	T	A	1: 130,195,275	W1544R	probably benign	Het
Tiam2	G	A	17: 3,503,008	R1120H	possibly damaging	Het
Tinag	A	T	9: 77,001,649	C337S	probably damaging	Het
Tm4sf1	G	C	3: 57,293,089	A64G	probably damaging	Het
Tmprss6	A	G	15: 78,443,817	Y572H	unknown	Het
Tnfrsf11a	G	A	1: 105,827,129	A309T	possibly damaging	Het
Txndc11	A	G	16: 11,128,561	Y129H	probably damaging	Het
Ube3b	T	C	5: 114,415,681	F974S	possibly damaging	Het
Utrn	C	A	10: 12,728,009		probably null	Het
Vmn1r58	T	A	7: 5,411,067	M55L	probably benign	Het
Vnn1	T	A	10: 23,900,760	S336R	probably benign	Het
Wwc2	T	C	8: 47,869,794	Y424C	unknown	Het
Zfp507	T	C	7: 35,776,080	I903V	probably damaging	Het
Zfp551	C	T	7: 12,416,754	G243R	probably damaging	Het
Zfp60	T	A	7: 27,749,019	C371S	probably damaging	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
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
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'- GGCATGTGCTTACATTGGTC -3'
(R):5'- ATGCTGTGGTATGCATGCC -3'

Sequencing Primer
(F):5'- GCATGTGCTTACATTGGTCATATC -3'
(R):5'- TGGTATGCATGCCCCTGC -3'

Posted On

2019-09-13