Mutagenetix > Incidental Mutation

Incidental Mutation 'R6887:Sgtb'

537008

Institutional Source

Beutler Lab

Gene Symbol

Sgtb

Ensembl Gene

ENSMUSG00000042743

Gene Name

small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta

Synonyms

C630001O05Rik

MMRRC Submission

044981-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

R6887 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104246249-104278243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 104247659 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 13 (W13R)

Ref Sequence

ENSEMBL: ENSMUSP00000124895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044385] [ENSMUST00000109315] [ENSMUST00000159574] [ENSMUST00000160322] [ENSMUST00000224945]

AlphaFold

Q8VD33

Predicted Effect

probably benign
Transcript: ENSMUST00000044385
AA Change: M21T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041307
Gene: ENSMUSG00000042743
AA Change: M21T

Domain	Start	End	E-Value	Type
Pfam:SGTA_dimer	3	64	2.4e-19	PFAM
TPR	85	118	9.45e-6	SMART
TPR	119	152	1.01e-5	SMART
TPR	153	186	3.21e-8	SMART
Blast:STI1	213	254	5e-9	BLAST
low complexity region	266	279	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109315

SMART Domains

Protein: ENSMUSP00000104938
Gene: ENSMUSG00000021710

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M3	251	701	1.8e-158	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159574
AA Change: W13R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124895
Gene: ENSMUSG00000042743
AA Change: W13R

Domain	Start	End	E-Value	Type
TPR	42	75	9.45e-6	SMART
TPR	76	109	1.01e-5	SMART
TPR	110	143	3.21e-8	SMART
Blast:STI1	170	207	5e-9	BLAST
low complexity region	223	236	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160322
AA Change: M21T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000125569
Gene: ENSMUSG00000042743
AA Change: M21T

Domain	Start	End	E-Value	Type
PDB:4GOF\|B	5	54	4e-11	PDB
Pfam:TPR_11	83	150	5e-23	PFAM
Pfam:TPR_1	85	118	1e-8	PFAM
Pfam:TPR_2	85	118	2.1e-8	PFAM
Pfam:TPR_7	92	120	1.3e-4	PFAM
Pfam:TPR_9	93	157	2.2e-5	PFAM
Pfam:TPR_17	107	140	7.2e-8	PFAM
Pfam:TPR_1	119	152	6.5e-9	PFAM
Pfam:TPR_2	119	152	3.4e-5	PFAM
Pfam:TPR_11	131	176	2.6e-8	PFAM
Pfam:TPR_1	153	176	1.1e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000224945

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

100% (39/39)

Allele List at MGI

All alleles(7) : Targeted(3) Gene trapped(4)

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	A	7: 78,742,231 (GRCm39)	V543I	probably damaging	Het
Adcy5	A	G	16: 35,118,960 (GRCm39)	I1104V	possibly damaging	Het
Adgrl4	A	T	3: 151,248,370 (GRCm39)	I681F	possibly damaging	Het
Adgrv1	T	A	13: 81,676,820 (GRCm39)	M2004L	probably benign	Het
Anapc1	A	G	2: 128,501,688 (GRCm39)	S785P	possibly damaging	Het
Ap3d1	A	T	10: 80,559,532 (GRCm39)	I242N	probably damaging	Het
Arhgap5	T	C	12: 52,565,927 (GRCm39)	L966P	probably benign	Het
Atp8a1	T	C	5: 67,895,794 (GRCm39)	T547A	probably benign	Het
Cadps	A	G	14: 12,505,811 (GRCm38)	F753S	probably damaging	Het
Cdc20b	T	C	13: 113,215,187 (GRCm39)	S252P	possibly damaging	Het
Cep63	A	G	9: 102,503,126 (GRCm39)		probably benign	Het
Chrna5	G	T	9: 54,912,417 (GRCm39)	V302L	probably benign	Het
Crtc2	A	G	3: 90,168,378 (GRCm39)	T374A	probably damaging	Het
Dmtf1	T	G	5: 9,187,149 (GRCm39)	D140A	probably damaging	Het
Exosc8	C	T	3: 54,641,120 (GRCm39)	V39M	probably damaging	Het
Fam135b	A	C	15: 71,335,164 (GRCm39)	S677A	probably damaging	Het
Hif1an	T	C	19: 44,551,828 (GRCm39)	Y93H	probably damaging	Het
Hrc	T	C	7: 44,985,088 (GRCm39)	F80L	probably benign	Het
Jmjd1c	A	G	10: 67,025,599 (GRCm39)	T139A	possibly damaging	Het
Kdr	T	G	5: 76,129,111 (GRCm39)	R178S	probably benign	Het
Lrrc61	A	C	6: 48,545,366 (GRCm39)	N63T	probably damaging	Het
Mrc1	C	T	2: 14,330,048 (GRCm39)	A1219V	possibly damaging	Het
Neto1	T	C	18: 86,516,760 (GRCm39)	V359A	probably benign	Het
Ngly1	T	C	14: 16,281,836 (GRCm38)	I364T	probably benign	Het
Nisch	C	T	14: 30,907,301 (GRCm39)		probably benign	Het
Or2y8	C	A	11: 52,036,179 (GRCm39)	M59I	probably benign	Het
Prrc2a	T	C	17: 35,374,651 (GRCm39)	D1333G	probably damaging	Het
Raly	G	T	2: 154,703,830 (GRCm39)	V134F	probably damaging	Het
Rbm6	T	C	9: 107,729,430 (GRCm39)	Y406C	probably damaging	Het
Robo4	G	C	9: 37,313,363 (GRCm39)	E6Q	possibly damaging	Het
Scnn1g	C	A	7: 121,359,667 (GRCm39)	S383R	probably benign	Het
Slit3	T	C	11: 35,435,633 (GRCm39)		probably null	Het
Tbc1d32	G	A	10: 56,027,907 (GRCm39)	Q732*	probably null	Het
Tek	T	A	4: 94,693,181 (GRCm39)	C247S	probably damaging	Het
Tmf1	A	T	6: 97,153,799 (GRCm39)	D91E	probably damaging	Het
Usp39	A	G	6: 72,310,140 (GRCm39)	L326P	probably damaging	Het
Vmn2r7	A	T	3: 64,598,248 (GRCm39)	C770S	probably damaging	Het
Wdr31	C	T	4: 62,375,802 (GRCm39)	G58R	probably benign	Het
Zfyve26	A	G	12: 79,313,223 (GRCm39)	I54T	probably damaging	Het

Other mutations in Sgtb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02619:Sgtb	APN	13	104,254,922 (GRCm39)	missense	probably benign	0.00
IGL03225:Sgtb	APN	13	104,268,453 (GRCm39)	missense	probably damaging	1.00
P0008:Sgtb	UTSW	13	104,260,782 (GRCm39)	missense	probably damaging	1.00
R0044:Sgtb	UTSW	13	104,265,768 (GRCm39)	missense	probably benign	0.00
R1556:Sgtb	UTSW	13	104,276,284 (GRCm39)	missense	probably damaging	1.00
R2143:Sgtb	UTSW	13	104,260,767 (GRCm39)	missense	probably damaging	1.00
R6802:Sgtb	UTSW	13	104,268,558 (GRCm39)	missense	probably benign	0.04
R7086:Sgtb	UTSW	13	104,254,924 (GRCm39)	missense	possibly damaging	0.68
R8263:Sgtb	UTSW	13	104,268,692 (GRCm39)	missense	probably benign	0.00
R8881:Sgtb	UTSW	13	104,258,046 (GRCm39)	critical splice donor site	probably null
R9314:Sgtb	UTSW	13	104,254,933 (GRCm39)	missense	possibly damaging	0.88
R9472:Sgtb	UTSW	13	104,247,681 (GRCm39)	missense	probably benign	0.09
X0014:Sgtb	UTSW	13	104,268,477 (GRCm39)	missense	probably damaging	1.00
X0014:Sgtb	UTSW	13	104,268,476 (GRCm39)	nonsense	probably null
Z1088:Sgtb	UTSW	13	104,268,447 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTTTCTGGACCCTTTAAAGAGAG -3'
(R):5'- AGCCGTTCTGCTGCTTAAAC -3'

Sequencing Primer
(F):5'- TTCTGGACCCTTTAAAGAGAGAAAAG -3'
(R):5'- TGTTCCCATGATGAAAAACTTCCC -3'

Posted On

2018-10-18