Mutagenetix > Incidental Mutation

Incidental Mutation 'R8888:Pou3f1'

677472

Institutional Source

Beutler Lab

Gene Symbol

Pou3f1

Ensembl Gene

ENSMUSG00000090125

Gene Name

POU domain, class 3, transcription factor 1

Synonyms

Scip, Otf6, Oct6, Tst1, Test1, Oct-6, Tst-1

MMRRC Submission

068692-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8888 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

124551439-124554448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 124552152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glycine at position 218 (A218G)

Ref Sequence

ENSEMBL: ENSMUSP00000137374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053491]

AlphaFold

P21952

PDB Structure

CRYSTAL STRUCTURE OF THE DIMERIC OCT-6 (POU3F1) POU DOMAIN BOUND TO PALINDROMIC MORE DNA [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053491
AA Change: A218G

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000137374
Gene: ENSMUSG00000090125
AA Change: A218G

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
low complexity region	27	43	N/A	INTRINSIC
low complexity region	75	109	N/A	INTRINSIC
low complexity region	116	134	N/A	INTRINSIC
low complexity region	136	148	N/A	INTRINSIC
low complexity region	154	189	N/A	INTRINSIC
low complexity region	202	236	N/A	INTRINSIC
POU	245	319	1.26e-52	SMART
HOX	337	399	2.15e-17	SMART
low complexity region	411	447	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (78/78)

MGI Phenotype

PHENOTYPE: Homozygotes for targeted null mutations exhibit cyanosis and respiratory distress at birth and defective peripheral myelination due to arrested Scwann cell maturation. Mutants usually die at birth or shortly thereafter. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1a1	A	G	4: 116,498,260 (GRCm39)	L95P	probably damaging	Het
Amigo2	G	T	15: 97,143,389 (GRCm39)	N344K	probably damaging	Het
Ankrd11	T	C	8: 123,621,014 (GRCm39)	D946G	possibly damaging	Het
Ankrd12	T	C	17: 66,338,568 (GRCm39)		probably null	Het
Atp8b5	A	G	4: 43,304,687 (GRCm39)	N66S		Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Birc6	G	A	17: 74,835,533 (GRCm39)	S24N	probably null	Het
Bzw2	A	T	12: 36,173,982 (GRCm39)	C97*	probably null	Het
Capn12	T	A	7: 28,585,949 (GRCm39)		probably benign	Het
Cdh1	T	A	8: 107,330,971 (GRCm39)	F34Y	probably damaging	Het
Cdh5	T	C	8: 104,852,092 (GRCm39)	I69T	possibly damaging	Het
Celsr2	G	A	3: 108,320,880 (GRCm39)	T644I	possibly damaging	Het
Cep85l	A	T	10: 53,224,911 (GRCm39)	L226Q	possibly damaging	Het
Clasp2	T	A	9: 113,732,936 (GRCm39)	M924K	possibly damaging	Het
Col3a1	G	A	1: 45,379,139 (GRCm39)	A850T	unknown	Het
Cped1	C	T	6: 22,016,962 (GRCm39)	P104S	possibly damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2c69	T	C	19: 39,869,910 (GRCm39)	D104G	possibly damaging	Het
Daw1	T	A	1: 83,187,011 (GRCm39)	C274S	probably damaging	Het
Dmtn	T	C	14: 70,850,144 (GRCm39)	T267A	probably benign	Het
Dock5	A	G	14: 68,055,112 (GRCm39)	Y585H	possibly damaging	Het
Dop1a	A	G	9: 86,403,587 (GRCm39)	I132V	probably benign	Het
Dpysl5	C	T	5: 30,902,687 (GRCm39)	R40C	probably benign	Het
Dsg2	T	G	18: 20,723,126 (GRCm39)	V384G	probably damaging	Het
Elmo1	C	T	13: 20,748,630 (GRCm39)	L492F	probably damaging	Het
Epg5	C	A	18: 78,056,086 (GRCm39)	D1753E	possibly damaging	Het
Ext1	T	C	15: 52,955,723 (GRCm39)	Y458C	probably damaging	Het
Folr2	C	T	7: 101,489,408 (GRCm39)	V244M	unknown	Het
Frmd6	C	A	12: 70,940,646 (GRCm39)	H430Q	possibly damaging	Het
Galnt18	T	C	7: 111,378,709 (GRCm39)	I16V	possibly damaging	Het
Gm10036	C	A	18: 15,966,207 (GRCm39)	Y119*	probably null	Het
Gria4	A	G	9: 4,664,951 (GRCm39)	S102P	probably damaging	Het
Hc	A	T	2: 34,890,861 (GRCm39)	N1318K	probably benign	Het
Htr2a	C	T	14: 74,882,617 (GRCm39)	T201I	possibly damaging	Het
Ifitm1	T	C	7: 140,549,499 (GRCm39)	L94P	probably damaging	Het
Iqca1l	T	C	5: 24,755,628 (GRCm39)	D298G	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kank4	C	T	4: 98,653,747 (GRCm39)	V894I	possibly damaging	Het
Kcnip2	T	A	19: 45,785,100 (GRCm39)		probably benign	Het
Klhl29	A	T	12: 5,187,542 (GRCm39)	L274H	possibly damaging	Het
Lamb1	A	G	12: 31,352,953 (GRCm39)	T885A	possibly damaging	Het
Ldc1	T	C	4: 130,105,223 (GRCm39)	K316E	probably benign	Het
Lipi	A	T	16: 75,352,710 (GRCm39)	L376I	probably benign	Het
Lrrc37	T	A	11: 103,509,656 (GRCm39)	T771S	unknown	Het
Malrd1	A	T	2: 15,850,038 (GRCm39)	N1219I	unknown	Het
Mrc1	A	C	2: 14,312,760 (GRCm39)	N894T	probably damaging	Het
Mrpl35	C	T	6: 71,793,271 (GRCm39)	A127T	possibly damaging	Het
Naip2	T	C	13: 100,325,644 (GRCm39)	H88R	probably benign	Het
Nek5	C	T	8: 22,580,495 (GRCm39)		probably null	Het
Nlrc5	G	A	8: 95,252,118 (GRCm39)	V1880I	probably benign	Het
Noc3l	T	A	19: 38,798,751 (GRCm39)	K282N	probably damaging	Het
Nwd2	T	C	5: 63,963,241 (GRCm39)	Y942H	probably damaging	Het
Or10ag2	T	C	2: 87,248,659 (GRCm39)	V87A	probably benign	Het
Or4f62	G	A	2: 111,986,974 (GRCm39)	R226H	probably benign	Het
Or52d1	T	A	7: 103,756,302 (GRCm39)	I272N	probably damaging	Het
Osbpl9	C	A	4: 108,930,333 (GRCm39)	A221S	probably benign	Het
Paip1	T	C	13: 119,566,801 (GRCm39)	L45S	probably benign	Het
Pccb	A	T	9: 100,905,305 (GRCm39)		probably benign	Het
Pgap3	A	G	11: 98,281,602 (GRCm39)	F199L	possibly damaging	Het
Pik3c2g	A	T	6: 139,676,092 (GRCm39)	K79*	probably null	Het
Ptk2b	T	A	14: 66,412,242 (GRCm39)	N383I	probably benign	Het
Rad52	C	T	6: 119,890,041 (GRCm39)	R56C	probably damaging	Het
Rdh7	A	T	10: 127,724,430 (GRCm39)	F18Y	probably benign	Het
Scart2	C	T	7: 139,841,532 (GRCm39)	P279S	possibly damaging	Het
Septin5	A	G	16: 18,441,861 (GRCm39)	M315T	possibly damaging	Het
Slc27a6	A	G	18: 58,715,306 (GRCm39)	Y303C	probably damaging	Het
Slc7a7	T	A	14: 54,607,293 (GRCm39)	M495L	probably benign	Het
Sntg1	T	A	1: 8,748,074 (GRCm39)		probably null	Het
Spdye4a	T	G	5: 143,211,418 (GRCm39)	S49R	probably benign	Het
Spred2	T	A	11: 19,951,019 (GRCm39)	I72N	probably benign	Het
Stox1	A	T	10: 62,495,386 (GRCm39)	H962Q	probably benign	Het
Susd2	G	T	10: 75,475,452 (GRCm39)	A484D	possibly damaging	Het
Syt14	A	G	1: 192,579,866 (GRCm39)	S473P	probably damaging	Het
Tpx2	T	C	2: 152,724,255 (GRCm39)	Y344H	probably damaging	Het
Ttc17	T	C	2: 94,157,049 (GRCm39)	N411S	probably benign	Het
Ttf2	A	T	3: 100,870,028 (GRCm39)	F348L	probably benign	Het
Ttn	A	T	2: 76,663,650 (GRCm39)	V11675E	unknown	Het
Usp2	G	T	9: 43,986,894 (GRCm39)	R64L	probably benign	Het

Other mutations in Pou3f1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01700:Pou3f1	APN	4	124,552,650 (GRCm39)	missense	probably damaging	1.00
IGL02981:Pou3f1	APN	4	124,552,236 (GRCm39)	missense	probably damaging	0.99
R0433:Pou3f1	UTSW	4	124,552,697 (GRCm39)	missense	probably damaging	1.00
R4606:Pou3f1	UTSW	4	124,552,629 (GRCm39)	missense	probably damaging	1.00
R5033:Pou3f1	UTSW	4	124,552,449 (GRCm39)	missense	probably damaging	1.00
R7807:Pou3f1	UTSW	4	124,552,074 (GRCm39)	missense	possibly damaging	0.85
R7891:Pou3f1	UTSW	4	124,552,232 (GRCm39)	missense	probably damaging	0.99
R8008:Pou3f1	UTSW	4	124,552,764 (GRCm39)	missense	unknown
R8691:Pou3f1	UTSW	4	124,551,549 (GRCm39)	missense	unknown
R8782:Pou3f1	UTSW	4	124,552,807 (GRCm39)	small deletion	probably benign
R8922:Pou3f1	UTSW	4	124,552,176 (GRCm39)	missense	possibly damaging	0.85
R9492:Pou3f1	UTSW	4	124,552,179 (GRCm39)	missense	possibly damaging	0.53
R9513:Pou3f1	UTSW	4	124,552,835 (GRCm39)	missense	probably benign	0.04
RF016:Pou3f1	UTSW	4	124,551,602 (GRCm39)	small insertion	probably benign
RF032:Pou3f1	UTSW	4	124,551,598 (GRCm39)	small insertion	probably benign
RF050:Pou3f1	UTSW	4	124,551,597 (GRCm39)	small insertion	probably benign
RF055:Pou3f1	UTSW	4	124,551,589 (GRCm39)	small insertion	probably benign
RF060:Pou3f1	UTSW	4	124,551,602 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGAAGCTGATGCACCACGAG -3'
(R):5'- GGTCTGCGAGAACACGTTAC -3'

Sequencing Primer
(F):5'- TCAATGGCTACCCACGGGAG -3'
(R):5'- TTACCGTAGAGGGTGCCCAG -3'

Posted On

2021-08-02