Mutagenetix > Incidental Mutations

Incidental Mutation 'R2971:Pou6f2'

477687

Institutional Source

Beutler Lab

Gene Symbol

Pou6f2

Ensembl Gene

ENSMUSG00000009734

Gene Name

POU domain, class 6, transcription factor 2

Synonyms

RPF-1, D130006K24Rik

MMRRC Submission

040525-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2971 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18121098-18397686 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18381967 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 25 (T25A)

Gene Model

predicted gene model for transcript(s):

Predicted Effect

unknown
Transcript: ENSMUST00000139064
AA Change: T25A

SMART Domains

Protein: ENSMUSP00000114173
Gene: ENSMUSG00000009734
AA Change: T25A

Domain	Start	End	E-Value	Type
low complexity region	67	79	N/A	INTRINSIC
coiled coil region	107	143	N/A	INTRINSIC
low complexity region	248	266	N/A	INTRINSIC
POU	422	532	9.61e-26	SMART
HOX	553	615	3.01e-21	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000175703
AA Change: T25A

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175768

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222900

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223058

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

100% (35/35)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and of normal size with no apparent phenotypic abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 79,099,699	D1406G	possibly damaging	Het
Aebp2	T	C	6: 140,633,898		probably null	Het
Ap5m1	T	A	14: 49,083,882	Y49*	probably null	Het
Atp8b5	T	C	4: 43,361,953		probably benign	Het
Baz1a	A	G	12: 54,923,439	S518P	probably damaging	Het
Ces1c	T	A	8: 93,104,193	D445V	probably benign	Het
Ctnnbl1	C	T	2: 157,871,186	H464Y	probably benign	Het
Cyp2j6	T	C	4: 96,531,781	K238E	probably benign	Het
Gdf10	G	A	14: 33,924,191	R99H	probably damaging	Het
Gm4779	G	A	X: 101,792,962	P116L	possibly damaging	Het
Gucy2g	A	G	19: 55,210,276	S812P	probably damaging	Het
Ifit3b	C	T	19: 34,612,017	Q198*	probably null	Het
Irgm1	A	T	11: 48,866,590	Y131*	probably null	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Myh7b	A	G	2: 155,632,255	N1630S	probably benign	Het
Myo5a	T	C	9: 75,116,202	I15T	probably damaging	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nme6	A	G	9: 109,842,091		probably benign	Het
Olfr1040	T	C	2: 86,146,564	T57A	probably damaging	Het
Olfr741	T	A	14: 50,485,608	I50N	probably damaging	Het
Plch2	T	G	4: 154,990,767	M797L	probably benign	Het
Plscr2	G	T	9: 92,290,671	E128*	probably null	Het
Plxna2	T	A	1: 194,797,731	D1403E	probably damaging	Het
Psmb11	T	C	14: 54,625,343	V6A	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ptprd	T	G	4: 76,107,324	S546R	probably benign	Het
Rbp3	A	G	14: 33,954,454	N120D	probably benign	Het
Skint1	C	A	4: 112,021,330	P153H	possibly damaging	Het
Slc15a4	A	G	5: 127,604,536		probably null	Het
Tmem201	A	G	4: 149,722,445		probably benign	Het
Ube2v1	T	C	2: 167,610,336	N89D	probably damaging	Het
Zfp282	A	T	6: 47,897,932		probably null	Het
Zfp560	C	A	9: 20,348,944	M207I	probably benign	Het
Zfp697	T	C	3: 98,428,301	Y461H	probably damaging	Het

Other mutations in Pou6f2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00486:Pou6f2	APN	13	18139585	missense	probably damaging	1.00
IGL03046:Pou6f2	UTSW	13	18129027	utr 3 prime	probably benign
PIT4402001:Pou6f2	UTSW	13	18125346	missense
PIT4519001:Pou6f2	UTSW	13	18239564	missense	unknown
R0349:Pou6f2	UTSW	13	18152004	missense	probably damaging	1.00
R0510:Pou6f2	UTSW	13	18139723	splice site	probably benign
R1449:Pou6f2	UTSW	13	18172415	missense	probably damaging	1.00
R1911:Pou6f2	UTSW	13	18151963	missense	probably damaging	0.98
R5193:Pou6f2	UTSW	13	18125544	utr 3 prime	probably benign
R5218:Pou6f2	UTSW	13	18152001	missense	probably damaging	1.00
R6226:Pou6f2	UTSW	13	18129154	missense	possibly damaging	0.83
R6747:Pou6f2	UTSW	13	18129187	missense	probably benign	0.26
R6805:Pou6f2	UTSW	13	18239489	missense
R6978:Pou6f2	UTSW	13	18172478	missense	probably damaging	1.00
R7072:Pou6f2	UTSW	13	18125169	missense
R7158:Pou6f2	UTSW	13	18152038	missense
R7187:Pou6f2	UTSW	13	18239713	missense
R7198:Pou6f2	UTSW	13	18129163	missense	probably damaging	0.97
R7203:Pou6f2	UTSW	13	18239794	missense	unknown
R7241:Pou6f2	UTSW	13	18125289	missense
R7307:Pou6f2	UTSW	13	18239713	missense
R7827:Pou6f2	UTSW	13	18378507	missense

Predicted Primers

Posted On

2017-05-15