Mutagenetix > Incidental Mutation

Incidental Mutation 'R6802:Sgtb'

533397

Institutional Source

Beutler Lab

Gene Symbol

Sgtb

Ensembl Gene

ENSMUSG00000042743

Gene Name

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

Synonyms

C630001O05Rik

MMRRC Submission

044915-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.667) question?

Stock #

R6802 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104246249-104278243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 104268558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 198 (Q198L)

Ref Sequence

ENSEMBL: ENSMUSP00000041307 (fasta)

Gene Model

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

AlphaFold

Q8VD33

Predicted Effect

probably benign
Transcript: ENSMUST00000044385
AA Change: Q198L

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000041307
Gene: ENSMUSG00000042743
AA Change: Q198L

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: ENSMUST00000159574
AA Change: Q155L

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124895
Gene: ENSMUSG00000042743
AA Change: Q155L

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

SMART Domains

Protein: ENSMUSP00000125569
Gene: ENSMUSG00000042743

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (54/54)

Allele List at MGI

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

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110004F10Rik	A	T	7: 115,698,725 (GRCm39)	K38N	probably damaging	Het
Agap3	T	A	5: 24,692,791 (GRCm39)	I408N	possibly damaging	Het
Apold1	G	A	6: 134,960,693 (GRCm39)	R49H	probably damaging	Het
Arfgef1	A	T	1: 10,259,677 (GRCm39)	M597K	probably benign	Het
Bsn	C	T	9: 107,987,823 (GRCm39)		probably benign	Het
Ccdc177	A	T	12: 80,806,057 (GRCm39)	D72E	probably damaging	Het
Coa8	G	T	12: 111,717,625 (GRCm39)	G162W	probably benign	Het
Ctdp1	A	T	18: 80,463,656 (GRCm39)		probably null	Het
Ctsj	A	T	13: 61,150,888 (GRCm39)	L190M	probably benign	Het
Dhx57	A	G	17: 80,582,750 (GRCm39)	F285S	probably benign	Het
Dnah2	A	T	11: 69,314,516 (GRCm39)	V4051E	probably damaging	Het
F5	A	T	1: 164,006,925 (GRCm39)	D243V	probably damaging	Het
Fat3	C	T	9: 15,826,357 (GRCm39)	E4532K	possibly damaging	Het
Fbxo30	G	T	10: 11,167,224 (GRCm39)	G649C	probably damaging	Het
Focad	T	C	4: 88,192,440 (GRCm39)	S590P	unknown	Het
Focad	G	A	4: 88,262,921 (GRCm39)	V973I	unknown	Het
Glb1l3	T	C	9: 26,770,648 (GRCm39)		probably null	Het
Gli2	G	A	1: 118,769,795 (GRCm39)	R586C	probably damaging	Het
Gm6401	T	A	14: 41,788,874 (GRCm39)	E65V	probably damaging	Het
Gml2	T	A	15: 74,696,095 (GRCm39)	L163H	probably damaging	Het
Grm6	A	T	11: 50,744,216 (GRCm39)	Q229L	probably benign	Het
Gtf2h2	T	C	13: 100,617,051 (GRCm39)	M252V	probably benign	Het
Hsf4	G	A	8: 106,001,300 (GRCm39)	G309S	probably damaging	Het
Iglc1	T	C	16: 18,880,660 (GRCm39)		probably benign	Het
Irgq	A	G	7: 24,231,076 (GRCm39)	E89G	probably benign	Het
Kcnj6	T	C	16: 94,563,436 (GRCm39)	N354S	probably benign	Het
Lrguk	A	G	6: 34,039,392 (GRCm39)	H301R	probably damaging	Het
Mc4r	C	A	18: 66,992,488 (GRCm39)	M208I	probably benign	Het
Mrpl15	A	G	1: 4,846,953 (GRCm39)	S208P	probably benign	Het
Neil2	A	G	14: 63,429,263 (GRCm39)	F10S	probably damaging	Het
Nrg1	T	C	8: 32,311,292 (GRCm39)	R476G	probably damaging	Het
Or12k7	A	G	2: 36,958,427 (GRCm39)	M37V	probably benign	Het
Or4c100	A	G	2: 88,355,941 (GRCm39)	T5A	probably benign	Het
Or8k22	G	T	2: 86,163,529 (GRCm39)	T57K	possibly damaging	Het
Pacs1	T	C	19: 5,202,812 (GRCm39)	I357V	probably damaging	Het
Pla2g15	T	C	8: 106,877,213 (GRCm39)	L32P	probably damaging	Het
Pms1	A	T	1: 53,245,951 (GRCm39)	S529R	probably benign	Het
Prkra	A	T	2: 76,463,881 (GRCm39)	D260E	probably damaging	Het
Qsox1	A	C	1: 155,671,139 (GRCm39)	F127V	probably damaging	Het
Rabgap1l	A	T	1: 160,561,250 (GRCm39)	V161E	probably benign	Het
Robo1	T	G	16: 72,730,201 (GRCm39)	V214G	probably benign	Het
Ryr2	G	A	13: 11,701,852 (GRCm39)	A2935V	probably damaging	Het
Slc39a12	C	T	2: 14,424,896 (GRCm39)	L376F	probably benign	Het
Socs1	C	A	16: 10,602,222 (GRCm39)	V172L	probably benign	Het
Sprr2k	A	G	3: 92,340,671 (GRCm39)		probably benign	Het
Tgm1	C	T	14: 55,949,939 (GRCm39)		probably benign	Het
Tph2	A	T	10: 115,020,778 (GRCm39)	M6K	probably damaging	Het
Trav16	T	A	14: 53,980,941 (GRCm39)	C43*	probably null	Het
Ttll5	A	G	12: 85,926,160 (GRCm39)	E318G	probably damaging	Het
Vmn2r90	T	A	17: 17,932,351 (GRCm39)	I86N	probably damaging	Het
Zdhhc19	T	C	16: 32,325,176 (GRCm39)	S165P	possibly damaging	Het
Zfp352	A	T	4: 90,113,437 (GRCm39)	T526S	probably benign	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
R6887:Sgtb	UTSW	13	104,247,659 (GRCm39)	missense	probably benign	0.00
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'- TGAAGCTTACAGGATCTTGGAG -3'
(R):5'- AGGCCGGGTTATTTATCAAGC -3'

Sequencing Primer
(F):5'- AATGCTAGGTCCCTGAATGC -3'
(R):5'- CCGGGTTATTTATCAAGCTAGCCATG -3'

Posted On

2018-09-12