Mutagenetix > Incidental Mutation

Incidental Mutation 'R8881:Sgtb'

676943

Institutional Source

Beutler Lab

Gene Symbol

Sgtb

Ensembl Gene

ENSMUSG00000042743

Gene Name

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

Synonyms

C630001O05Rik

MMRRC Submission

068749-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R8881 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

104246249-104278243 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 104258046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041307 (fasta)

Gene Model

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

AlphaFold

Q8VD33

Predicted Effect

probably null
Transcript: ENSMUST00000044385

SMART Domains

Protein: ENSMUSP00000041307
Gene: ENSMUSG00000042743

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

SMART Domains

Protein: ENSMUSP00000124895
Gene: ENSMUSG00000042743

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

100% (69/69)

Allele List at MGI

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

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	G	A	7: 120,074,794 (GRCm39)	C612Y	probably benign	Het
Adam21	T	C	12: 81,606,650 (GRCm39)	T371A	probably benign	Het
Akap9	T	C	5: 4,011,279 (GRCm39)	S661P		Het
Anxa11	C	T	14: 25,874,687 (GRCm39)	R233C	probably damaging	Het
Capza3	A	C	6: 139,987,521 (GRCm39)	D40A	probably damaging	Het
Caskin1	C	A	17: 24,718,273 (GRCm39)	N294K	probably damaging	Het
Cdh1	T	C	8: 107,392,904 (GRCm39)	V796A	probably benign	Het
Cfap251	C	T	5: 123,462,438 (GRCm39)	P1249L	probably damaging	Het
Cped1	A	T	6: 22,119,578 (GRCm39)	T346S	possibly damaging	Het
Crisp4	A	T	1: 18,185,902 (GRCm39)	V278D	probably damaging	Het
Ddx60	A	C	8: 62,474,343 (GRCm39)	D1477A	possibly damaging	Het
Dmrtb1	T	C	4: 107,537,922 (GRCm39)	D82G	possibly damaging	Het
Dnah11	T	C	12: 118,077,647 (GRCm39)	N1282S	probably benign	Het
Dnah11	C	T	12: 118,090,550 (GRCm39)	V1104M	probably benign	Het
Dot1l	A	G	10: 80,621,429 (GRCm39)	E630G	probably damaging	Het
Dppa4	C	A	16: 48,108,299 (GRCm39)	T28K		Het
Dusp5	T	A	19: 53,529,745 (GRCm39)	S383T	probably benign	Het
Eef2k	C	T	7: 120,472,548 (GRCm39)	A87V	probably damaging	Het
Epha1	T	C	6: 42,337,961 (GRCm39)	Y828C	probably damaging	Het
Erbb4	A	C	1: 68,382,997 (GRCm39)		probably null	Het
Fam151b	T	A	13: 92,604,630 (GRCm39)	M120L	probably benign	Het
Fam237b	A	C	5: 5,625,379 (GRCm39)	D25A	possibly damaging	Het
Fez2	T	C	17: 78,689,051 (GRCm39)	D366G	probably damaging	Het
Frmd4b	G	T	6: 97,272,735 (GRCm39)	H886N	probably benign	Het
Galnt17	T	C	5: 130,906,635 (GRCm39)	H511R	probably benign	Het
Grpel1	C	A	5: 36,626,816 (GRCm39)	Q33K	possibly damaging	Het
Gzmm	A	C	10: 79,530,819 (GRCm39)		probably null	Het
Hmcn1	C	A	1: 150,525,723 (GRCm39)	L3333F	probably damaging	Het
Il21r	A	T	7: 125,231,498 (GRCm39)	T309S	probably benign	Het
Itgal	G	A	7: 126,929,541 (GRCm39)	V1153M	probably benign	Het
Kdf1	G	A	4: 133,257,654 (GRCm39)	A390T	possibly damaging	Het
Lcn11	G	T	2: 25,669,296 (GRCm39)	R151L	probably benign	Het
Lgi3	T	A	14: 70,770,282 (GRCm39)	Y116N	probably damaging	Het
Llgl2	A	G	11: 115,743,866 (GRCm39)	H731R	probably benign	Het
Lrp5	A	T	19: 3,641,015 (GRCm39)	S1482T	probably damaging	Het
Meis2	T	C	2: 115,889,116 (GRCm39)	D212G	probably benign	Het
Mrgpra9	A	G	7: 46,885,242 (GRCm39)	C142R	possibly damaging	Het
Mrgprf	A	G	7: 144,861,999 (GRCm39)	H187R	probably benign	Het
Mvd	A	G	8: 123,164,564 (GRCm39)		probably null	Het
Neb	T	C	2: 52,096,999 (GRCm39)	I4938M	possibly damaging	Het
Nipal4	A	T	11: 46,042,177 (GRCm39)	M168K	probably benign	Het
Nr1h4	A	G	10: 89,319,351 (GRCm39)	Y158H	probably damaging	Het
Nrxn2	T	C	19: 6,554,920 (GRCm39)	I1133T	probably benign	Het
Numa1	T	C	7: 101,650,684 (GRCm39)	Y1472H	probably benign	Het
Or10ak8	A	G	4: 118,774,571 (GRCm39)	V31A	probably benign	Het
Or12j3	A	G	7: 139,952,698 (GRCm39)	V275A	probably benign	Het
Or2y10	G	A	11: 49,455,209 (GRCm39)	V154M	probably benign	Het
Or3a1d	T	C	11: 74,237,471 (GRCm39)	D313G	probably benign	Het
Or52h7	A	G	7: 104,213,619 (GRCm39)	M64V	possibly damaging	Het
Pate7	T	A	9: 35,689,384 (GRCm39)		probably benign	Het
Pcdha6	G	T	18: 37,101,484 (GRCm39)	V226F	probably damaging	Het
Pnpla6	G	A	8: 3,581,489 (GRCm39)	M605I	probably benign	Het
Ppp1r13l	G	A	7: 19,105,194 (GRCm39)	R322H	probably damaging	Het
Skint6	T	C	4: 112,672,716 (GRCm39)	K1086E	possibly damaging	Het
Slc4a11	T	C	2: 130,527,457 (GRCm39)	E646G	probably damaging	Het
Speg	G	T	1: 75,377,795 (GRCm39)	R851L	possibly damaging	Het
Spns3	T	G	11: 72,429,912 (GRCm39)	D172A	probably damaging	Het
Srgap3	A	G	6: 112,700,098 (GRCm39)	V984A	probably benign	Het
Syne1	A	T	10: 5,223,639 (GRCm39)	D3080E	probably damaging	Het
Taf5l	T	C	8: 124,730,101 (GRCm39)	H196R	possibly damaging	Het
Tmem229a	G	C	6: 24,955,587 (GRCm39)	R56G	probably damaging	Het
Tmprss6	A	C	15: 78,327,987 (GRCm39)	*582G	probably null	Het
Trip13	C	A	13: 74,077,795 (GRCm39)	R173L	possibly damaging	Het
Trpm7	A	T	2: 126,661,883 (GRCm39)	V1055E	probably damaging	Het
Utrn	A	G	10: 12,423,737 (GRCm39)	I2T	possibly damaging	Het
V1rd19	T	A	7: 23,703,081 (GRCm39)	S182R	possibly damaging	Het
Vmn2r58	C	A	7: 41,486,609 (GRCm39)	G762V	probably benign	Het
Zfp874b	T	C	13: 67,622,141 (GRCm39)	K386E	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
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
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'- GTGAGTTGCCGAAACGTGTG -3'
(R):5'- CAAGCAGAGTTCAAAGTAAATAGCC -3'

Sequencing Primer
(F):5'- GCCGAAACGTGTGCAGTTTATTAC -3'
(R):5'- ATACTGGCTAGTCTTGACGGCC -3'

Posted On

2021-07-15