Mutagenetix > Incidental Mutation

Incidental Mutation 'R3418:Pou6f1'

266928

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

040636-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.619) question?

Stock #

R3418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100473199-100497865 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100478805 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 368 (V368L)

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

probably benign
Transcript: ENSMUST00000073837
AA Change: V368L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000073504
Gene: ENSMUSG00000009739
AA Change: V368L

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
AA Change: V93L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000134760
Gene: ENSMUSG00000009739
AA Change: V93L

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
AA Change: V93L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000176300

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176492
AA Change: V148L

Predicted Effect

probably benign
Transcript: ENSMUST00000184908
AA Change: V93L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000139023
Gene: ENSMUSG00000098598
AA Change: V93L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177335

SMART Domains

Protein: ENSMUSP00000135627
Gene: ENSMUSG00000009739

Domain	Start	End	E-Value	Type
POU	28	102	6.32e-44	SMART
HOX	123	185	7.03e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230790

Predicted Effect

probably benign
Transcript: ENSMUST00000177202

Meta Mutation Damage Score

0.0705

Coding Region Coverage

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

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Acaa1a	A	G	9: 119,178,556 (GRCm39)		probably null	Het
Agbl5	T	C	5: 31,062,067 (GRCm39)	S756P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Cdc16	C	T	8: 13,819,489 (GRCm39)	Q362*	probably null	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Cep170b	C	T	12: 112,704,902 (GRCm39)	Q887*	probably null	Het
Chd9	T	C	8: 91,763,219 (GRCm39)	I2348T	probably damaging	Het
Clec9a	A	G	6: 129,398,001 (GRCm39)		probably benign	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
D130040H23Rik	T	C	8: 69,755,579 (GRCm39)	I328T	probably benign	Het
Dido1	G	T	2: 180,302,728 (GRCm39)	D1725E	possibly damaging	Het
Dnajb14	A	G	3: 137,598,631 (GRCm39)	D123G	probably null	Het
Dock2	A	T	11: 34,580,587 (GRCm39)	M661K	probably damaging	Het
Esam	C	T	9: 37,448,426 (GRCm39)		probably null	Het
Fam20c	A	T	5: 138,743,623 (GRCm39)	N220Y	probably damaging	Het
Fat2	G	T	11: 55,169,824 (GRCm39)	H2978Q	probably benign	Het
Fbn1	T	C	2: 125,162,846 (GRCm39)	T2147A	possibly damaging	Het
Fdft1	T	C	14: 63,394,070 (GRCm39)	T214A	probably damaging	Het
Fhl5	T	C	4: 25,211,252 (GRCm39)	S147G	probably benign	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gcat	A	T	15: 78,926,297 (GRCm39)	T56S	possibly damaging	Het
Gemin5	A	T	11: 58,047,454 (GRCm39)		probably null	Het
Gm4736	A	T	6: 132,092,640 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,820,108 (GRCm39)	N368S	probably benign	Het
Gsto1	T	C	19: 47,846,344 (GRCm39)	F64L	probably benign	Het
Gucy1a1	A	G	3: 82,013,440 (GRCm39)	S401P	probably damaging	Het
Htr1f	G	A	16: 64,746,260 (GRCm39)	P344L	probably damaging	Het
Ighv7-3	T	A	12: 114,116,919 (GRCm39)	Y81F	probably damaging	Het
Jakmip3	C	A	7: 138,619,474 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,641 (GRCm39)	T194A	probably benign	Het
Khdrbs3	T	C	15: 68,921,224 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Myom2	T	G	8: 15,135,294 (GRCm39)	I499S	probably benign	Het
Nos2	T	A	11: 78,850,521 (GRCm39)	F1126L	possibly damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
P2ry1	T	C	3: 60,911,133 (GRCm39)	F91L	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rbm45	A	G	2: 76,209,362 (GRCm39)	E392G	probably damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Rnf222	G	T	11: 68,783,982 (GRCm39)	R183L	probably damaging	Het
Robo1	C	T	16: 72,832,805 (GRCm39)	T1526I	probably benign	Het
Sel1l	A	G	12: 91,776,776 (GRCm39)	W689R	probably damaging	Het
Serpinb13	T	C	1: 106,926,657 (GRCm39)	S218P	probably damaging	Het
Serpini1	A	G	3: 75,547,589 (GRCm39)	Y367C	probably damaging	Het
Slc13a2	A	G	11: 78,291,666 (GRCm39)	F329S	probably benign	Het
Smc2	T	C	4: 52,476,850 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,446 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tgfbr2	T	C	9: 115,958,901 (GRCm39)	Y146C	probably damaging	Het
Tnfrsf11a	A	G	1: 105,737,130 (GRCm39)	D79G	possibly damaging	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Ubn1	A	G	16: 4,892,243 (GRCm39)		probably benign	Het
Ubp1	T	C	9: 113,780,754 (GRCm39)		probably null	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	probably benign	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
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
R5617:Pou6f1	UTSW	15	100,483,874 (GRCm39)	missense	possibly damaging	0.95
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'- CTTGGCTATGTTTGAGGCAAAG -3'
(R):5'- ACAGTTTTGCTCTTCGATGACC -3'

Sequencing Primer
(F):5'- TTTGAGGCAAAGTCTCACTAGGC -3'
(R):5'- TGCTCTTCGATGACCACAGGTG -3'

Posted On

2015-02-18