Mutagenetix > Incidental Mutation

Incidental Mutation 'R1556:Sgtb'

170294

Institutional Source

Beutler Lab

Gene Symbol

Sgtb

Ensembl Gene

ENSMUSG00000042743

Gene Name

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

Synonyms

C630001O05Rik

MMRRC Submission

039595-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R1556 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

104246249-104278243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 104276284 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 237 (N237K)

Ref Sequence

ENSEMBL: ENSMUSP00000124895 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022224] [ENSMUST00000044385] [ENSMUST00000141557] [ENSMUST00000144060] [ENSMUST00000159574] [ENSMUST00000179891]

AlphaFold

Q8VD33

Predicted Effect

probably benign
Transcript: ENSMUST00000022224

SMART Domains

Protein: ENSMUSP00000022224
Gene: ENSMUSG00000021711

Domain	Start	End	E-Value	Type
Pfam:DUF974	65	298	1.3e-87	PFAM
low complexity region	366	388	N/A	INTRINSIC
low complexity region	405	418	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000044385
AA Change: N280K

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

SMART Domains

Protein: ENSMUSP00000041307
Gene: ENSMUSG00000042743
AA Change: N280K

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: ENSMUST00000141557

SMART Domains

Protein: ENSMUSP00000118316
Gene: ENSMUSG00000021711

Domain	Start	End	E-Value	Type
Pfam:DUF974	65	299	1.6e-88	PFAM
low complexity region	365	387	N/A	INTRINSIC
low complexity region	404	417	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000144060

SMART Domains

Protein: ENSMUSP00000114406
Gene: ENSMUSG00000021711

Domain	Start	End	E-Value	Type
Pfam:DUF974	65	293	4.4e-87	PFAM
low complexity region	360	382	N/A	INTRINSIC
low complexity region	399	412	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159574
AA Change: N237K

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

SMART Domains

Protein: ENSMUSP00000124895
Gene: ENSMUSG00000042743
AA Change: N237K

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: ENSMUST00000179891

SMART Domains

Protein: ENSMUSP00000136986
Gene: ENSMUSG00000021711

Domain	Start	End	E-Value	Type
Pfam:DUF974	65	299	1e-87	PFAM
low complexity region	366	388	N/A	INTRINSIC
low complexity region	405	418	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	T	C	8: 73,203,477 (GRCm39)	S302P	probably damaging	Het
Anapc1	T	C	2: 128,466,819 (GRCm39)	T1626A	probably benign	Het
Arhgef6	T	C	X: 56,383,922 (GRCm39)	M5V	probably benign	Het
Arid5a	T	A	1: 36,359,245 (GRCm39)	Y520*	probably null	Het
Aven	G	A	2: 112,461,230 (GRCm39)	M215I	probably damaging	Het
Cabyr	A	G	18: 12,877,837 (GRCm39)	D58G	probably damaging	Het
Ccdc146	A	G	5: 21,535,551 (GRCm39)	Y168H	probably damaging	Het
Ccnd2	A	T	6: 127,107,363 (GRCm39)	S269T	probably benign	Het
Cd68	T	A	11: 69,556,676 (GRCm39)	T44S	probably damaging	Het
Clstn2	A	T	9: 97,338,558 (GRCm39)	I867N	probably benign	Het
Cmss1	C	T	16: 57,136,560 (GRCm39)	R104H	probably benign	Het
Col6a6	A	G	9: 105,586,672 (GRCm39)	V1783A	possibly damaging	Het
Dach2	T	C	X: 112,208,214 (GRCm39)	S31P	probably benign	Het
Dpp8	T	A	9: 64,958,761 (GRCm39)	W279R	probably damaging	Het
Fras1	A	T	5: 96,890,921 (GRCm39)	I2817F	possibly damaging	Het
Gabrr3	G	A	16: 59,281,763 (GRCm39)	D373N	probably benign	Het
Gdf7	T	C	12: 8,351,698 (GRCm39)	N79S	unknown	Het
Gpam	A	G	19: 55,064,763 (GRCm39)	V647A	possibly damaging	Het
Gpatch1	T	C	7: 34,994,776 (GRCm39)	T497A	probably benign	Het
Grin2a	A	T	16: 9,525,579 (GRCm39)	F337L	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
H2-Aa	A	T	17: 34,503,390 (GRCm39)	V69D	possibly damaging	Het
H2-M10.5	T	C	17: 37,084,205 (GRCm39)	Y56H	probably damaging	Het
Kcnu1	G	A	8: 26,351,219 (GRCm39)		probably null	Het
Krt77	A	G	15: 101,769,713 (GRCm39)	S386P	probably damaging	Het
L3mbtl2	T	A	15: 81,566,203 (GRCm39)	M342K	probably benign	Het
Ldlrad1	A	G	4: 107,075,010 (GRCm39)	T186A	probably benign	Het
Lins1	C	A	7: 66,360,385 (GRCm39)	C168*	probably null	Het
Lrrtm3	G	A	10: 63,923,928 (GRCm39)	T413M	probably damaging	Het
Macf1	T	C	4: 123,348,813 (GRCm39)	D4038G	probably damaging	Het
Mark3	T	G	12: 111,594,275 (GRCm39)	N308K	probably damaging	Het
Mdga2	T	A	12: 66,597,367 (GRCm39)	Y709F	possibly damaging	Het
Mtus2	T	A	5: 148,014,198 (GRCm39)	S330R	probably benign	Het
Or1p1	T	A	11: 74,179,762 (GRCm39)	C97S	probably damaging	Het
Or4k15c	G	A	14: 50,321,916 (GRCm39)	A74V	possibly damaging	Het
Or51a24	T	A	7: 103,733,468 (GRCm39)	H273L	probably benign	Het
Or6c76	T	C	10: 129,612,242 (GRCm39)	V168A	probably benign	Het
Ovgp1	A	G	3: 105,894,068 (GRCm39)		probably benign	Het
P4ha2	A	G	11: 54,015,836 (GRCm39)	T408A	probably damaging	Het
Pcdh8	T	G	14: 80,007,843 (GRCm39)	D240A	probably damaging	Het
Pcyt2	T	C	11: 120,502,911 (GRCm39)		probably null	Het
Pecr	T	A	1: 72,298,542 (GRCm39)	I293L	probably benign	Het
Pogk	A	G	1: 166,226,402 (GRCm39)	V583A	possibly damaging	Het
Prkg1	T	C	19: 30,602,143 (GRCm39)	K371R	probably benign	Het
Psmd2	T	A	16: 20,474,335 (GRCm39)	M297K	possibly damaging	Het
Rgs12	A	G	5: 35,196,626 (GRCm39)	R769G	possibly damaging	Het
Sh3bgrl2	T	C	9: 83,476,751 (GRCm39)	V91A	probably damaging	Het
Slc4a1ap	G	A	5: 31,691,554 (GRCm39)		probably null	Het
Slc4a7	T	C	14: 14,778,872 (GRCm38)	V940A	probably benign	Het
Tep1	T	C	14: 51,090,499 (GRCm39)	T740A	probably benign	Het
Tnk2	G	T	16: 32,489,737 (GRCm39)		probably null	Het
Trpv2	A	G	11: 62,483,059 (GRCm39)	Y450C	probably damaging	Het
Tut7	T	C	13: 59,948,054 (GRCm39)	T354A	probably benign	Het
Tvp23a	A	T	16: 10,264,862 (GRCm39)	D16E	probably damaging	Het
Twnk	T	C	19: 44,997,850 (GRCm39)	F460L	possibly damaging	Het
Unc80	C	T	1: 66,560,740 (GRCm39)	H823Y	possibly damaging	Het
Urb2	T	C	8: 124,757,356 (GRCm39)	L1021P	probably damaging	Het
Vps13c	T	C	9: 67,837,993 (GRCm39)	Y1848H	probably damaging	Het
Vwa8	T	G	14: 79,324,121 (GRCm39)	N1141K	probably benign	Het
Yipf3	A	G	17: 46,561,793 (GRCm39)	Y200C	probably damaging	Het
Zbtb38	A	G	9: 96,569,044 (GRCm39)	V680A	probably benign	Het
Znrf3	T	C	11: 5,231,347 (GRCm39)	E722G	probably benign	Het
Zzef1	T	A	11: 72,806,059 (GRCm39)	L2665H	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
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
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'- GCACCAGTACACACATGAGATGTACAG -3'
(R):5'- CGTGTCTTCTAAACCAGCATCGCC -3'

Sequencing Primer
(F):5'- CATGAGATGTACAGAAACGCAC -3'
(R):5'- GATCACTGCTTTCCAAAGGAGTC -3'

Posted On

2014-04-13