Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4519001:Pou6f2'

555134

Institutional Source

Beutler Lab

Gene Symbol

Pou6f2

Ensembl Gene

ENSMUSG00000009734

Gene Name

POU domain, class 6, transcription factor 2

Synonyms

RPF-1, D130006K24Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

PIT4519001 (G1)

Quality Score

161.009

Status

Not validated

Chromosome

Chromosomal Location

18121098-18397686 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18239564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 209 (S209P)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000139064
AA Change: S209P

SMART Domains

Protein: ENSMUSP00000114173
Gene: ENSMUSG00000009734
AA Change: S209P

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: S209P

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 84.7%
20x: 70.8%

Validation Efficiency

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,170,666	M803K	probably benign	Het
4930590J08Rik	C	A	6: 91,917,057	N218K	probably damaging	Het
Abcc2	G	A	19: 43,819,397	V826M	possibly damaging	Het
Abcg2	T	C	6: 58,674,807	S395P	probably damaging	Het
Adam1b	C	T	5: 121,501,947	G345D	probably damaging	Het
Alx4	T	A	2: 93,675,428	C292S	probably benign	Het
Amd2	C	A	10: 35,710,631	C310F	possibly damaging	Het
BC051665	A	T	13: 60,784,175	S137T	possibly damaging	Het
Bmp1	A	G	14: 70,490,029	F705L	possibly damaging	Het
Coil	C	T	11: 88,972,726		probably benign	Het
Col6a6	G	A	9: 105,732,263	P1609S	probably benign	Het
Cpt1b	A	T	15: 89,418,863	F633I	probably damaging	Het
Dcun1d2	A	T	8: 13,261,406	D194E	probably benign	Het
Defb4	A	G	8: 19,198,736	R2G	possibly damaging	Het
Dll4	T	C	2: 119,332,416	V506A	probably benign	Het
Dopey2	A	G	16: 93,762,054	S563G	probably benign	Het
Dpp7	C	A	2: 25,352,448	G498W	probably damaging	Het
Fam210a	A	T	18: 68,275,949	S97T	possibly damaging	Het
Fastkd1	T	A	2: 69,690,157	D767V	probably damaging	Het
Fgg	A	T	3: 83,012,939	N342Y	probably damaging	Het
Gimap6	T	G	6: 48,708,061	R30S	probably benign	Het
Gm10840	T	C	11: 106,161,133	V95A	unknown	Het
Herc3	T	A	6: 58,876,811	I614N	probably damaging	Het
Kdr	A	T	5: 75,936,896	S1233R	possibly damaging	Het
Lrp1	C	G	10: 127,607,974	Q141H	possibly damaging	Het
Magi2	A	T	5: 20,661,346	K1078N	probably damaging	Het
Meioc	A	T	11: 102,679,957	E838V	probably damaging	Het
Mmp20	A	G	9: 7,628,301	K17E	probably benign	Het
Mtor	C	T	4: 148,524,500	R1538W	probably damaging	Het
Notch2	C	T	3: 98,098,108	T296I	probably damaging	Het
Nup98	T	C	7: 102,134,964	S1054G	probably benign	Het
Olfr1463	A	C	19: 13,234,852	I201L	probably benign	Het
Olfr308	T	C	7: 86,321,733	Y73C	probably damaging	Het
Olfr446	T	C	6: 42,927,644	C138R	probably damaging	Het
Olfr455	T	C	6: 42,538,600	T141A	probably damaging	Het
Pipox	C	A	11: 77,883,175	W205L	probably damaging	Het
Plin4	T	G	17: 56,103,828	T1068P	probably benign	Het
Ptpdc1	T	C	13: 48,583,156	T713A	probably benign	Het
Rgsl1	T	C	1: 153,825,970	Y246C	possibly damaging	Het
Rnf19b	C	T	4: 129,075,653	A354V	probably damaging	Het
Rsph4a	A	G	10: 33,909,130	T346A	probably benign	Het
Rsrc2	T	C	5: 123,745,072	T16A	unknown	Het
Scrn3	T	C	2: 73,318,424	V113A	possibly damaging	Het
Scrn3	T	A	2: 73,331,003	I311K	possibly damaging	Het
Sfmbt1	T	C	14: 30,784,191		probably null	Het
Sin3a	A	G	9: 57,095,456	I211V	possibly damaging	Het
Strn3	T	C	12: 51,633,708	T370A	probably benign	Het
Sulf1	T	G	1: 12,848,171	N786K	probably damaging	Het
Taf1b	T	A	12: 24,547,119	Y352*	probably null	Het
Tas2r120	T	A	6: 132,657,334	N126K	probably benign	Het
Tjap1	C	A	17: 46,261,506	R68L	probably benign	Het
Tnfsf12	C	T	11: 69,695,404	R66Q	probably benign	Het
Traj45	A	G	14: 54,172,846	D6G		Het
Trappc9	T	C	15: 72,953,094	T541A	probably benign	Het
Ttc29	A	C	8: 78,325,477	E329A	probably benign	Het
Vmn1r117	T	G	7: 20,883,235	D296A	possibly damaging	Het
Vmn1r203	A	G	13: 22,524,595	N182S	probably benign	Het
Vps53	C	A	11: 76,117,173	R287L	probably damaging	Het
Vwce	G	A	19: 10,664,582	E891K	possibly damaging	Het
Zfp608	T	C	18: 54,946,711	N334S	possibly damaging	Het
Zfp648	A	G	1: 154,204,941	H282R	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
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
R2971:Pou6f2	UTSW	13	18381967	missense	unknown
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
R7895:Pou6f2	UTSW	13	18125448	missense
R8070:Pou6f2	UTSW	13	18239624	missense	unknown
R8207:Pou6f2	UTSW	13	18239573	missense
R8334:Pou6f2	UTSW	13	18125406	missense	probably damaging	1.00
R8680:Pou6f2	UTSW	13	18239611	missense	unknown
R8830:Pou6f2	UTSW	13	18378498	missense
R9203:Pou6f2	UTSW	13	18129030	missense
R9462:Pou6f2	UTSW	13	18139604	missense	probably benign	0.03
Z1176:Pou6f2	UTSW	13	18378635	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GATGCTATGTCTTGCTGGCC -3'
(R):5'- TGAACTCCCAGCTGCAACAG -3'

Sequencing Primer
(F):5'- CTTCTGCCTGTGGGGACTGTAC -3'
(R):5'- GCAACTCCAGCTGCAACAG -3'

Posted On

2019-06-07