Mutagenetix > Incidental Mutation

Incidental Mutation 'R5647:Stambpl1'

441251

Institutional Source

Beutler Lab

Gene Symbol

Stambpl1

Ensembl Gene

ENSMUSG00000024776

Gene Name

STAM binding protein like 1

Synonyms

1700095N21Rik, 8230401J17Rik

MMRRC Submission

043295-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R5647 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34169629-34217733 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 34211686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 249 (L249P)

Ref Sequence

ENSEMBL: ENSMUSP00000112938 (fasta)

Gene Model

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

AlphaFold

Q76N33

Predicted Effect

probably benign
Transcript: ENSMUST00000054956
AA Change: L249P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000059927
Gene: ENSMUSG00000024776
AA Change: L249P

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: L249P

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000112938
Gene: ENSMUSG00000024776
AA Change: L249P

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

95% (55/58)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010L04Rik	T	C	7: 82,505,606 (GRCm39)		noncoding transcript	Het
9330159F19Rik	A	T	10: 29,101,250 (GRCm39)	D541V	probably damaging	Het
Abcc5	T	C	16: 20,218,597 (GRCm39)	I262V	probably damaging	Het
Acvr1c	T	A	2: 58,185,976 (GRCm39)	D169V	probably damaging	Het
Aldh16a1	A	G	7: 44,803,889 (GRCm39)	V6A	probably benign	Het
Brd10	A	G	19: 29,731,210 (GRCm39)	S601P	possibly damaging	Het
Cd36	A	C	5: 18,019,763 (GRCm39)	S113A	probably damaging	Het
Cdt1	G	T	8: 123,296,947 (GRCm39)	R247L	possibly damaging	Het
Ces4a	G	A	8: 105,872,712 (GRCm39)	V322M	probably benign	Het
Cngb3	A	T	4: 19,364,266 (GRCm39)	T157S	possibly damaging	Het
Cpped1	T	C	16: 11,646,010 (GRCm39)		probably benign	Het
Ctr9	G	T	7: 110,654,751 (GRCm39)	R1094L	unknown	Het
Cyld	A	T	8: 89,461,554 (GRCm39)	I664L	probably benign	Het
Dvl2	C	T	11: 69,900,275 (GRCm39)	P690S	possibly damaging	Het
Fbxo7	A	C	10: 85,864,974 (GRCm39)	E94D	probably damaging	Het
Fstl5	A	C	3: 76,496,399 (GRCm39)	K387N	probably damaging	Het
Gm9845	A	C	3: 39,412,520 (GRCm39)		noncoding transcript	Het
Hk1	T	C	10: 62,111,523 (GRCm39)	D746G	probably damaging	Het
Lmbr1	A	G	5: 29,468,391 (GRCm39)		probably null	Het
Lrp2	C	T	2: 69,350,258 (GRCm39)	A705T	probably null	Het
Lrrc37	T	C	11: 103,508,300 (GRCm39)		probably benign	Het
Mybpc3	A	G	2: 90,952,067 (GRCm39)		probably null	Het
Myo15b	T	A	11: 115,762,337 (GRCm39)	L1219Q	probably damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Or4g16	G	T	2: 111,137,392 (GRCm39)	A281S	possibly damaging	Het
Or5b111	A	T	19: 13,291,553 (GRCm39)	I32N	probably damaging	Het
Or5b113	T	C	19: 13,342,541 (GRCm39)	V183A	probably damaging	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Pcnt	T	C	10: 76,221,675 (GRCm39)	T1984A	probably benign	Het
Plcg1	T	C	2: 160,593,588 (GRCm39)	L251P	probably benign	Het
Plin1	T	A	7: 79,371,320 (GRCm39)	D468V	probably benign	Het
Pmp2	A	G	3: 10,248,845 (GRCm39)	V12A	probably benign	Het
Rnf19a	T	A	15: 36,266,109 (GRCm39)		probably benign	Het
Rnf214	G	A	9: 45,779,344 (GRCm39)	Q469*	probably null	Het
Rrp1b	T	G	17: 32,274,985 (GRCm39)		probably benign	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Sema3e	A	T	5: 14,275,567 (GRCm39)	E224V	probably damaging	Het
Sphkap	A	G	1: 83,385,720 (GRCm39)	S5P	probably damaging	Het
Stab1	A	C	14: 30,879,397 (GRCm39)	Y694*	probably null	Het
Thap4	A	T	1: 93,642,665 (GRCm39)	H515Q	probably damaging	Het
Ticam1	TCACACA	TCACA	17: 56,577,629 (GRCm39)		probably null	Het
Uaca	A	G	9: 60,779,380 (GRCm39)	R1256G	probably benign	Het
Usp17lb	T	A	7: 104,489,881 (GRCm39)	N348Y	possibly damaging	Het
Vmn1r42	A	G	6: 89,822,314 (GRCm39)	I85T	probably benign	Het
Vps9d1	A	T	8: 123,975,598 (GRCm39)	L149Q	probably damaging	Het
Zdhhc17	A	T	10: 110,809,694 (GRCm39)	I153N	probably damaging	Het
Zfp207	G	A	11: 80,283,959 (GRCm39)	S293N	possibly damaging	Het
Zfp346	A	G	13: 55,270,170 (GRCm39)	D198G	probably damaging	Het
Zfp953	A	T	13: 67,491,536 (GRCm39)	C139S	possibly damaging	Het

Other mutations in Stambpl1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00496:Stambpl1	APN	19	34,217,430 (GRCm39)	missense	probably damaging	1.00
IGL01779:Stambpl1	APN	19	34,217,427 (GRCm39)	missense	possibly damaging	0.83
IGL01817:Stambpl1	APN	19	34,211,393 (GRCm39)	missense	possibly damaging	0.67
IGL02582:Stambpl1	APN	19	34,212,612 (GRCm39)	missense	probably benign	0.01
R1639:Stambpl1	UTSW	19	34,213,707 (GRCm39)	missense	probably benign	0.11
R1707:Stambpl1	UTSW	19	34,216,221 (GRCm39)	missense	probably damaging	1.00
R1732:Stambpl1	UTSW	19	34,204,121 (GRCm39)	missense	probably damaging	0.99
R1768:Stambpl1	UTSW	19	34,204,121 (GRCm39)	missense	probably damaging	0.99
R1887:Stambpl1	UTSW	19	34,213,808 (GRCm39)	missense	probably benign	0.38
R2150:Stambpl1	UTSW	19	34,204,104 (GRCm39)	missense	probably damaging	1.00
R2362:Stambpl1	UTSW	19	34,213,754 (GRCm39)	missense	probably benign	0.31
R4342:Stambpl1	UTSW	19	34,211,446 (GRCm39)	missense	probably benign	0.00
R4689:Stambpl1	UTSW	19	34,213,691 (GRCm39)	missense	probably benign	0.11
R5533:Stambpl1	UTSW	19	34,211,316 (GRCm39)	splice site	probably null
R6353:Stambpl1	UTSW	19	34,211,520 (GRCm39)	splice site	probably null
R6402:Stambpl1	UTSW	19	34,211,539 (GRCm39)	missense	probably benign	0.00
R7334:Stambpl1	UTSW	19	34,204,048 (GRCm39)	missense	probably damaging	1.00
R7413:Stambpl1	UTSW	19	34,204,116 (GRCm39)	missense	probably damaging	1.00
R7728:Stambpl1	UTSW	19	34,213,721 (GRCm39)	missense	possibly damaging	0.59
R8257:Stambpl1	UTSW	19	34,208,901 (GRCm39)	missense	probably damaging	0.99
R8341:Stambpl1	UTSW	19	34,211,401 (GRCm39)	missense	probably benign	0.44
R9163:Stambpl1	UTSW	19	34,212,634 (GRCm39)	missense	probably benign	0.01
R9694:Stambpl1	UTSW	19	34,211,535 (GRCm39)	missense	probably benign
Z1088:Stambpl1	UTSW	19	34,204,027 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCAAGAAGCAGGAGTTGGCTC -3'
(R):5'- CAAGCTGTATGCATGTCTTGAG -3'

Sequencing Primer
(F):5'- TCGAGGCCAGATTCGAGGTC -3'
(R):5'- TGCATGTCTTGAGTAAAACACGACG -3'

Posted On

2016-11-08