Mutagenetix > Incidental Mutation

Incidental Mutation 'R0452:Stat5b'

212454

Institutional Source

Beutler Lab

Gene Symbol

Stat5b

Ensembl Gene

ENSMUSG00000020919

Gene Name

signal transducer and activator of transcription 5B

Synonyms

MMRRC Submission

038652-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0452 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

100671557-100741407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100689156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 246 (I246N)

Ref Sequence

ENSEMBL: ENSMUSP00000102981 (fasta)

Gene Model

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

AlphaFold

P42232

Predicted Effect

probably benign
Transcript: ENSMUST00000004143
AA Change: I246N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000004143
Gene: ENSMUSG00000020919
AA Change: I246N

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

probably benign
Transcript: ENSMUST00000107358
AA Change: I246N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000102981
Gene: ENSMUSG00000020919
AA Change: I246N

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

Meta Mutation Damage Score

0.1328

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.7%

Validation Efficiency

99% (93/94)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	A	G	8: 107,233,822 (GRCm39)		probably benign	Het
Acap3	C	A	4: 155,986,785 (GRCm39)	S347*	probably null	Het
Acvr1	G	A	2: 58,390,507 (GRCm39)	P19L	probably benign	Het
Add2	G	T	6: 86,081,611 (GRCm39)	E366*	probably null	Het
Ankrd28	C	A	14: 31,470,695 (GRCm39)	A153S	probably damaging	Het
Anxa8	A	T	14: 33,816,727 (GRCm39)	I206F	probably damaging	Het
Arhgef4	G	A	1: 34,771,403 (GRCm39)	E1237K	probably damaging	Het
Arid1a	C	T	4: 133,416,416 (GRCm39)	A1120T	unknown	Het
Atad5	T	C	11: 79,997,247 (GRCm39)	V857A	probably damaging	Het
Atp2a3	T	A	11: 72,868,058 (GRCm39)		probably null	Het
Atxn1l	C	T	8: 110,459,027 (GRCm39)	V412I	possibly damaging	Het
Card11	A	G	5: 140,866,125 (GRCm39)	S923P	probably benign	Het
Cars1	C	A	7: 143,146,362 (GRCm39)	E21*	probably null	Het
Ccdc115	A	G	1: 34,476,702 (GRCm39)		probably benign	Het
Ccnj	T	A	19: 40,833,508 (GRCm39)		probably null	Het
Cds2	C	T	2: 132,140,399 (GRCm39)	T182I	probably damaging	Het
Ceacam14	A	G	7: 17,549,248 (GRCm39)	H213R	probably benign	Het
Cfap44	A	T	16: 44,252,308 (GRCm39)	M806L	probably benign	Het
Chd8	A	T	14: 52,452,044 (GRCm39)	I1317K	probably damaging	Het
Cherp	A	T	8: 73,215,366 (GRCm39)		probably benign	Het
Creb5	C	G	6: 53,581,527 (GRCm39)	T30S	possibly damaging	Het
Csf2ra	A	G	19: 61,215,333 (GRCm39)	M94T	probably benign	Het
Cyp2b19	A	C	7: 26,466,187 (GRCm39)	D330A	probably benign	Het
Ddost	G	A	4: 138,037,499 (GRCm39)	V188M	possibly damaging	Het
Dnah7a	A	T	1: 53,644,978 (GRCm39)	D1019E	probably benign	Het
Dtx1	A	T	5: 120,833,057 (GRCm39)	I127N	possibly damaging	Het
Dyrk2	T	C	10: 118,704,668 (GRCm39)	T3A	possibly damaging	Het
Elovl5	C	T	9: 77,868,193 (GRCm39)	T35M	probably damaging	Het
Emc7	T	C	2: 112,297,314 (GRCm39)		probably benign	Het
Erp27	T	C	6: 136,886,487 (GRCm39)	Y182C	probably damaging	Het
Exoc2	T	A	13: 31,070,310 (GRCm39)		probably benign	Het
F5	A	C	1: 164,012,676 (GRCm39)	D530A	probably damaging	Het
Fam149a	A	T	8: 45,808,686 (GRCm39)	V149E	probably damaging	Het
Fbxo41	A	G	6: 85,455,164 (GRCm39)	S614P	probably damaging	Het
Fmn1	T	A	2: 113,467,124 (GRCm39)	Y1342N	possibly damaging	Het
Gpr22	T	A	12: 31,758,793 (GRCm39)	D443V	possibly damaging	Het
Il17rd	T	A	14: 26,813,888 (GRCm39)	W56R	probably damaging	Het
Itga2b	A	T	11: 102,356,779 (GRCm39)		probably null	Het
Jmjd1c	T	C	10: 67,091,261 (GRCm39)	M2514T	probably benign	Het
Klk1b9	T	C	7: 43,443,675 (GRCm39)		probably benign	Het
Krr1	T	C	10: 111,811,503 (GRCm39)	Y66H	probably damaging	Het
Lamb2	T	C	9: 108,363,553 (GRCm39)		probably benign	Het
Lgals3bp	A	T	11: 118,284,290 (GRCm39)	Y430N	probably benign	Het
Lrp10	T	C	14: 54,705,036 (GRCm39)	V113A	probably benign	Het
Mgam	A	G	6: 40,736,024 (GRCm39)	Y841C	probably damaging	Het
Nisch	T	A	14: 30,899,421 (GRCm39)		probably benign	Het
Nlrp4d	G	A	7: 10,112,219 (GRCm39)	T650I	probably benign	Het
Or4f61	T	A	2: 111,922,981 (GRCm39)	K22*	probably null	Het
Or5p78	C	T	7: 108,211,577 (GRCm39)	T21I	possibly damaging	Het
Parp4	A	G	14: 56,886,300 (GRCm39)	D1793G	unknown	Het
Pcm1	A	G	8: 41,778,942 (GRCm39)	D1850G	probably benign	Het
Pgap2	G	A	7: 101,885,669 (GRCm39)	A145T	probably damaging	Het
Phc1	G	A	6: 122,299,995 (GRCm39)	A583V	probably damaging	Het
Plcd3	G	A	11: 102,962,085 (GRCm39)		probably benign	Het
Ppm1m	T	A	9: 106,074,501 (GRCm39)	Q214L	probably damaging	Het
Prkg2	A	G	5: 99,145,379 (GRCm39)		probably benign	Het
Prss3l	A	G	6: 41,422,271 (GRCm39)	Y45H	probably benign	Het
Rasal3	T	C	17: 32,614,791 (GRCm39)		probably benign	Het
Rfc1	A	T	5: 65,421,640 (GRCm39)	D1086E	probably benign	Het
Rnf145	T	A	11: 44,452,587 (GRCm39)	L522H	probably damaging	Het
Setd2	T	A	9: 110,382,168 (GRCm39)		probably null	Het
Sik1	C	A	17: 32,068,055 (GRCm39)	V377F	possibly damaging	Het
Slc44a4	T	C	17: 35,147,071 (GRCm39)	I367T	possibly damaging	Het
Slfn3	A	G	11: 83,103,954 (GRCm39)	D275G	possibly damaging	Het
Smarcad1	A	T	6: 65,051,806 (GRCm39)	N313I	possibly damaging	Het
Smc4	A	T	3: 68,915,361 (GRCm39)	K138*	probably null	Het
Smg6	T	A	11: 74,821,039 (GRCm39)	S437T	probably benign	Het
Spaca9	G	T	2: 28,586,005 (GRCm39)	Q20K	probably damaging	Het
Spatc1	T	G	15: 76,152,493 (GRCm39)	I41S	probably damaging	Het
Spink5	A	T	18: 44,096,385 (GRCm39)	T5S	possibly damaging	Het
St3gal1	C	A	15: 66,981,504 (GRCm39)		probably benign	Het
Stat5a	C	A	11: 100,753,961 (GRCm39)	T97K	probably benign	Het
Supt6	G	T	11: 78,117,829 (GRCm39)	D462E	probably damaging	Het
Swi5	A	T	2: 32,171,836 (GRCm39)		probably benign	Het
Syne1	A	T	10: 5,355,435 (GRCm39)	V375E	probably damaging	Het
Tcp1	T	C	17: 13,143,239 (GRCm39)	F516S	probably benign	Het
Tdrd7	A	T	4: 45,965,488 (GRCm39)		probably benign	Het
Tgfbr3	A	T	5: 107,288,289 (GRCm39)	N457K	probably benign	Het
Tmem209	A	G	6: 30,487,380 (GRCm39)	M500T	probably damaging	Het
Tmem44	C	T	16: 30,336,281 (GRCm39)		probably benign	Het
Ttc21a	T	A	9: 119,768,220 (GRCm39)		probably benign	Het
Ttn	A	G	2: 76,701,454 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,666,347 (GRCm39)	I88F	possibly damaging	Het
Ube2w	T	C	1: 16,672,479 (GRCm39)		probably benign	Het
Ufc1	C	T	1: 171,117,527 (GRCm39)		probably benign	Het
Uhmk1	A	G	1: 170,039,971 (GRCm39)	M132T	possibly damaging	Het
Usp29	A	G	7: 6,966,181 (GRCm39)	N675D	possibly damaging	Het
Vmn1r23	A	G	6: 57,903,469 (GRCm39)	V103A	possibly damaging	Het
Wdr59	G	T	8: 112,248,604 (GRCm39)	R4S	possibly damaging	Het
Zc3hav1	T	A	6: 38,284,372 (GRCm39)	E914D	probably benign	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
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
R5015:Stat5b	UTSW	11	100,695,831 (GRCm39)	missense	possibly damaging	0.64
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'- CCCATCAAGAGCCAAGATACTGCTG -3'
(R):5'- TCTGTCACCTGAGATTCAGGGCAC -3'

Sequencing Primer
(F):5'- TGTCACAGACAGTGGGCATC -3'
(R):5'- ATTCAGGGCACCAGGTGG -3'

Posted On

2014-07-02