Mutagenetix > Incidental Mutation

Incidental Mutation 'R3103:Kcmf1'

262894

Institutional Source

Beutler Lab

Gene Symbol

Kcmf1

Ensembl Gene

ENSMUSG00000055239

Gene Name

potassium channel modulatory factor 1

Synonyms

1700094M07Rik, Pmcf, clone DEBT-91

MMRRC Submission

040577-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R3103 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

72818097-72876962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 72838830 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 32 (L32P)

Ref Sequence

ENSEMBL: ENSMUSP00000145559 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068697] [ENSMUST00000204598] [ENSMUST00000204708] [ENSMUST00000206378]

AlphaFold

Q80UY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000068697
AA Change: L32P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000064410
Gene: ENSMUSG00000055239
AA Change: L32P

Domain	Start	End	E-Value	Type
ZnF_ZZ	3	48	6.05e-14	SMART
ZnF_C2H2	78	101	3.16e-3	SMART
low complexity region	157	168	N/A	INTRINSIC
low complexity region	175	192	N/A	INTRINSIC
coiled coil region	224	259	N/A	INTRINSIC
low complexity region	331	340	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203431

Predicted Effect

probably benign
Transcript: ENSMUST00000204598

SMART Domains

Protein: ENSMUSP00000144910
Gene: ENSMUSG00000055239

Domain	Start	End	E-Value	Type
ZnF_C2H2	27	50	1.4e-5	SMART
Blast:ZnF_C2H2	57	85	9e-6	BLAST
low complexity region	106	117	N/A	INTRINSIC
low complexity region	124	141	N/A	INTRINSIC
coiled coil region	173	208	N/A	INTRINSIC
low complexity region	280	289	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000204708

Predicted Effect

probably damaging
Transcript: ENSMUST00000206378
AA Change: L32P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a gene trapped allele exhibit some perinatal and postnatal lethality but mice that survive to adulthood exhibit normal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	A	G	7: 28,310,409 (GRCm39)		probably null	Het
Adap2	G	T	11: 80,047,859 (GRCm39)	C105F	probably damaging	Het
Bace2	T	C	16: 97,223,201 (GRCm39)		probably null	Het
Bpifc	A	G	10: 85,829,286 (GRCm39)	S94P	probably damaging	Het
C2cd3	A	G	7: 100,044,459 (GRCm39)	D347G	possibly damaging	Het
Cad	T	C	5: 31,219,018 (GRCm39)	V613A	possibly damaging	Het
Ccdc47	T	C	11: 106,093,667 (GRCm39)	H6R	probably benign	Het
Celsr3	A	G	9: 108,714,338 (GRCm39)	T1956A	probably benign	Het
Cep128	T	A	12: 90,986,118 (GRCm39)	D1006V	probably damaging	Het
Cog3	T	C	14: 75,984,641 (GRCm39)		probably null	Het
Csmd1	C	T	8: 15,967,405 (GRCm39)	V3153M	probably damaging	Het
Ctnna2	T	C	6: 77,630,127 (GRCm39)	E122G	possibly damaging	Het
Cts8	T	A	13: 61,398,772 (GRCm39)	I245F	probably damaging	Het
Ddx27	T	A	2: 166,868,166 (GRCm39)	V333E	probably damaging	Het
Dmpk	A	G	7: 18,821,579 (GRCm39)	Y279C	probably damaging	Het
Dpagt1	A	G	9: 44,239,292 (GRCm39)	I111V	probably benign	Het
Dvl2	C	A	11: 69,899,695 (GRCm39)	P546T	possibly damaging	Het
Fat4	G	T	3: 38,946,089 (GRCm39)	A1661S	probably benign	Het
Gcm1	A	G	9: 77,971,734 (GRCm39)	N225S	probably damaging	Het
Gcnt2	A	T	13: 41,072,082 (GRCm39)	M242L	probably benign	Het
Golgb1	A	G	16: 36,715,211 (GRCm39)	R226G	probably damaging	Het
Gpr63	G	A	4: 25,007,353 (GRCm39)	V26I	probably benign	Het
Grik2	A	G	10: 49,116,868 (GRCm39)	L631P	probably damaging	Het
Hapln3	T	C	7: 78,771,484 (GRCm39)	D135G	probably benign	Het
Il31ra	C	A	13: 112,666,885 (GRCm39)	V398F	probably damaging	Het
Ipp	G	T	4: 116,381,446 (GRCm39)	R315L	possibly damaging	Het
Klf17	T	A	4: 117,617,805 (GRCm39)	Q184L	possibly damaging	Het
Lrp2	C	T	2: 69,262,328 (GRCm39)	V4442I	probably benign	Het
Lrrfip2	A	T	9: 111,051,278 (GRCm39)	E293D	probably damaging	Het
Oit3	A	G	10: 59,274,713 (GRCm39)	I29T	probably damaging	Het
Or1a1	G	A	11: 74,086,901 (GRCm39)	D191N	probably benign	Het
Or1j21	T	C	2: 36,683,574 (GRCm39)	C109R	possibly damaging	Het
Or51h1	T	C	7: 102,308,688 (GRCm39)	V220A	probably benign	Het
Plb1	T	A	5: 32,485,373 (GRCm39)	M842K	possibly damaging	Het
Ppt1	T	C	4: 122,730,100 (GRCm39)	C18R	probably benign	Het
Pstpip2	T	C	18: 77,959,477 (GRCm39)	Y191H	probably damaging	Het
Ryr1	C	T	7: 28,774,373 (GRCm39)	V2361I	probably damaging	Het
Serpinb11	A	G	1: 107,305,338 (GRCm39)	N238S	probably benign	Het
Skor2	A	T	18: 76,946,973 (GRCm39)	K232*	probably null	Het
Slc13a5	A	T	11: 72,148,214 (GRCm39)	W231R	probably damaging	Het
Svs5	A	T	2: 164,175,313 (GRCm39)	E55V	probably benign	Het
Tfcp2	A	T	15: 100,423,481 (GRCm39)	W142R	probably damaging	Het
Trpc2	A	T	7: 101,744,441 (GRCm39)	I738F	possibly damaging	Het
Vmn2r61	T	A	7: 41,916,067 (GRCm39)	S227T	possibly damaging	Het
Zfhx4	A	G	3: 5,464,386 (GRCm39)	T1540A	probably damaging	Het
Zfp616	A	G	11: 73,962,561 (GRCm39)	T74A	probably benign	Het

Other mutations in Kcmf1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02903:Kcmf1	APN	6	72,835,866 (GRCm39)	missense	possibly damaging	0.95
IGL03057:Kcmf1	APN	6	72,820,010 (GRCm39)	missense	probably benign	0.02
IGL03372:Kcmf1	APN	6	72,826,546 (GRCm39)	missense	probably damaging	0.99
IGL03098:Kcmf1	UTSW	6	72,826,567 (GRCm39)	start codon destroyed	probably null
R0080:Kcmf1	UTSW	6	72,827,470 (GRCm39)	splice site	probably null
R0082:Kcmf1	UTSW	6	72,827,470 (GRCm39)	splice site	probably null
R0226:Kcmf1	UTSW	6	72,819,935 (GRCm39)	missense	probably benign
R0402:Kcmf1	UTSW	6	72,826,568 (GRCm39)	start codon destroyed	probably null
R0412:Kcmf1	UTSW	6	72,825,224 (GRCm39)	nonsense	probably null
R0616:Kcmf1	UTSW	6	72,827,467 (GRCm39)	missense	probably benign	0.08
R1087:Kcmf1	UTSW	6	72,835,863 (GRCm39)	missense	probably damaging	1.00
R1383:Kcmf1	UTSW	6	72,826,565 (GRCm39)	missense	possibly damaging	0.94
R1533:Kcmf1	UTSW	6	72,820,003 (GRCm39)	missense	possibly damaging	0.49
R1544:Kcmf1	UTSW	6	72,825,212 (GRCm39)	missense	probably benign
R2355:Kcmf1	UTSW	6	72,827,466 (GRCm39)	missense	probably damaging	1.00
R2380:Kcmf1	UTSW	6	72,835,755 (GRCm39)	critical splice donor site	probably null
R4533:Kcmf1	UTSW	6	72,826,574 (GRCm39)	missense	probably damaging	1.00
R5450:Kcmf1	UTSW	6	72,819,913 (GRCm39)	nonsense	probably null
R5927:Kcmf1	UTSW	6	72,819,988 (GRCm39)	missense	possibly damaging	0.49
R6467:Kcmf1	UTSW	6	72,820,082 (GRCm39)	missense	probably damaging	0.99
R7048:Kcmf1	UTSW	6	72,826,450 (GRCm39)	missense	probably damaging	1.00
R7089:Kcmf1	UTSW	6	72,825,289 (GRCm39)	missense	probably benign	0.00
R7089:Kcmf1	UTSW	6	72,819,929 (GRCm39)	missense	probably benign	0.26
R9046:Kcmf1	UTSW	6	72,825,455 (GRCm39)	missense	probably damaging	1.00
R9360:Kcmf1	UTSW	6	72,838,826 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- CCAAGGGCTGAAAACTGTAATC -3'
(R):5'- TTTGAAAGGCTCTCTGGGCC -3'

Sequencing Primer
(F):5'- AATGAATCTGAACTCTTGGAGGTGC -3'
(R):5'- AAGGCTCTCTGGGCCAAATG -3'

Posted On

2015-02-05