Mutagenetix > Incidental Mutation

Incidental Mutation 'R5617:Pou6f1'

439604

Institutional Source

Beutler Lab

Gene Symbol

Pou6f1

Ensembl Gene

ENSMUSG00000009739

Gene Name

POU domain, class 6, transcription factor 1

Synonyms

cns-1, 2310038G18Rik, Emb

MMRRC Submission

043276-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.619) question?

Stock #

R5617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100473199-100497865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100483874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 208 (T208M)

Ref Sequence

ENSEMBL: ENSMUSP00000073504 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058274] [ENSMUST00000073837] [ENSMUST00000176271] [ENSMUST00000176300] [ENSMUST00000177202]

AlphaFold

Q07916

Predicted Effect

probably benign
Transcript: ENSMUST00000058274

SMART Domains

Protein: ENSMUSP00000049955
Gene: ENSMUSG00000009739

Domain	Start	End	E-Value	Type
low complexity region	113	132	N/A	INTRINSIC
low complexity region	181	193	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000073837
AA Change: T208M

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000073504
Gene: ENSMUSG00000009739
AA Change: T208M

Domain	Start	End	E-Value	Type
low complexity region	174	232	N/A	INTRINSIC
POU	414	488	6.32e-44	SMART
HOX	509	571	7.03e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176140

SMART Domains

Protein: ENSMUSP00000135670
Gene: ENSMUSG00000009739

Domain	Start	End	E-Value	Type
POU	139	213	6.32e-44	SMART
HOX	234	296	7.03e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176271

SMART Domains

Protein: ENSMUSP00000134760
Gene: ENSMUSG00000009739

Domain	Start	End	E-Value	Type
POU	139	213	6.32e-44	SMART
HOX	234	296	7.03e-22	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176271

Predicted Effect

probably benign
Transcript: ENSMUST00000176300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176881

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205510

Predicted Effect

probably benign
Transcript: ENSMUST00000177202

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230790

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177247

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,227,891 (GRCm39)	L645F	probably benign	Het
Acss3	T	C	10: 106,787,851 (GRCm39)	Y522C	probably damaging	Het
Asb18	A	G	1: 89,882,184 (GRCm39)	V118A	possibly damaging	Het
Aste1	T	A	9: 105,275,034 (GRCm39)	C8S	probably benign	Het
Atp10a	A	G	7: 58,453,423 (GRCm39)	S834G	probably benign	Het
Cdh18	A	G	15: 23,226,854 (GRCm39)	D105G	probably damaging	Het
Cenpb	T	C	2: 131,020,934 (GRCm39)	E288G	probably damaging	Het
Clcnka	C	T	4: 141,116,628 (GRCm39)	G541D	probably null	Het
Dctn3	T	C	4: 41,716,407 (GRCm39)	I134V	possibly damaging	Het
Dennd4b	T	C	3: 90,182,933 (GRCm39)	S917P	probably benign	Het
Fam135b	A	T	15: 71,493,865 (GRCm39)	D21E	probably damaging	Het
Fam174a	T	C	1: 95,241,972 (GRCm39)	V144A	probably damaging	Het
Fbxo38	A	G	18: 62,639,042 (GRCm39)	Y1087H	probably damaging	Het
Gm7275	A	T	16: 47,894,527 (GRCm39)		noncoding transcript	Het
Gm9271	G	T	7: 39,013,076 (GRCm39)		noncoding transcript	Het
Grm2	T	C	9: 106,528,275 (GRCm39)		probably null	Het
Htt	T	A	5: 35,028,150 (GRCm39)	V1802D	possibly damaging	Het
Ighv1-75	C	A	12: 115,797,874 (GRCm39)	G16V	probably benign	Het
Krt78	G	A	15: 101,856,044 (GRCm39)	T589I	probably damaging	Het
Lama3	T	C	18: 12,631,993 (GRCm39)		probably benign	Het
Lbr	A	T	1: 181,656,467 (GRCm39)	V227D	probably benign	Het
Lsamp	T	C	16: 41,954,786 (GRCm39)	V211A	probably damaging	Het
Map3k19	G	A	1: 127,750,703 (GRCm39)	R883C	probably damaging	Het
Marchf8	A	C	6: 116,380,481 (GRCm39)	I111L	possibly damaging	Het
Mrps10	T	A	17: 47,689,167 (GRCm39)	M187K	probably benign	Het
Ncdn	G	A	4: 126,638,840 (GRCm39)	R660C	probably damaging	Het
Notum	A	T	11: 120,547,171 (GRCm39)	Y332*	probably null	Het
Nr1h5	A	T	3: 102,855,145 (GRCm39)	L319I	probably damaging	Het
Or51q1	A	T	7: 103,628,921 (GRCm39)	H180L	possibly damaging	Het
Or8k35	T	A	2: 86,424,345 (GRCm39)	I276L	probably benign	Het
Osbpl5	T	C	7: 143,246,684 (GRCm39)	D765G	possibly damaging	Het
Parp3	C	T	9: 106,351,704 (GRCm39)	V170M	possibly damaging	Het
Pcdh15	A	G	10: 74,471,504 (GRCm39)		probably benign	Het
Pcdha9	T	G	18: 37,131,869 (GRCm39)	S313A	probably benign	Het
Pfkm	A	G	15: 98,020,107 (GRCm39)	R201G	possibly damaging	Het
Pgm5	G	A	19: 24,727,765 (GRCm39)	R375*	probably null	Het
Phactr2	A	G	10: 13,349,809 (GRCm39)	S72P	possibly damaging	Het
Plaat1	A	T	16: 29,039,162 (GRCm39)	R81*	probably null	Het
Plec	A	G	15: 76,058,732 (GRCm39)	L3600P	probably damaging	Het
Rabep1	C	T	11: 70,808,355 (GRCm39)	S394L	probably damaging	Het
Ranbp2	T	G	10: 58,301,489 (GRCm39)	F687C	probably damaging	Het
Ranbp6	A	G	19: 29,789,863 (GRCm39)	F163S	probably damaging	Het
Rcor3	T	C	1: 191,804,430 (GRCm39)	N240D	probably benign	Het
Samd13	C	A	3: 146,352,065 (GRCm39)	K95N	probably benign	Het
Slc25a17	G	T	15: 81,244,975 (GRCm39)		probably benign	Het
Slfn8	G	T	11: 82,895,547 (GRCm39)	H420N	probably benign	Het
Sptbn5	G	A	2: 119,876,965 (GRCm39)		probably benign	Het
Stim2	G	A	5: 54,267,075 (GRCm39)	E21K	probably damaging	Het
Tmem163	A	G	1: 127,479,067 (GRCm39)	Y151H	possibly damaging	Het
Trio	A	G	15: 27,902,834 (GRCm39)	I209T	probably benign	Het
Tubal3	T	A	13: 3,983,432 (GRCm39)	L404H	probably damaging	Het
Ubqln3	A	G	7: 103,791,640 (GRCm39)	F150S	probably damaging	Het
Ubr5	T	C	15: 38,030,901 (GRCm39)	S425G	possibly damaging	Het
Vmn2r52	T	A	7: 9,904,861 (GRCm39)	H326L	probably damaging	Het

Other mutations in Pou6f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00480:Pou6f1	APN	15	100,477,928 (GRCm39)	splice site	probably benign
IGL02451:Pou6f1	APN	15	100,477,821 (GRCm39)	missense	possibly damaging	0.80
IGL02545:Pou6f1	APN	15	100,481,306 (GRCm39)	nonsense	probably null
R0076:Pou6f1	UTSW	15	100,485,717 (GRCm39)	nonsense	probably null
R0076:Pou6f1	UTSW	15	100,485,717 (GRCm39)	nonsense	probably null
R0212:Pou6f1	UTSW	15	100,478,696 (GRCm39)	missense	possibly damaging	0.75
R1297:Pou6f1	UTSW	15	100,476,186 (GRCm39)	missense	probably damaging	1.00
R2863:Pou6f1	UTSW	15	100,478,689 (GRCm39)	splice site	probably null
R2905:Pou6f1	UTSW	15	100,483,839 (GRCm39)	missense	probably benign
R3418:Pou6f1	UTSW	15	100,478,805 (GRCm39)	missense	probably benign	0.00
R4161:Pou6f1	UTSW	15	100,478,724 (GRCm39)	missense	probably damaging	0.98
R4793:Pou6f1	UTSW	15	100,476,293 (GRCm39)	missense	probably damaging	1.00
R5947:Pou6f1	UTSW	15	100,484,001 (GRCm39)	missense	possibly damaging	0.77
R6261:Pou6f1	UTSW	15	100,477,827 (GRCm39)	missense	probably damaging	0.99
R6731:Pou6f1	UTSW	15	100,477,764 (GRCm39)	missense	possibly damaging	0.57
R7696:Pou6f1	UTSW	15	100,481,979 (GRCm39)	missense	probably benign	0.30
R8795:Pou6f1	UTSW	15	100,485,686 (GRCm39)	missense	possibly damaging	0.68
R8941:Pou6f1	UTSW	15	100,489,742 (GRCm39)	missense	probably damaging	0.99
R9114:Pou6f1	UTSW	15	100,478,789 (GRCm39)	missense	probably benign	0.28
R9731:Pou6f1	UTSW	15	100,476,206 (GRCm39)	missense	possibly damaging	0.91
R9737:Pou6f1	UTSW	15	100,481,282 (GRCm39)	missense	probably benign	0.01
X0019:Pou6f1	UTSW	15	100,481,203 (GRCm39)	missense	probably damaging	0.99
Z1177:Pou6f1	UTSW	15	100,481,122 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- AATGGCTGTGTTCAAGGAGC -3'
(R):5'- AGATCCCTTGGGACTGGAACTG -3'

Sequencing Primer
(F):5'- TCCACTGTGGGGGACATTC -3'
(R):5'- AACTGTGCCGCGTCATG -3'

Posted On

2016-11-08