Mutagenetix > Incidental Mutation

Incidental Mutation 'R5015:Stat5b'

385526

Institutional Source

Beutler Lab

Gene Symbol

Stat5b

Ensembl Gene

ENSMUSG00000020919

Gene Name

signal transducer and activator of transcription 5B

Synonyms

MMRRC Submission

042606-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5015 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100671557-100741407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100695831 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 50 (N50K)

Ref Sequence

ENSEMBL: ENSMUSP00000102981 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004143] [ENSMUST00000107358]

AlphaFold

P42232

Predicted Effect

possibly damaging
Transcript: ENSMUST00000004143
AA Change: N50K

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000004143
Gene: ENSMUSG00000020919
AA Change: N50K

Domain	Start	End	E-Value	Type
STAT_int	2	126	2.3e-60	SMART
Pfam:STAT_alpha	138	330	1e-57	PFAM
Pfam:STAT_bind	332	583	1.6e-100	PFAM
SH2	587	676	3.23e-4	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107358
AA Change: N50K

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102981
Gene: ENSMUSG00000020919
AA Change: N50K

Domain	Start	End	E-Value	Type
STAT_int	2	126	2.3e-60	SMART
Pfam:STAT_alpha	141	330	7.1e-56	PFAM
Pfam:STAT_bind	332	582	3.3e-105	PFAM
SH2	587	676	3.23e-4	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126266

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.2%
20x: 91.3%

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 a member of the STAT family of transcription factors. In response to cytokines and growth factors, STAT family members are phosphorylated by the receptor associated kinases, and then form homo- or heterodimers that translocate to the cell nucleus where they act as transcription activators. This protein mediates the signal transduction triggered by various cell ligands, such as IL2, IL4, CSF1, and different growth hormones. It has been shown to be involved in diverse biological processes, such as TCR signaling, apoptosis, adult mammary gland development, and sexual dimorphism of liver gene expression. This gene was found to fuse to retinoic acid receptor-alpha (RARA) gene in a small subset of acute promyelocytic leukemias (APLL). The dysregulation of the signaling pathways mediated by this protein may be the cause of the APLL. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this are reduced in size and mammary glands secrete reduced levels of some milk proteins during lactation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	T	A	8: 41,207,671 (GRCm39)	F312L	probably benign	Het
Adprm	A	G	11: 66,932,856 (GRCm39)	F18L	possibly damaging	Het
Ampd1	T	G	3: 103,006,981 (GRCm39)	N735K	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp1a4	T	C	1: 172,081,649 (GRCm39)	M168V	probably damaging	Het
Bcl6	G	A	16: 23,793,600 (GRCm39)	H116Y	probably damaging	Het
Bmpr2	T	A	1: 59,890,383 (GRCm39)	N338K	probably damaging	Het
Bms1	A	T	6: 118,381,224 (GRCm39)	Y697*	probably null	Het
Ccdc33	A	C	9: 58,025,918 (GRCm39)	F37C	probably damaging	Het
Ccdc60	T	A	5: 116,426,507 (GRCm39)	Q30L	probably benign	Het
Cndp1	C	A	18: 84,650,036 (GRCm39)	R219L	probably damaging	Het
Cstdc4	T	C	16: 36,006,837 (GRCm39)		probably null	Het
Daam2	C	A	17: 49,783,550 (GRCm39)	D627Y	probably damaging	Het
Dffb	T	C	4: 154,057,416 (GRCm39)	D87G	possibly damaging	Het
Dnah2	T	G	11: 69,388,708 (GRCm39)	T892P	possibly damaging	Het
Dqx1	A	G	6: 83,043,092 (GRCm39)	T610A	probably benign	Het
Dspp	A	T	5: 104,324,926 (GRCm39)	I430L	possibly damaging	Het
Dytn	T	A	1: 63,672,854 (GRCm39)	K516N	probably benign	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fmnl2	T	A	2: 52,993,773 (GRCm39)	N389K	possibly damaging	Het
Fn1	G	A	1: 71,665,336 (GRCm39)	T927I	probably damaging	Het
Foxn1	T	C	11: 78,261,989 (GRCm39)	K127E	probably damaging	Het
Fpr-rs6	A	G	17: 20,402,608 (GRCm39)	F251S	probably damaging	Het
Frrs1	A	G	3: 116,672,088 (GRCm39)	D62G	probably damaging	Het
Fut10	T	A	8: 31,726,148 (GRCm39)	V301D	probably damaging	Het
Gk5	A	G	9: 96,059,470 (GRCm39)		probably null	Het
Glipr1l1	T	A	10: 111,914,279 (GRCm39)	N213K	probably benign	Het
Gm1110	A	G	9: 26,793,162 (GRCm39)	F538S	probably benign	Het
Gm7347	T	A	5: 26,262,366 (GRCm39)	T52S	probably benign	Het
Gsap	T	C	5: 21,427,406 (GRCm39)	I178T	probably damaging	Het
H1f9	C	A	11: 94,858,928 (GRCm39)	N74K	probably damaging	Het
Hcn1	A	T	13: 117,739,556 (GRCm39)	Q106L	unknown	Het
Isg20l2	G	T	3: 87,839,288 (GRCm39)	L166F	possibly damaging	Het
Kcnq3	T	A	15: 65,876,612 (GRCm39)	E510D	probably damaging	Het
Kif26b	G	T	1: 178,755,895 (GRCm39)	R2003L	probably damaging	Het
Kiss1r	T	C	10: 79,754,641 (GRCm39)	V45A	probably damaging	Het
Krt14	G	A	11: 100,098,032 (GRCm39)	R84*	probably null	Het
Mbd5	T	C	2: 49,148,208 (GRCm39)	M806T	possibly damaging	Het
Mdga1	A	T	17: 30,058,847 (GRCm39)	I13N	possibly damaging	Het
Mfsd4b5	T	C	10: 39,850,758 (GRCm39)	K73E	probably benign	Het
Mterf2	C	T	10: 84,955,596 (GRCm39)	G343R	probably benign	Het
Mto1	T	A	9: 78,368,903 (GRCm39)	F522I	probably benign	Het
Myo18b	T	C	5: 112,937,923 (GRCm39)	E1734G	probably damaging	Het
Myoz1	T	C	14: 20,703,787 (GRCm39)	T53A	probably benign	Het
Naxd	T	C	8: 11,563,032 (GRCm39)	L324P	probably damaging	Het
Nos1	T	A	5: 118,005,334 (GRCm39)	V18D	probably damaging	Het
Nova1	T	C	12: 46,863,738 (GRCm39)	T71A	unknown	Het
Or10v5	T	C	19: 11,805,482 (GRCm39)	R303G	probably benign	Het
Or10z1	A	G	1: 174,078,448 (GRCm39)	L15S	possibly damaging	Het
Or1e29	C	G	11: 73,668,007 (GRCm39)	V49L	probably benign	Het
Or2j6	T	C	7: 139,980,083 (GRCm39)	D292G	probably damaging	Het
Or52b1	A	G	7: 104,978,811 (GRCm39)	V196A	possibly damaging	Het
Otof	T	A	5: 30,540,238 (GRCm39)	Y981F	probably damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Pex1	A	G	5: 3,670,597 (GRCm39)	K7E	probably damaging	Het
Pi4ka	A	G	16: 17,120,946 (GRCm39)	S73P	possibly damaging	Het
Plxnb1	T	A	9: 108,929,498 (GRCm39)	I118N	possibly damaging	Het
Prcc	T	C	3: 87,779,560 (GRCm39)	D158G	probably damaging	Het
Ptpn7	C	A	1: 135,066,877 (GRCm39)	R245S	possibly damaging	Het
Ptpre	C	T	7: 135,270,861 (GRCm39)	H346Y	probably benign	Het
Pwp2	A	G	10: 78,018,527 (GRCm39)	C86R	probably benign	Het
Rfng	T	G	11: 120,673,876 (GRCm39)	D178A	probably damaging	Het
Rhpn1	T	C	15: 75,580,090 (GRCm39)	I51T	probably damaging	Het
Rnasel	G	T	1: 153,629,843 (GRCm39)	E120*	probably null	Het
Sall2	T	G	14: 52,553,112 (GRCm39)	S26R	possibly damaging	Het
Scn10a	A	G	9: 119,451,987 (GRCm39)	V1312A	possibly damaging	Het
Sdk2	C	A	11: 113,684,587 (GRCm39)	R1958L	probably damaging	Het
Septin4	C	T	11: 87,458,043 (GRCm39)	S139F	possibly damaging	Het
Slc52a2	T	A	15: 76,424,751 (GRCm39)	C330S	probably damaging	Het
Smarca2	T	A	19: 26,668,788 (GRCm39)	I987N	possibly damaging	Het
Srrt	A	T	5: 137,294,271 (GRCm39)	Y486N	probably damaging	Het
Strip2	T	A	6: 29,931,265 (GRCm39)	D405E	probably benign	Het
Tcstv6	T	A	13: 120,298,474 (GRCm39)		probably null	Het
Tnc	A	T	4: 63,924,739 (GRCm39)	D986E	probably damaging	Het
Tph2	T	C	10: 114,915,621 (GRCm39)	N473S	probably benign	Het
Tpp1	C	T	7: 105,401,232 (GRCm39)		probably benign	Het
Trpm3	T	C	19: 22,689,076 (GRCm39)	Y2H	probably damaging	Het
Ttc21a	A	T	9: 119,795,195 (GRCm39)	E1072V	probably damaging	Het
Zfat	T	C	15: 68,050,762 (GRCm39)	D753G	probably damaging	Het
Zmym2	T	A	14: 57,159,051 (GRCm39)	S609T	probably damaging	Het

Other mutations in Stat5b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02208:Stat5b	APN	11	100,695,739 (GRCm39)	missense	probably damaging	1.00
IGL02675:Stat5b	APN	11	100,678,200 (GRCm39)	missense	probably benign	0.26
IGL02683:Stat5b	APN	11	100,695,772 (GRCm39)	missense	probably benign	0.11
IGL02725:Stat5b	APN	11	100,695,840 (GRCm39)	missense	possibly damaging	0.91
R0305:Stat5b	UTSW	11	100,693,329 (GRCm39)	missense	probably benign	0.00
R0315:Stat5b	UTSW	11	100,679,286 (GRCm39)	missense	probably benign	0.01
R0452:Stat5b	UTSW	11	100,689,156 (GRCm39)	missense	probably benign	0.00
R1267:Stat5b	UTSW	11	100,689,419 (GRCm39)	missense	probably benign	0.08
R1527:Stat5b	UTSW	11	100,699,220 (GRCm39)	critical splice donor site	probably null
R2059:Stat5b	UTSW	11	100,678,158 (GRCm39)	missense	probably benign	0.12
R2316:Stat5b	UTSW	11	100,687,318 (GRCm39)	missense	probably damaging	1.00
R2990:Stat5b	UTSW	11	100,699,188 (GRCm39)	splice site	probably null
R4380:Stat5b	UTSW	11	100,678,175 (GRCm39)	missense	probably damaging	1.00
R4478:Stat5b	UTSW	11	100,678,110 (GRCm39)	missense	probably benign	0.31
R4584:Stat5b	UTSW	11	100,678,064 (GRCm39)	missense	probably damaging	1.00
R4806:Stat5b	UTSW	11	100,681,623 (GRCm39)	missense	probably benign
R4931:Stat5b	UTSW	11	100,675,080 (GRCm39)	nonsense	probably null
R5008:Stat5b	UTSW	11	100,693,309 (GRCm39)	missense	probably benign	0.00
R5072:Stat5b	UTSW	11	100,699,361 (GRCm39)	critical splice acceptor site	probably null
R5601:Stat5b	UTSW	11	100,674,001 (GRCm39)	missense	probably damaging	0.99
R5638:Stat5b	UTSW	11	100,675,080 (GRCm39)	nonsense	probably null
R5901:Stat5b	UTSW	11	100,695,733 (GRCm39)	missense	possibly damaging	0.62
R6577:Stat5b	UTSW	11	100,688,526 (GRCm39)	missense	probably benign	0.00
R7882:Stat5b	UTSW	11	100,674,601 (GRCm39)	missense	possibly damaging	0.55
R8147:Stat5b	UTSW	11	100,688,607 (GRCm39)	missense	probably benign	0.06
R8188:Stat5b	UTSW	11	100,692,262 (GRCm39)	missense	probably damaging	1.00
R9022:Stat5b	UTSW	11	100,681,634 (GRCm39)	missense	probably benign
R9114:Stat5b	UTSW	11	100,692,350 (GRCm39)	missense	probably damaging	0.97
R9449:Stat5b	UTSW	11	100,681,674 (GRCm39)	missense	probably benign	0.00
R9489:Stat5b	UTSW	11	100,699,276 (GRCm39)	missense	possibly damaging	0.50
R9492:Stat5b	UTSW	11	100,692,361 (GRCm39)	missense	probably benign	0.01
R9605:Stat5b	UTSW	11	100,699,276 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- GCCGGGTTAAAGATCAGAACAC -3'
(R):5'- TCGGGGTGTTTCTTAACCCG -3'

Sequencing Primer
(F):5'- GGTTAAAGATCAGAACACGTGTCTAC -3'
(R):5'- CCCGTGAATTATAGAAGAAATCACG -3'

Posted On

2016-05-10