Mutagenetix > Incidental Mutation

Incidental Mutation 'R6467:Kcmf1'

516638

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

044600-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72818097-72876962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 72820082 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 306 (R306C)

Ref Sequence

ENSEMBL: ENSMUSP00000064410 (fasta)

Gene Model

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

AlphaFold

Q80UY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000068697
AA Change: R306C

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000064410
Gene: ENSMUSG00000055239
AA Change: R306C

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: ENSMUST00000203004

Predicted Effect

probably damaging
Transcript: ENSMUST00000204598
AA Change: R255C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144910
Gene: ENSMUSG00000055239
AA Change: R255C

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: ENSMUST00000206378

Meta Mutation Damage Score

0.2073

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (72/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	T	C	15: 101,092,722 (GRCm39)	W122R	possibly damaging	Het
Adgrv1	C	T	13: 81,592,657 (GRCm39)	R4294H	probably benign	Het
Afdn	A	G	17: 14,024,315 (GRCm39)	T74A	probably damaging	Het
Aff3	T	A	1: 38,247,098 (GRCm39)	D829V	probably benign	Het
Akr1c12	T	C	13: 4,325,772 (GRCm39)	Q107R	probably benign	Het
Apc	T	A	18: 34,402,252 (GRCm39)	F131I	probably benign	Het
Atosb	A	T	4: 43,033,687 (GRCm39)	F489I	probably damaging	Het
Atp13a1	T	A	8: 70,259,424 (GRCm39)	L1036H	probably damaging	Het
BC035044	A	C	6: 128,867,855 (GRCm39)		probably benign	Het
C1rl	A	G	6: 124,485,535 (GRCm39)	D302G	probably benign	Het
C2cd6	A	C	1: 59,117,093 (GRCm39)	D133E	probably benign	Het
Cacna1c	T	A	6: 118,629,671 (GRCm39)	Y1061F	probably damaging	Het
Cav1	A	G	6: 17,308,034 (GRCm39)	D62G	probably damaging	Het
Ccdc77	T	C	6: 120,327,242 (GRCm39)	M68V	probably damaging	Het
Cd55	A	T	1: 130,375,348 (GRCm39)		probably benign	Het
Cdc27	C	A	11: 104,413,602 (GRCm39)	A380S	probably damaging	Het
Cenpb	A	T	2: 131,021,477 (GRCm39)	I107K	probably damaging	Het
Cep135	T	G	5: 76,769,187 (GRCm39)	H612Q	possibly damaging	Het
Chd1l	A	T	3: 97,470,849 (GRCm39)	N815K	probably damaging	Het
Cldn20	C	T	17: 3,582,992 (GRCm39)	T55M	possibly damaging	Het
Depdc1a	A	T	3: 159,221,679 (GRCm39)	I208L	probably benign	Het
Dgkb	C	T	12: 38,134,223 (GRCm39)	A43V	possibly damaging	Het
Dgkb	C	T	12: 38,654,104 (GRCm39)	T741I	probably damaging	Het
Dhx16	A	G	17: 36,197,076 (GRCm39)	N653S	probably damaging	Het
Dnah5	T	A	15: 28,438,329 (GRCm39)	S3987T	probably benign	Het
Dnai4	T	C	4: 102,906,758 (GRCm39)	D685G	probably damaging	Het
Dst	T	A	1: 34,334,277 (GRCm39)	I4835N	probably damaging	Het
Esrrb	A	G	12: 86,561,114 (GRCm39)	I288V	probably damaging	Het
Fnta	C	T	8: 26,497,341 (GRCm39)	W169*	probably null	Het
Golga4	T	C	9: 118,365,860 (GRCm39)	L304P	probably damaging	Het
Hace1	A	G	10: 45,466,362 (GRCm39)		probably null	Het
Ino80b	G	T	6: 83,101,112 (GRCm39)		probably null	Het
Lrrc46	G	A	11: 96,927,305 (GRCm39)	T92I	possibly damaging	Het
Man2b1	T	C	8: 85,824,076 (GRCm39)	V991A	possibly damaging	Het
Mga	A	G	2: 119,776,776 (GRCm39)	N1770S	probably damaging	Het
Mgat4e	T	C	1: 134,468,944 (GRCm39)	T367A	probably benign	Het
Mtr	A	G	13: 12,202,992 (GRCm39)	S1204P	probably damaging	Het
Myo15a	G	A	11: 60,417,487 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,560,585 (GRCm39)	S74P	probably damaging	Het
Noct	T	C	3: 51,157,508 (GRCm39)	V282A	possibly damaging	Het
Nol11	A	T	11: 107,071,912 (GRCm39)	I227K	possibly damaging	Het
Nsd3	T	A	8: 26,130,646 (GRCm39)	S4T	probably damaging	Het
Or5m10b	T	A	2: 85,699,714 (GRCm39)	Y259*	probably null	Het
Or5p64	A	G	7: 107,855,109 (GRCm39)	S79P	probably damaging	Het
Pds5a	T	A	5: 65,809,782 (GRCm39)	L393F	probably damaging	Het
Prex2	C	T	1: 11,336,259 (GRCm39)	R1486C	probably damaging	Het
Rc3h2	T	C	2: 37,272,028 (GRCm39)	T768A	probably damaging	Het
Rin3	A	T	12: 102,335,584 (GRCm39)	E418D	probably benign	Het
Rnf214	G	T	9: 45,778,886 (GRCm39)	T586N	probably damaging	Het
Samd4b	A	G	7: 28,101,285 (GRCm39)	S667P	probably damaging	Het
Sec14l2	T	C	11: 4,061,161 (GRCm39)	Y100C	probably damaging	Het
Slc46a2	T	C	4: 59,914,077 (GRCm39)	E282G	probably benign	Het
Themis	A	C	10: 28,657,762 (GRCm39)	N110T	possibly damaging	Het
Tln1	C	A	4: 43,543,165 (GRCm39)	S1333I	probably benign	Het
Tmem53	T	C	4: 117,125,625 (GRCm39)	V224A	possibly damaging	Het
Tmtc4	T	A	14: 123,163,391 (GRCm39)	K664N	possibly damaging	Het
Tnni3k	T	C	3: 154,674,922 (GRCm39)	D201G	probably damaging	Het
Tnxb	A	G	17: 34,912,898 (GRCm39)	E1681G	probably damaging	Het
Trhde	A	T	10: 114,340,103 (GRCm39)	D567E	probably damaging	Het
Tsc2	T	C	17: 24,828,101 (GRCm39)	M788V	probably benign	Het
Ube3a	A	G	7: 58,926,650 (GRCm39)	Y476C	probably damaging	Het
Ubiad1	T	C	4: 148,520,682 (GRCm39)	N314S	possibly damaging	Het
Unc79	T	A	12: 103,139,771 (GRCm39)	N2375K	probably damaging	Het
Vmn2r107	A	T	17: 20,595,939 (GRCm39)	I831F	probably damaging	Het
Vwa3b	T	A	1: 37,124,367 (GRCm39)	C322S	probably benign	Het
Wnk1	A	T	6: 119,939,916 (GRCm39)	H238Q	probably benign	Het
Wnk2	A	G	13: 49,300,081 (GRCm39)	Y210H	probably damaging	Het
Wwc2	T	C	8: 48,304,943 (GRCm39)	D894G	unknown	Het
Yes1	T	A	5: 32,810,381 (GRCm39)	F180Y	probably damaging	Het
Yju2b	T	C	8: 84,985,318 (GRCm39)	E317G	probably benign	Het
Zbtb46	T	C	2: 181,033,062 (GRCm39)	Y533C	probably damaging	Het
Zfp57	T	C	17: 37,316,942 (GRCm39)	S7P	possibly damaging	Het
Zzef1	T	C	11: 72,802,090 (GRCm39)		probably null	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
R3103:Kcmf1	UTSW	6	72,838,830 (GRCm39)	missense	probably damaging	1.00
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
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'- GCACAGAGGACATTGTCTTCG -3'
(R):5'- CAGGTTTGAAACACAGTGTGG -3'

Sequencing Primer
(F):5'- ACAGAGGACATTGTCTTCGAGTGG -3'
(R):5'- CACAGTGTGGAGATTTATCCGAAC -3'

Posted On

2018-05-21