Mutagenetix > Incidental Mutation

Incidental Mutation 'R9472:Sgtb'

715539

Institutional Source

Beutler Lab

Gene Symbol

Sgtb

Ensembl Gene

ENSMUSG00000042743

Gene Name

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

Synonyms

C630001O05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.702) question?

Stock #

R9472 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

104246249-104278243 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 104247681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 28 (E28D)

Ref Sequence

ENSEMBL: ENSMUSP00000041307 (fasta)

Gene Model

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

AlphaFold

Q8VD33

Predicted Effect

probably benign
Transcript: ENSMUST00000044385
AA Change: E28D

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000041307
Gene: ENSMUSG00000042743
AA Change: E28D

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: N20T

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

SMART Domains

Protein: ENSMUSP00000124895
Gene: ENSMUSG00000042743
AA Change: N20T

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: E28D

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125569
Gene: ENSMUSG00000042743
AA Change: E28D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	G	8: 25,127,248 (GRCm39)	K449N	probably benign	Het
Adam39	G	A	8: 41,279,351 (GRCm39)	V581I	possibly damaging	Het
Agrn	A	G	4: 156,254,841 (GRCm39)	F1625S		Het
Aox3	G	T	1: 58,215,669 (GRCm39)	V1034L	possibly damaging	Het
Baz2a	T	G	10: 127,948,624 (GRCm39)	S302A	probably benign	Het
Capn9	T	C	8: 125,325,534 (GRCm39)		probably null	Het
Ccdc153	A	T	9: 44,154,923 (GRCm39)	Q104L	possibly damaging	Het
Cdh1	A	T	8: 107,380,248 (GRCm39)	N168I	probably damaging	Het
Crisp3	A	T	17: 40,539,676 (GRCm39)		probably null	Het
Ctsb	T	C	14: 63,379,186 (GRCm39)	V266A	probably damaging	Het
Cyp2c39	G	T	19: 39,502,043 (GRCm39)	R144L	probably damaging	Het
Elmo1	C	T	13: 20,470,897 (GRCm39)	A263V	probably benign	Het
Enkur	T	C	2: 21,201,590 (GRCm39)	R32G	possibly damaging	Het
Fsip2	T	A	2: 82,817,285 (GRCm39)	N4339K	possibly damaging	Het
Gsn	T	G	2: 35,182,741 (GRCm39)	M268R	probably damaging	Het
Herc2	T	A	7: 55,813,843 (GRCm39)	W2659R	probably damaging	Het
Hycc2	A	G	1: 58,574,641 (GRCm39)	V300A	possibly damaging	Het
Ino80e	A	G	7: 126,461,127 (GRCm39)	V40A	unknown	Het
Ints2	T	C	11: 86,133,824 (GRCm39)	T409A		Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kat2a	A	G	11: 100,596,197 (GRCm39)	V787A	probably benign	Het
Klhl32	A	G	4: 24,629,273 (GRCm39)	V465A	probably benign	Het
Kmt2a	C	A	9: 44,733,453 (GRCm39)	R2288L	unknown	Het
Megf6	G	A	4: 154,333,910 (GRCm39)	G213S	probably damaging	Het
Mt2	T	A	8: 94,899,999 (GRCm39)	C44S	probably damaging	Het
Nfe2l1	A	G	11: 96,710,159 (GRCm39)	V690A	probably damaging	Het
Obscn	T	C	11: 58,894,495 (GRCm39)	H6670R		Het
Or4c111	A	C	2: 88,843,517 (GRCm39)	I297S	possibly damaging	Het
Orc4	T	C	2: 48,795,563 (GRCm39)	T388A	probably benign	Het
Pcdhb17	C	A	18: 37,618,919 (GRCm39)	N236K	probably damaging	Het
Phlpp1	T	C	1: 106,308,079 (GRCm39)	S1119P	probably damaging	Het
Plppr3	T	C	10: 79,702,711 (GRCm39)	D184G	probably damaging	Het
Rassf6	A	T	5: 90,765,572 (GRCm39)	Y46*	probably null	Het
Rmdn2	T	A	17: 79,989,096 (GRCm39)	I405N	possibly damaging	Het
Rsbn1l	A	C	5: 21,113,119 (GRCm39)	S468A	probably damaging	Het
Rslcan18	T	C	13: 67,260,296 (GRCm39)	K34E	probably benign	Het
Runx3	A	G	4: 134,898,441 (GRCm39)	D204G	probably damaging	Het
Sbf2	A	G	7: 109,970,798 (GRCm39)	I866T	possibly damaging	Het
Slc38a8	T	A	8: 120,227,888 (GRCm39)	K14M	probably damaging	Het
Spast	T	C	17: 74,681,143 (GRCm39)	V478A	probably damaging	Het
Stxbp5	T	C	10: 9,719,101 (GRCm39)	T147A	probably damaging	Het
Tmem208	T	C	8: 106,055,027 (GRCm39)	F79S	probably damaging	Het
Tmprss7	T	C	16: 45,501,052 (GRCm39)	I250V	probably benign	Het
Usp24	A	G	4: 106,261,128 (GRCm39)	T1628A	probably benign	Het
Vmn2r14	G	T	5: 109,367,962 (GRCm39)	N343K	probably benign	Het
Xrcc6	T	A	15: 81,913,328 (GRCm39)	Y320*	probably null	Het
Zbtb10	A	C	3: 9,343,355 (GRCm39)	T627P	probably benign	Het
Zfp532	A	T	18: 65,756,624 (GRCm39)	K186*	probably null	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
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
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'- AACCACTTGTGCTTTCTGGAC -3'
(R):5'- CCTAGTCTGTTCATTGGGGATAATG -3'

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

Posted On

2022-06-15