Mutagenetix > Incidental Mutation

Incidental Mutation 'R9523:Stxbp3'

718999

Institutional Source

Beutler Lab

Gene Symbol

Stxbp3

Ensembl Gene

ENSMUSG00000027882

Gene Name

syntaxin binding protein 3

Synonyms

Stxbp3, Stxbp3a, Munc-18c

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9523 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

108700496-108747818 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 108747756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 10 (L10P)

Ref Sequence

ENSEMBL: ENSMUSP00000099681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102621] [ENSMUST00000106596] [ENSMUST00000138552]

AlphaFold

Q60770

PDB Structure

Re-refinement of the crystal structure of Munc18-3 and Syntaxin4 N-peptide complex [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000102621
AA Change: L10P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099681
Gene: ENSMUSG00000027882
AA Change: L10P

Domain	Start	End	E-Value	Type
Pfam:Sec1	33	576	5.9e-107	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106596
AA Change: L10P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000102206
Gene: ENSMUSG00000027882
AA Change: L10P

Domain	Start	End	E-Value	Type
Pfam:Sec1	32	93	3.5e-20	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000138552
AA Change: L10P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000142860
Gene: ENSMUSG00000027882
AA Change: L10P

Domain	Start	End	E-Value	Type
Pfam:Sec1	32	114	2e-17	PFAM

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mice display embryonic or perinatal lethality with reduced embryonic growth and malformation of the intermediate zone of the cerebral cortex. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028K03Rik	A	G	5: 107,687,057 (GRCm39)	T15A	possibly damaging	Het
2010315B03Rik	G	T	9: 124,056,652 (GRCm39)	Q91K		Het
2210408I21Rik	A	G	13: 77,407,988 (GRCm39)	N419S	possibly damaging	Het
Abhd2	A	G	7: 78,998,020 (GRCm39)	E184G	probably damaging	Het
Adgrg3	T	C	8: 95,766,186 (GRCm39)	I339T	probably benign	Het
Adgrv1	C	T	13: 81,567,178 (GRCm39)	A5332T		Het
Akap13	T	C	7: 75,293,193 (GRCm39)	V42A		Het
Akap6	A	G	12: 52,842,672 (GRCm39)	T7A	probably benign	Het
Apob	A	T	12: 8,052,069 (GRCm39)	D1170V	probably damaging	Het
Atad1	A	G	19: 32,684,323 (GRCm39)	I25T	possibly damaging	Het
Atp4b	G	T	8: 13,436,746 (GRCm39)	N255K	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Bpnt1	T	A	1: 185,077,584 (GRCm39)	C100S	probably damaging	Het
C1rl	C	T	6: 124,484,054 (GRCm39)	L203F	probably benign	Het
Clasp2	T	A	9: 113,705,372 (GRCm39)	V576D	probably damaging	Het
Col8a2	A	G	4: 126,205,273 (GRCm39)	T428A	unknown	Het
Copg2	T	A	6: 30,749,505 (GRCm39)		probably null	Het
Cpn2	C	T	16: 30,078,759 (GRCm39)	R314H	possibly damaging	Het
Cpt2	G	A	4: 107,764,354 (GRCm39)	A470V	probably damaging	Het
Cyp2a4	C	T	7: 26,011,688 (GRCm39)	T303I	probably damaging	Het
Ddx42	A	G	11: 106,132,606 (GRCm39)	D543G	probably benign	Het
Dip2a	T	C	10: 76,112,438 (GRCm39)	T1087A	probably damaging	Het
Fam219b	T	C	9: 57,444,919 (GRCm39)	F6L	probably benign	Het
Fsip2	G	T	2: 82,807,972 (GRCm39)	L1430F	probably damaging	Het
Fstl4	A	G	11: 53,075,466 (GRCm39)	I573V	probably benign	Het
Ggnbp2	A	T	11: 84,745,188 (GRCm39)	S182R	probably benign	Het
Glud1	A	G	14: 34,061,931 (GRCm39)	T484A	probably benign	Het
Gm19410	A	G	8: 36,257,608 (GRCm39)	N682S	probably benign	Het
Gnao1	T	C	8: 94,622,861 (GRCm39)	I55T		Het
H2bc15	G	T	13: 21,938,305 (GRCm39)	A5S	unknown	Het
Hcn4	C	T	9: 58,766,809 (GRCm39)	S790L	unknown	Het
Ighv3-4	T	C	12: 114,217,393 (GRCm39)	E66G	probably damaging	Het
Igkv6-23	A	G	6: 70,237,526 (GRCm39)	S72P	probably damaging	Het
Kdm7a	A	C	6: 39,147,767 (GRCm39)	Y213D	probably damaging	Het
Klk15	T	G	7: 43,587,770 (GRCm39)	M66R	possibly damaging	Het
Lce1d	T	A	3: 92,593,363 (GRCm39)	T17S	unknown	Het
Lipt1	T	C	1: 37,914,534 (GRCm39)	Y197H	probably damaging	Het
Lrp1b	A	T	2: 41,660,978 (GRCm39)	D157E		Het
Ltbp1	A	G	17: 75,697,498 (GRCm39)	T1697A	probably benign	Het
Marchf6	T	C	15: 31,498,845 (GRCm39)	T151A	probably benign	Het
Muc5b	G	A	7: 141,396,116 (GRCm39)	R124H	unknown	Het
Myo5b	A	G	18: 74,861,968 (GRCm39)	N1320S	possibly damaging	Het
Myt1l	T	A	12: 29,877,611 (GRCm39)	S421T	unknown	Het
Nav1	A	T	1: 135,379,929 (GRCm39)	M1531K	unknown	Het
Nlrp4e	A	G	7: 23,054,636 (GRCm39)	D930G	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or51a6	A	G	7: 102,604,464 (GRCm39)	S115P	probably damaging	Het
Or5b112	G	T	19: 13,319,848 (GRCm39)	C242F	probably damaging	Het
Or5b120	A	T	19: 13,479,712 (GRCm39)	M2L	probably benign	Het
Or5d47	A	T	2: 87,804,945 (GRCm39)	Y21*	probably null	Het
Or6k14	A	T	1: 173,927,608 (GRCm39)	I195F	probably damaging	Het
Or7g30	G	A	9: 19,352,580 (GRCm39)	V124I	possibly damaging	Het
Oxct2b	A	T	4: 123,011,483 (GRCm39)	I468F	probably damaging	Het
Pcdhgb7	T	A	18: 37,886,636 (GRCm39)	L602Q	probably damaging	Het
Prrc2c	A	G	1: 162,525,298 (GRCm39)	V1862A	unknown	Het
Rad54l2	C	T	9: 106,573,151 (GRCm39)	R1110H	probably damaging	Het
Rere	T	A	4: 150,703,636 (GRCm39)	H180Q	probably damaging	Het
Rtl1	C	T	12: 109,561,113 (GRCm39)	R242Q	unknown	Het
Sfxn4	T	C	19: 60,845,807 (GRCm39)	D63G	probably damaging	Het
Strn	C	T	17: 78,967,575 (GRCm39)	A579T	probably benign	Het
Swi5	T	C	2: 32,170,739 (GRCm39)	M95V	possibly damaging	Het
Tln2	T	C	9: 67,165,766 (GRCm39)	Y1027C	probably damaging	Het
Tmem65	A	G	15: 58,662,002 (GRCm39)		probably null	Het
Tox4	C	T	14: 52,529,166 (GRCm39)	P376S	probably benign	Het
Tsg101	C	T	7: 46,542,308 (GRCm39)	G215D	possibly damaging	Het
Utp18	A	G	11: 93,768,833 (GRCm39)	S226P	probably damaging	Het
Vipr2	T	C	12: 116,093,788 (GRCm39)	S174P	probably damaging	Het
Vmn2r24	G	T	6: 123,763,950 (GRCm39)	V276F	possibly damaging	Het
Wdr26	T	C	1: 181,013,620 (GRCm39)	R418G	probably benign	Het
Zfp235	T	C	7: 23,840,381 (GRCm39)	Y267H	probably benign	Het

Other mutations in Stxbp3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00805:Stxbp3	APN	3	108,723,667 (GRCm39)	missense	probably benign	0.05
IGL01370:Stxbp3	APN	3	108,704,741 (GRCm39)	nonsense	probably null
IGL01810:Stxbp3	APN	3	108,707,468 (GRCm39)	missense	probably benign	0.35
IGL02583:Stxbp3	APN	3	108,708,187 (GRCm39)	missense	probably damaging	1.00
IGL02827:Stxbp3	APN	3	108,717,211 (GRCm39)	missense	probably damaging	1.00
IGL03022:Stxbp3	APN	3	108,708,072 (GRCm39)	missense	probably damaging	1.00
IGL03198:Stxbp3	APN	3	108,734,405 (GRCm39)	missense	probably damaging	0.96
IGL03410:Stxbp3	APN	3	108,709,476 (GRCm39)	missense	probably damaging	1.00
G1patch:Stxbp3	UTSW	3	108,734,916 (GRCm39)	missense	possibly damaging	0.47
R0666:Stxbp3	UTSW	3	108,712,618 (GRCm39)	missense	possibly damaging	0.49
R3887:Stxbp3	UTSW	3	108,712,549 (GRCm39)	splice site	probably null
R4128:Stxbp3	UTSW	3	108,702,147 (GRCm39)	missense	probably benign	0.03
R4683:Stxbp3	UTSW	3	108,708,188 (GRCm39)	missense	probably damaging	1.00
R5106:Stxbp3	UTSW	3	108,702,243 (GRCm39)	missense	probably benign	0.01
R5307:Stxbp3	UTSW	3	108,701,114 (GRCm39)	missense	probably damaging	1.00
R6643:Stxbp3	UTSW	3	108,701,150 (GRCm39)	missense	probably damaging	1.00
R6722:Stxbp3	UTSW	3	108,723,762 (GRCm39)	missense	probably benign	0.03
R6725:Stxbp3	UTSW	3	108,734,916 (GRCm39)	missense	possibly damaging	0.47
R7110:Stxbp3	UTSW	3	108,723,649 (GRCm39)	missense	probably damaging	1.00
R7135:Stxbp3	UTSW	3	108,708,071 (GRCm39)	missense	probably damaging	1.00
R7231:Stxbp3	UTSW	3	108,708,125 (GRCm39)	missense	probably damaging	1.00
R7769:Stxbp3	UTSW	3	108,708,144 (GRCm39)	missense	probably benign
R8688:Stxbp3	UTSW	3	108,709,425 (GRCm39)	critical splice donor site	probably benign
R9048:Stxbp3	UTSW	3	108,723,704 (GRCm39)	missense	probably benign	0.33
R9503:Stxbp3	UTSW	3	108,710,911 (GRCm39)	missense	probably damaging	1.00
X0020:Stxbp3	UTSW	3	108,701,163 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTGCGGAAGAACCTCACC -3'
(R):5'- TAGTTGATGCGCGTGACGTC -3'

Sequencing Primer
(F):5'- GAAACCCGACTCTGGGCAAG -3'
(R):5'- TGACGTCACCTGAGGGC -3'

Posted On

2022-07-18