Mutagenetix > Incidental Mutation

Incidental Mutation 'R8171:Stxbp5l'

634157

Institutional Source

Beutler Lab

Gene Symbol

Stxbp5l

Ensembl Gene

ENSMUSG00000022829

Gene Name

syntaxin binding protein 5-like

Synonyms

insulin level locus 1, T2dm1, LLGL4, tomosyn-2, t2md1, A830015P08Rik

MMRRC Submission

067597-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8171 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36935304-37205324 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 37028416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 549 (T549I)

Ref Sequence

ENSEMBL: ENSMUSP00000023526 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023526] [ENSMUST00000114780] [ENSMUST00000114781] [ENSMUST00000114782] [ENSMUST00000114787]

AlphaFold

Q5DQR4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000023526
AA Change: T549I

SMART Domains

Protein: ENSMUSP00000023526
Gene: ENSMUSG00000022829
AA Change: T549I

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
WD40	58	97	1.1e2	SMART
WD40	99	138	6.66e-1	SMART
Blast:WD40	143	182	2e-20	BLAST
WD40	197	236	2.22e0	SMART
WD40	240	277	1.7e-2	SMART
Pfam:LLGL	284	396	7.6e-45	PFAM
WD40	397	476	7.7e-1	SMART
WD40	501	541	6.14e1	SMART
low complexity region	577	592	N/A	INTRINSIC
low complexity region	790	804	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114780
AA Change: T549I

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000110428
Gene: ENSMUSG00000022829
AA Change: T549I

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
WD40	58	97	1.1e2	SMART
WD40	99	138	6.66e-1	SMART
Blast:WD40	143	182	1e-20	BLAST
WD40	197	236	2.22e0	SMART
WD40	240	277	1.7e-2	SMART
Pfam:LLGL	284	396	8.6e-45	PFAM
WD40	397	476	7.7e-1	SMART
WD40	501	541	6.14e1	SMART
low complexity region	577	592	N/A	INTRINSIC
Pfam:Lgl_C	731	988	3e-9	PFAM
PDB:1URQ\|A	1038	1097	2e-25	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114781
AA Change: T549I

PolyPhen 2 Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110429
Gene: ENSMUSG00000022829
AA Change: T549I

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
WD40	58	97	1.1e2	SMART
WD40	99	138	6.66e-1	SMART
Blast:WD40	143	182	1e-20	BLAST
WD40	197	236	2.22e0	SMART
WD40	240	277	1.7e-2	SMART
Pfam:LLGL	284	396	8.9e-45	PFAM
WD40	397	476	7.7e-1	SMART
WD40	501	541	6.14e1	SMART
low complexity region	577	592	N/A	INTRINSIC
Pfam:Lgl_C	755	1012	3.1e-9	PFAM
PDB:1URQ\|A	1062	1121	2e-25	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114782
AA Change: T549I

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000110430
Gene: ENSMUSG00000022829
AA Change: T549I

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
WD40	58	97	1.1e2	SMART
WD40	99	138	6.66e-1	SMART
Blast:WD40	143	182	1e-20	BLAST
WD40	197	236	2.22e0	SMART
WD40	240	277	1.7e-2	SMART
Pfam:LLGL	284	396	9.2e-45	PFAM
WD40	397	476	7.7e-1	SMART
WD40	501	541	6.14e1	SMART
low complexity region	577	592	N/A	INTRINSIC
Pfam:Lgl_C	785	1045	3.1e-9	PFAM
PDB:1URQ\|A	1095	1154	2e-25	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000114787
AA Change: T549I

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000110435
Gene: ENSMUSG00000022829
AA Change: T549I

Domain	Start	End	E-Value	Type
low complexity region	16	40	N/A	INTRINSIC
WD40	58	97	1.1e2	SMART
WD40	99	138	6.66e-1	SMART
Blast:WD40	143	182	1e-20	BLAST
WD40	197	236	2.22e0	SMART
WD40	240	277	1.7e-2	SMART
Pfam:LLGL	287	396	8.7e-35	PFAM
WD40	397	476	7.7e-1	SMART
WD40	501	541	6.14e1	SMART
low complexity region	577	592	N/A	INTRINSIC
Pfam:Lgl_C	811	1069	3.3e-9	PFAM
PDB:1URQ\|A	1119	1178	2e-25	PDB

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to syntaxin-binding protein 5 and contains ten N-terminal WD40 repeats, four variable region WD40 repeats, and a C-terminal R-SNARE domain. Studies of the orthologous proteins in mouse and rat have shown that the encoded protein may inhibit exocytosis in neurosecretory cells, and may negatively regulate the secretion of insulin. A missense variant in this gene is likely the cause of an infantile-onset neurodegenerative disorder diagnosed in two siblings of consanguineous parents. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a QTL derived from BTBR exhibit increased fasting serum glucose and decreased fasting serum insulin. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	G	T	14: 32,383,982 (GRCm39)	A661E	probably benign	Het
Abhd14a	T	A	9: 106,317,960 (GRCm39)	T142S	probably benign	Het
Actn1	A	G	12: 80,243,167 (GRCm39)		probably null	Het
Adss2	T	C	1: 177,623,917 (GRCm39)	N15S	probably benign	Het
Alpk2	A	G	18: 65,439,054 (GRCm39)	S780P	probably benign	Het
Asap1	G	T	15: 63,982,815 (GRCm39)	L830M	probably damaging	Het
Atic	T	C	1: 71,609,032 (GRCm39)	V319A	possibly damaging	Het
Atp8a2	A	T	14: 60,283,493 (GRCm39)	I87N	probably damaging	Het
Bace2	G	T	16: 97,225,786 (GRCm39)	V407L	possibly damaging	Het
Bltp1	T	C	3: 37,029,862 (GRCm39)	V2423A	probably benign	Het
Bmp3	A	T	5: 99,020,528 (GRCm39)	Y317F	probably damaging	Het
Ccdc159	A	G	9: 21,845,007 (GRCm39)	E291G	possibly damaging	Het
Cct8l1	T	A	5: 25,721,552 (GRCm39)	L89Q	probably damaging	Het
Cep83	T	A	10: 94,604,797 (GRCm39)	N503K	possibly damaging	Het
Ces4a	A	G	8: 105,873,839 (GRCm39)	Y436C	probably damaging	Het
Cftr	T	A	6: 18,258,287 (GRCm39)	D579E	probably damaging	Het
Chd9	T	A	8: 91,752,015 (GRCm39)	V1751D	possibly damaging	Het
Clasp2	A	T	9: 113,732,974 (GRCm39)	T937S	possibly damaging	Het
Clock	T	A	5: 76,414,261 (GRCm39)	D17V	possibly damaging	Het
Cpm	T	C	10: 117,519,220 (GRCm39)	L376P	probably damaging	Het
Crocc2	T	C	1: 93,116,723 (GRCm39)		probably null	Het
Csnk1g2	A	G	10: 80,475,636 (GRCm39)	D401G	probably damaging	Het
Cyb5r4	C	T	9: 86,924,863 (GRCm39)	L206F	possibly damaging	Het
Cyp1a1	T	A	9: 57,607,479 (GRCm39)	W36R	probably benign	Het
Cyp3a59	A	T	5: 146,022,584 (GRCm39)	H30L	probably damaging	Het
Dab2	G	A	15: 6,453,407 (GRCm39)	V182I	probably benign	Het
Dnah1	G	T	14: 31,019,067 (GRCm39)	F1342L	probably damaging	Het
Draxin	A	T	4: 148,200,123 (GRCm39)	L109Q	possibly damaging	Het
Elfn1	G	A	5: 139,957,112 (GRCm39)	V39M	probably damaging	Het
Erlin1	A	G	19: 44,057,768 (GRCm39)	I19T	probably benign	Het
F830016B08Rik	T	A	18: 60,433,150 (GRCm39)	S78T	possibly damaging	Het
Fer1l4	A	G	2: 155,890,151 (GRCm39)	V258A	probably benign	Het
Fgb	T	C	3: 82,949,822 (GRCm39)	D445G	probably damaging	Het
Fgd6	T	C	10: 93,910,194 (GRCm39)		probably null	Het
Frem3	T	A	8: 81,341,869 (GRCm39)	D1387E	probably damaging	Het
Gdf3	T	C	6: 122,586,862 (GRCm39)	T22A	probably benign	Het
Glcci1	C	T	6: 8,593,167 (GRCm39)	A511V	probably benign	Het
Gldc	A	T	19: 30,111,161 (GRCm39)	N538K	probably benign	Het
Glipr1l1	C	T	10: 111,914,289 (GRCm39)	P217S	probably benign	Het
Gpr161	A	G	1: 165,134,005 (GRCm39)	N89S	probably damaging	Het
Gypa	T	A	8: 81,236,092 (GRCm39)	S166T	probably benign	Het
Hcar1	A	G	5: 124,017,152 (GRCm39)	S180P	probably damaging	Het
Hcn1	T	C	13: 117,739,270 (GRCm39)	S11P	unknown	Het
Hectd4	A	G	5: 121,456,819 (GRCm39)	E728G	possibly damaging	Het
Ints14	A	T	9: 64,880,532 (GRCm39)	H213L	possibly damaging	Het
Itih1	A	T	14: 30,659,047 (GRCm39)	M323K	possibly damaging	Het
Ivl	A	G	3: 92,479,085 (GRCm39)	S327P	probably damaging	Het
Kcnt2	T	A	1: 140,437,203 (GRCm39)	N545K	probably benign	Het
Kdm4b	A	T	17: 56,696,534 (GRCm39)	R417W	probably damaging	Het
Kif13a	T	C	13: 46,932,444 (GRCm39)	E1083G	probably damaging	Het
Klhl40	A	T	9: 121,607,623 (GRCm39)	H261L	probably benign	Het
Kpnb1	A	G	11: 97,066,573 (GRCm39)		probably null	Het
Lamc3	C	A	2: 31,804,983 (GRCm39)	T621N	probably benign	Het
Lingo3	T	C	10: 80,670,595 (GRCm39)	H445R	probably benign	Het
Ly75	G	A	2: 60,144,572 (GRCm39)	T1297I	possibly damaging	Het
Lypd6	C	T	2: 50,080,759 (GRCm39)	T149M	possibly damaging	Het
Mcrs1	A	T	15: 99,146,613 (GRCm39)	D139E	probably damaging	Het
Muc5b	G	A	7: 141,414,737 (GRCm39)	S2561N	unknown	Het
Mybpc1	C	T	10: 88,358,865 (GRCm39)	G1095R	probably damaging	Het
Myh1	A	G	11: 67,093,398 (GRCm39)	Y163C	probably damaging	Het
Notch4	T	A	17: 34,801,483 (GRCm39)	C1110*	probably null	Het
Nt5el	T	A	13: 105,246,291 (GRCm39)	V284E	probably benign	Het
Or12j2	A	T	7: 139,916,143 (GRCm39)	I123F	probably damaging	Het
Or2ag1	C	T	7: 106,313,825 (GRCm39)	S21N	probably benign	Het
Or2ag1	T	A	7: 106,313,826 (GRCm39)	S21C		Het
Or4c10b	A	G	2: 89,711,409 (GRCm39)	I80V	probably benign	Het
Pcsk1	T	A	13: 75,238,210 (GRCm39)	C10*	probably null	Het
Pdlim5	A	T	3: 142,017,948 (GRCm39)	S107T	probably benign	Het
Plac8l1	T	A	18: 42,313,445 (GRCm39)	D99V	probably damaging	Het
Plin2	A	T	4: 86,575,349 (GRCm39)	V400E	probably damaging	Het
Plxna1	G	A	6: 89,334,102 (GRCm39)	P176S	probably benign	Het
Pnn	A	G	12: 59,117,223 (GRCm39)	K238R	probably damaging	Het
Pou5f1	A	G	17: 35,820,933 (GRCm39)	E231G	probably benign	Het
Ppara	A	T	15: 85,682,077 (GRCm39)	M258L	probably benign	Het
Prune2	G	A	19: 17,097,882 (GRCm39)	D1129N	probably damaging	Het
Rai14	G	A	15: 10,633,249 (GRCm39)	T47M	probably damaging	Het
Rdh5	T	C	10: 128,753,969 (GRCm39)	I117V	probably benign	Het
Rpain	G	A	11: 70,864,724 (GRCm39)	C137Y	probably damaging	Het
Scn3a	A	G	2: 65,361,154 (GRCm39)	V126A	possibly damaging	Het
Senp7	G	T	16: 55,932,089 (GRCm39)	L129F	probably damaging	Het
Setd1a	A	G	7: 127,390,399 (GRCm39)	D1025G	unknown	Het
Sirt4	A	T	5: 115,621,082 (GRCm39)	V30E	probably damaging	Het
Slit1	C	A	19: 41,715,512 (GRCm39)	R113L	probably damaging	Het
Sytl2	A	G	7: 90,058,678 (GRCm39)	M926V	probably damaging	Het
Tgfbr2	C	T	9: 115,959,074 (GRCm39)	W113*	probably null	Het
Tmem86a	A	G	7: 46,703,512 (GRCm39)	Y213C	probably damaging	Het
Tpo	T	A	12: 30,154,045 (GRCm39)	Y220F	probably damaging	Het
Ttc6	C	A	12: 57,720,096 (GRCm39)	A889E	probably damaging	Het
Tyw1	A	G	5: 130,328,855 (GRCm39)	D547G	probably benign	Het
Ubtfl1	A	G	9: 18,320,523 (GRCm39)	K17R	probably benign	Het
Usp46	T	A	5: 74,163,354 (GRCm39)	I331F	probably benign	Het
Vmn2r111	T	C	17: 22,792,073 (GRCm39)	H61R	probably benign	Het
Wdr75	T	A	1: 45,861,706 (GRCm39)	N715K	probably benign	Het
Wdr97	C	A	15: 76,247,819 (GRCm39)	F1614L		Het
Zfp772	A	T	7: 7,207,096 (GRCm39)	C198*	probably null	Het

Other mutations in Stxbp5l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00836:Stxbp5l	APN	16	37,028,462 (GRCm39)	missense	possibly damaging	0.82
IGL01082:Stxbp5l	APN	16	37,024,940 (GRCm39)	missense	possibly damaging	0.89
IGL01448:Stxbp5l	APN	16	37,036,341 (GRCm39)	missense	probably damaging	0.99
IGL01475:Stxbp5l	APN	16	37,165,454 (GRCm39)	missense	possibly damaging	0.95
IGL01899:Stxbp5l	APN	16	37,020,954 (GRCm39)	missense	probably benign	0.19
IGL02232:Stxbp5l	APN	16	37,150,257 (GRCm39)	missense	probably damaging	1.00
IGL02389:Stxbp5l	APN	16	37,028,567 (GRCm39)	missense	probably benign	0.00
IGL02745:Stxbp5l	APN	16	37,007,016 (GRCm39)	nonsense	probably null
IGL03125:Stxbp5l	APN	16	37,007,083 (GRCm39)	missense	probably benign	0.02
R0058:Stxbp5l	UTSW	16	36,962,736 (GRCm39)	missense	possibly damaging	0.76
R0345:Stxbp5l	UTSW	16	37,108,670 (GRCm39)	missense	probably damaging	1.00
R0359:Stxbp5l	UTSW	16	37,036,440 (GRCm39)	splice site	probably benign
R0454:Stxbp5l	UTSW	16	36,954,646 (GRCm39)	missense	possibly damaging	0.94
R0525:Stxbp5l	UTSW	16	36,950,159 (GRCm39)	critical splice donor site	probably null
R0543:Stxbp5l	UTSW	16	37,028,458 (GRCm39)	missense	probably damaging	1.00
R0606:Stxbp5l	UTSW	16	37,024,883 (GRCm39)	missense	possibly damaging	0.46
R0607:Stxbp5l	UTSW	16	36,962,794 (GRCm39)	missense	probably benign	0.00
R1333:Stxbp5l	UTSW	16	37,068,231 (GRCm39)	critical splice donor site	probably null
R1593:Stxbp5l	UTSW	16	36,936,414 (GRCm39)	missense	probably damaging	0.96
R1605:Stxbp5l	UTSW	16	37,028,473 (GRCm39)	missense	probably benign	0.34
R1670:Stxbp5l	UTSW	16	37,111,289 (GRCm39)	critical splice donor site	probably null
R2077:Stxbp5l	UTSW	16	37,056,637 (GRCm39)	missense	possibly damaging	0.93
R2209:Stxbp5l	UTSW	16	37,036,398 (GRCm39)	missense	probably damaging	0.98
R2504:Stxbp5l	UTSW	16	36,936,029 (GRCm39)	missense	probably damaging	1.00
R2909:Stxbp5l	UTSW	16	37,028,548 (GRCm39)	missense	possibly damaging	0.89
R2917:Stxbp5l	UTSW	16	37,021,004 (GRCm39)	nonsense	probably null
R2918:Stxbp5l	UTSW	16	37,021,004 (GRCm39)	nonsense	probably null
R2935:Stxbp5l	UTSW	16	36,954,551 (GRCm39)	missense	possibly damaging	0.76
R3693:Stxbp5l	UTSW	16	37,061,708 (GRCm39)	nonsense	probably null
R3694:Stxbp5l	UTSW	16	37,061,708 (GRCm39)	nonsense	probably null
R3695:Stxbp5l	UTSW	16	37,061,708 (GRCm39)	nonsense	probably null
R4133:Stxbp5l	UTSW	16	37,028,481 (GRCm39)	missense	possibly damaging	0.80
R4180:Stxbp5l	UTSW	16	37,068,242 (GRCm39)	missense	probably benign	0.05
R4676:Stxbp5l	UTSW	16	37,076,246 (GRCm39)	missense	probably damaging	1.00
R4757:Stxbp5l	UTSW	16	37,008,996 (GRCm39)	missense	probably damaging	1.00
R4758:Stxbp5l	UTSW	16	36,954,592 (GRCm39)	missense	probably benign	0.18
R5105:Stxbp5l	UTSW	16	36,962,734 (GRCm39)	missense	probably benign	0.43
R5278:Stxbp5l	UTSW	16	37,007,016 (GRCm39)	missense	probably benign	0.19
R5358:Stxbp5l	UTSW	16	36,994,688 (GRCm39)	missense	probably damaging	0.99
R5411:Stxbp5l	UTSW	16	36,950,213 (GRCm39)	missense	probably damaging	1.00
R5773:Stxbp5l	UTSW	16	37,028,459 (GRCm39)	missense	probably damaging	1.00
R6539:Stxbp5l	UTSW	16	36,950,177 (GRCm39)	missense	probably damaging	1.00
R6869:Stxbp5l	UTSW	16	37,024,810 (GRCm39)	missense	possibly damaging	0.74
R6892:Stxbp5l	UTSW	16	37,008,991 (GRCm39)	missense	possibly damaging	0.94
R7369:Stxbp5l	UTSW	16	36,954,703 (GRCm39)	missense	probably benign	0.12
R7555:Stxbp5l	UTSW	16	37,143,965 (GRCm39)	missense	probably damaging	1.00
R7657:Stxbp5l	UTSW	16	37,030,534 (GRCm39)	missense	probably null	0.21
R8338:Stxbp5l	UTSW	16	36,994,718 (GRCm39)	missense	probably damaging	1.00
R8732:Stxbp5l	UTSW	16	37,061,809 (GRCm39)	missense	probably benign
R8833:Stxbp5l	UTSW	16	37,024,814 (GRCm39)	missense	probably benign	0.44
R8883:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R8898:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R8899:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R8906:Stxbp5l	UTSW	16	37,028,526 (GRCm39)	missense	probably damaging	1.00
R8918:Stxbp5l	UTSW	16	36,954,892 (GRCm39)	missense
R8959:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R8961:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R8989:Stxbp5l	UTSW	16	37,036,414 (GRCm39)	frame shift	probably null
R9027:Stxbp5l	UTSW	16	37,165,473 (GRCm39)	missense	probably damaging	1.00
R9044:Stxbp5l	UTSW	16	37,024,930 (GRCm39)	missense	possibly damaging	0.77
R9226:Stxbp5l	UTSW	16	37,076,206 (GRCm39)	missense	probably damaging	0.96
R9284:Stxbp5l	UTSW	16	37,028,442 (GRCm39)	nonsense	probably null
R9351:Stxbp5l	UTSW	16	36,936,047 (GRCm39)	missense	probably damaging	1.00
R9425:Stxbp5l	UTSW	16	36,994,706 (GRCm39)	missense	possibly damaging	0.83
R9545:Stxbp5l	UTSW	16	37,028,625 (GRCm39)	critical splice acceptor site	probably null
R9567:Stxbp5l	UTSW	16	37,061,734 (GRCm39)	missense	probably benign	0.37
R9616:Stxbp5l	UTSW	16	37,036,314 (GRCm39)	missense	probably damaging	1.00
R9781:Stxbp5l	UTSW	16	37,165,485 (GRCm39)	missense	probably benign	0.38
Z1088:Stxbp5l	UTSW	16	37,024,851 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACATTGAACTTTTGTTAGAGAACT -3'
(R):5'- CTTCCAAAGTGTTTGAAAAGCAGAAGG -3'

Sequencing Primer
(F):5'- CAGGGCCACTTGAGTCTATATGC -3'
(R):5'- GCAGGAGAAGGCAAACAGAC -3'

Posted On

2020-07-13