Mutagenetix > Incidental Mutation

Incidental Mutation 'R4925:St13'

378990

Institutional Source

Beutler Lab

Gene Symbol

St13

Ensembl Gene

ENSMUSG00000022403

Gene Name

suppression of tumorigenicity 13

Synonyms

3110002K08Rik, HSPABP1, PRO0786, SNC6, 1110007I03Rik, p48, Hsp70 interacting protein

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.373) question?

Stock #

R4925 (G1)

Quality Score

126

Status

Not validated

Chromosome

Chromosomal Location

81247870-81284278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 81283786 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 4 (R4G)

Ref Sequence

ENSEMBL: ENSMUSP00000131502 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023039] [ENSMUST00000041609] [ENSMUST00000163382] [ENSMUST00000163754] [ENSMUST00000165258] [ENSMUST00000172107] [ENSMUST00000167799] [ENSMUST00000165582] [ENSMUST00000169204]

AlphaFold

Q99L47

Predicted Effect

probably benign
Transcript: ENSMUST00000023039
AA Change: R4G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000023039
Gene: ENSMUSG00000022403
AA Change: R4G

Domain	Start	End	E-Value	Type
PDB:4J8C\|B	1	44	6e-25	PDB
low complexity region	52	72	N/A	INTRINSIC
TPR	104	137	1.2e1	SMART
TPR	138	171	6.95e-4	SMART
TPR	172	205	4.8e1	SMART
coiled coil region	225	264	N/A	INTRINSIC
low complexity region	271	305	N/A	INTRINSIC
STI1	312	351	3.37e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000041609

SMART Domains

Protein: ENSMUSP00000038331
Gene: ENSMUSG00000022401

Domain	Start	End	E-Value	Type
AMP_N	67	213	6.36e-54	SMART
Pfam:Peptidase_M24	253	366	1.8e-22	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163296

Predicted Effect

probably benign
Transcript: ENSMUST00000163382
AA Change: R4G

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000131502
Gene: ENSMUSG00000022403
AA Change: R4G

Domain	Start	End	E-Value	Type
PDB:4J8C\|B	1	44	2e-27	PDB
low complexity region	52	66	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163754

SMART Domains

Protein: ENSMUSP00000132822
Gene: ENSMUSG00000022401

Domain	Start	End	E-Value	Type
AMP_N	67	213	6.36e-54	SMART
Pfam:Peptidase_M24	253	481	1.1e-57	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164144

Predicted Effect

probably benign
Transcript: ENSMUST00000165258

Predicted Effect

probably benign
Transcript: ENSMUST00000172107
AA Change: R4G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000130195
Gene: ENSMUSG00000022403
AA Change: R4G

Domain	Start	End	E-Value	Type
PDB:4J8C\|B	1	44	6e-25	PDB
low complexity region	52	66	N/A	INTRINSIC
low complexity region	71	81	N/A	INTRINSIC
TPR	113	146	1.2e1	SMART
TPR	147	180	6.95e-4	SMART
TPR	181	214	4.8e1	SMART
coiled coil region	234	273	N/A	INTRINSIC
low complexity region	280	314	N/A	INTRINSIC
STI1	321	360	3.37e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166831

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167799

SMART Domains

Protein: ENSMUSP00000126038
Gene: ENSMUSG00000022401

Domain	Start	End	E-Value	Type
AMP_N	67	203	6.87e-50	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165582

SMART Domains

Protein: ENSMUSP00000129966
Gene: ENSMUSG00000022403

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	34	44	N/A	INTRINSIC
Pfam:TPR_11	74	129	6.8e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169204

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230906

Meta Mutation Damage Score

0.1302

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adaptor protein that mediates the association of the heat shock proteins HSP70 and HSP90. This protein has been shown to be involved in the assembly process of glucocorticoid receptor, which requires the assistance of multiple molecular chaperones. The expression of this gene is reported to be downregulated in colorectal carcinoma tissue suggesting that it is a candidate tumor suppressor gene. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,316,540 (GRCm39)	C173*	probably null	Het
3425401B19Rik	T	A	14: 32,385,137 (GRCm39)	H276L	possibly damaging	Het
Adam21	T	G	12: 81,607,163 (GRCm39)	M200L	probably benign	Het
Adamts3	A	T	5: 89,832,182 (GRCm39)	S974T	probably benign	Het
Adamtsl3	T	A	7: 82,251,507 (GRCm39)		probably null	Het
Atp8b2	A	G	3: 89,853,930 (GRCm39)		probably null	Het
Brd8	T	C	18: 34,740,388 (GRCm39)	T552A	probably benign	Het
Btaf1	A	G	19: 36,988,733 (GRCm39)	S1826G	probably benign	Het
Ccdc163	A	G	4: 116,568,528 (GRCm39)	E77G	possibly damaging	Het
Ces2g	A	G	8: 105,691,526 (GRCm39)	R194G	probably benign	Het
Cip2a	T	C	16: 48,836,726 (GRCm39)		probably null	Het
Cln8	A	G	8: 14,945,004 (GRCm39)	H106R	possibly damaging	Het
Col12a1	T	G	9: 79,582,077 (GRCm39)	L1391F	probably damaging	Het
Col16a1	G	A	4: 129,947,969 (GRCm39)	D230N	probably damaging	Het
Crhbp	C	A	13: 95,580,318 (GRCm39)	G87V	possibly damaging	Het
Cyp3a16	C	T	5: 145,389,644 (GRCm39)	M240I	probably benign	Het
Cyp4a14	A	T	4: 115,353,133 (GRCm39)	W60R	possibly damaging	Het
Fam47e	A	G	5: 92,733,149 (GRCm39)	Y304C	probably damaging	Het
Fgfbp1	A	T	5: 44,136,634 (GRCm39)	D219E	probably damaging	Het
Fgfr2	A	T	7: 129,787,002 (GRCm39)	Y485N	probably damaging	Het
Fhdc1	C	T	3: 84,360,840 (GRCm39)	V363M	probably damaging	Het
Foxb1	T	A	9: 69,667,437 (GRCm39)	E31V	probably damaging	Het
Galnt9	T	C	5: 110,692,605 (GRCm39)	V13A	possibly damaging	Het
Ghrl	T	C	6: 113,693,218 (GRCm39)	D77G	probably damaging	Het
Gpr85	A	G	6: 13,835,977 (GRCm39)	V309A	probably benign	Het
Greb1	T	C	12: 16,731,472 (GRCm39)	Y1622C	probably damaging	Het
Greb1l	T	A	18: 10,547,447 (GRCm39)	M1555K	possibly damaging	Het
Grin2a	T	A	16: 9,487,687 (GRCm39)	N404Y	probably damaging	Het
Gtpbp1	A	C	15: 79,600,169 (GRCm39)	I399L	probably benign	Het
Hectd4	T	C	5: 121,460,753 (GRCm39)	S911P	possibly damaging	Het
Igkc	A	T	6: 70,703,520 (GRCm39)	K34*	probably null	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Iqgap1	T	A	7: 80,415,065 (GRCm39)	I149F	probably damaging	Het
Lama1	C	T	17: 68,101,309 (GRCm39)	A1934V	probably benign	Het
Lrp1	C	A	10: 127,410,944 (GRCm39)	E1415*	probably null	Het
Lypd8l	T	A	11: 58,501,513 (GRCm39)	T157S	probably damaging	Het
Macf1	A	C	4: 123,420,445 (GRCm39)	C270G	probably benign	Het
Marveld3	A	G	8: 110,674,943 (GRCm39)	V291A	probably benign	Het
Med23	T	C	10: 24,786,645 (GRCm39)	F917S	probably damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Ncan	A	T	8: 70,562,604 (GRCm39)	D551E	probably benign	Het
Or1e23	A	T	11: 73,407,998 (GRCm39)	I9N	possibly damaging	Het
Or4x6	T	A	2: 89,949,121 (GRCm39)	T274S	probably damaging	Het
Or52h2	T	C	7: 103,839,387 (GRCm39)	Y9C	possibly damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pla2g12a	T	C	3: 129,672,467 (GRCm39)	W34R	probably damaging	Het
Plekha7	A	G	7: 115,757,363 (GRCm39)	F529S	probably damaging	Het
Potefam1	T	C	2: 111,048,961 (GRCm39)	K273E	probably benign	Het
Ppl	T	A	16: 4,922,846 (GRCm39)	D215V	probably damaging	Het
Pramel15	A	T	4: 144,104,502 (GRCm39)	M1K	probably null	Het
Prdm1	T	A	10: 44,316,165 (GRCm39)	Y690F	probably damaging	Het
Prkcd	T	A	14: 30,329,570 (GRCm39)	D124V	probably damaging	Het
Ptprc	C	A	1: 138,027,235 (GRCm39)	D538Y	probably benign	Het
Rasl10b	G	A	11: 83,303,505 (GRCm39)	V21M	probably damaging	Het
Rgsl1	T	A	1: 153,688,023 (GRCm39)	Y657F	probably benign	Het
Rrn3	T	C	16: 13,617,836 (GRCm39)	C360R	probably damaging	Het
Scarb1	T	C	5: 125,374,363 (GRCm39)	T257A	probably damaging	Het
Serpinb2	T	A	1: 107,443,219 (GRCm39)	M6K	probably benign	Het
Slco4a1	T	C	2: 180,113,849 (GRCm39)	Y429H	probably benign	Het
Taar3	T	A	10: 23,826,441 (GRCm39)	F329Y	probably damaging	Het
Tardbp	A	T	4: 148,703,108 (GRCm39)	N285K	probably benign	Het
Tcstv7b	A	G	13: 120,702,384 (GRCm39)	Y60C	probably damaging	Het
Tnni2	A	T	7: 141,996,430 (GRCm39)	E4V	probably benign	Het
Tnpo2	A	T	8: 85,776,654 (GRCm39)	I454F	probably damaging	Het
Tpr	T	G	1: 150,308,316 (GRCm39)	H1690Q	probably benign	Het
Trav18	T	C	14: 54,068,577 (GRCm39)	S6P	probably benign	Het
Trf	T	C	9: 103,096,445 (GRCm39)	N25S	probably benign	Het
Vmn1r59	T	C	7: 5,457,115 (GRCm39)	N215S	probably benign	Het
Vmn2r2	T	C	3: 64,044,892 (GRCm39)	M1V	probably null	Het
Wdr64	T	C	1: 175,552,268 (GRCm39)		probably null	Het
Wdr73	T	C	7: 80,542,943 (GRCm39)	S222G	probably benign	Het

Other mutations in St13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01647:St13	APN	15	81,255,708 (GRCm39)	missense	probably damaging	0.99
IGL01933:St13	APN	15	81,273,899 (GRCm39)	critical splice acceptor site	probably null
IGL02152:St13	APN	15	81,250,583 (GRCm39)	missense	probably damaging	1.00
R0714:St13	UTSW	15	81,267,228 (GRCm39)	missense	probably benign	0.16
R3417:St13	UTSW	15	81,253,651 (GRCm39)	splice site	probably benign
R4845:St13	UTSW	15	81,283,786 (GRCm39)	missense	probably benign	0.09
R4934:St13	UTSW	15	81,283,786 (GRCm39)	missense	probably benign	0.09
R5029:St13	UTSW	15	81,283,786 (GRCm39)	missense	probably benign	0.09
R5042:St13	UTSW	15	81,249,693 (GRCm39)	missense	probably damaging	1.00
R5048:St13	UTSW	15	81,283,786 (GRCm39)	missense	probably benign	0.09
R5139:St13	UTSW	15	81,283,786 (GRCm39)	missense	probably benign	0.09
R5970:St13	UTSW	15	81,261,999 (GRCm39)	missense	probably damaging	0.99
R6158:St13	UTSW	15	81,283,802 (GRCm39)	splice site	probably null
R6175:St13	UTSW	15	81,283,506 (GRCm39)	critical splice donor site	probably null
R6872:St13	UTSW	15	81,250,547 (GRCm39)	critical splice donor site	probably null
R7320:St13	UTSW	15	81,273,854 (GRCm39)	missense	probably damaging	0.99
R7912:St13	UTSW	15	81,283,719 (GRCm39)	missense	possibly damaging	0.52
R9258:St13	UTSW	15	81,272,569 (GRCm39)	missense	probably benign	0.01
R9281:St13	UTSW	15	81,261,927 (GRCm39)	missense	probably damaging	0.99
R9442:St13	UTSW	15	81,272,575 (GRCm39)	missense	possibly damaging	0.88
R9483:St13	UTSW	15	81,250,587 (GRCm39)	missense	probably damaging	0.99
R9549:St13	UTSW	15	81,259,063 (GRCm39)	missense	possibly damaging	0.64
X0065:St13	UTSW	15	81,250,637 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTCGAAGCCACTAAGAGCC -3'
(R):5'- GCAGCTACACTTCTAGAAGGTTC -3'

Sequencing Primer
(F):5'- CACGAAGGGGCCTAGAACC -3'
(R):5'- TAGAAGGTTCTAGGCGGAGC -3'

Posted On

2016-04-15