Mutagenetix > Incidental Mutation

Incidental Mutation 'R7048:Kcmf1'

547431

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

045146-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R7048 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72818097-72876962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 72826450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 40 (R40K)

Ref Sequence

ENSEMBL: ENSMUSP00000144907 (fasta)

Gene Model

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

AlphaFold

Q80UY2

Predicted Effect

probably damaging
Transcript: ENSMUST00000068697
AA Change: R193K

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

SMART Domains

Protein: ENSMUSP00000064410
Gene: ENSMUSG00000055239
AA Change: R193K

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

probably damaging
Transcript: ENSMUST00000204598
AA Change: R142K

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

SMART Domains

Protein: ENSMUSP00000144910
Gene: ENSMUSG00000055239
AA Change: R142K

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 damaging
Transcript: ENSMUST00000204708
AA Change: R40K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206378

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

97% (66/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl2	T	C	3: 148,552,565 (GRCm39)	D629G	probably damaging	Het
Akap11	T	A	14: 78,749,954 (GRCm39)	Q811L		Het
Ank2	T	A	3: 126,819,267 (GRCm39)	Q468L	probably benign	Het
Ano3	A	T	2: 110,513,116 (GRCm39)	Y626*	probably null	Het
Ap1m1	A	G	8: 73,003,642 (GRCm39)	N114S	probably damaging	Het
Asb3	T	A	11: 31,051,121 (GRCm39)	I525N	probably damaging	Het
Atg4a-ps	A	G	3: 103,552,672 (GRCm39)	I223T	probably damaging	Het
B3gnt7	T	C	1: 86,233,308 (GRCm39)	Y68H	probably benign	Het
Bbs5	T	C	2: 69,484,705 (GRCm39)	I125T	probably benign	Het
Cd180	A	G	13: 102,841,431 (GRCm39)	N159S	probably damaging	Het
Cd37	T	C	7: 44,887,888 (GRCm39)		probably benign	Het
Cdk14	T	A	5: 5,143,005 (GRCm39)	Q242L	probably damaging	Het
Clcn1	T	C	6: 42,284,477 (GRCm39)	V605A	probably damaging	Het
Cped1	G	A	6: 22,119,469 (GRCm39)	M309I	probably benign	Het
Cyp2r1	A	T	7: 114,151,971 (GRCm39)	Y120N	probably damaging	Het
Ddx3y	A	T	Y: 1,279,491 (GRCm39)	S124R	probably benign	Het
Dlec1	A	T	9: 118,972,472 (GRCm39)		probably null	Het
Dnah17	T	C	11: 117,936,944 (GRCm39)	E3420G	possibly damaging	Het
Dnajc13	C	T	9: 104,080,613 (GRCm39)		probably null	Het
Dusp23	A	T	1: 172,459,253 (GRCm39)	Y136*	probably null	Het
Eif4b	A	G	15: 102,001,571 (GRCm39)		probably benign	Het
F13a1	A	G	13: 37,082,117 (GRCm39)	V529A	probably benign	Het
Fhl2	A	G	1: 43,162,808 (GRCm39)	Y236H	probably damaging	Het
Gm826	C	T	2: 160,169,026 (GRCm39)	W94*	probably null	Het
Gpsm2	C	T	3: 108,610,361 (GRCm39)	R33H	probably damaging	Het
Hmcn1	T	C	1: 150,475,404 (GRCm39)		probably null	Het
Ifit1bl2	T	C	19: 34,596,551 (GRCm39)	D355G	probably benign	Het
Itga8	A	G	2: 12,115,895 (GRCm39)	V77A	probably damaging	Het
Kdm7a	T	C	6: 39,145,982 (GRCm39)	E315G	probably damaging	Het
Kmt2b	C	T	7: 30,268,731 (GRCm39)	G2666D	probably damaging	Het
Lrrtm1	A	G	6: 77,221,152 (GRCm39)	N203S	probably damaging	Het
Mdn1	A	G	4: 32,767,969 (GRCm39)	N5301D	probably benign	Het
Mest	T	G	6: 30,742,723 (GRCm39)	H108Q	probably damaging	Het
Mettl25b	A	G	3: 87,837,167 (GRCm39)	I36T	probably damaging	Het
Moxd1	C	A	10: 24,157,374 (GRCm39)	D335E	probably damaging	Het
Ncf2	A	C	1: 152,683,921 (GRCm39)	N47H	probably benign	Het
Npc1	A	G	18: 12,337,822 (GRCm39)		probably null	Het
Or14j2	A	T	17: 37,886,114 (GRCm39)	S67T	probably damaging	Het
Pcid2	A	G	8: 13,128,243 (GRCm39)	V386A	probably benign	Het
Phactr2	T	A	10: 13,121,168 (GRCm39)	T444S	probably benign	Het
Plekha7	T	C	7: 115,747,559 (GRCm39)	N710D	probably benign	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Pramel15	T	C	4: 144,103,754 (GRCm39)	D124G	probably benign	Het
Ptprz1	A	T	6: 22,961,622 (GRCm39)	Y111F	probably benign	Het
Rbbp8	A	G	18: 11,865,277 (GRCm39)	E722G	possibly damaging	Het
Rimbp3	A	G	16: 17,028,190 (GRCm39)	D538G	probably benign	Het
Rims1	A	G	1: 22,511,901 (GRCm39)	S551P	probably damaging	Het
Rsrc1	A	G	3: 67,088,164 (GRCm39)	D166G	probably damaging	Het
Selenon	T	C	4: 134,270,154 (GRCm39)	N350S	probably benign	Het
Sh3gl2	T	A	4: 85,295,802 (GRCm39)	L168H	probably damaging	Het
Smc3	T	C	19: 53,617,682 (GRCm39)	Y560H	probably benign	Het
Syce1	C	T	7: 140,359,281 (GRCm39)	D147N	possibly damaging	Het
Syt10	A	C	15: 89,675,008 (GRCm39)	V446G	probably damaging	Het
Taar1	T	C	10: 23,796,722 (GRCm39)	L140P	probably benign	Het
Tfpi2	C	A	6: 3,968,032 (GRCm39)	C36F	probably damaging	Het
Thoc5	G	A	11: 4,876,237 (GRCm39)		probably null	Het
Tnrc6c	T	A	11: 117,612,800 (GRCm39)	N319K	probably benign	Het
Trhr2	C	T	8: 123,085,418 (GRCm39)	D189N	probably damaging	Het
Trim42	A	T	9: 97,245,474 (GRCm39)	F442Y	probably damaging	Het
Ubap2	G	A	4: 41,196,033 (GRCm39)	T949I	possibly damaging	Het
Ugt1a8	T	C	1: 88,016,024 (GRCm39)	F146L	probably benign	Het
Vmn2r80	C	A	10: 79,030,153 (GRCm39)	Q660K	probably damaging	Het
Vstm2b	C	T	7: 40,578,800 (GRCm39)	T258I	possibly damaging	Het
Washc2	T	C	6: 116,197,544 (GRCm39)	L259P	possibly damaging	Het
Zscan18	A	T	7: 12,508,671 (GRCm39)		probably benign	Het
Zzef1	T	G	11: 72,757,525 (GRCm39)	Y1193*	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
R6467:Kcmf1	UTSW	6	72,820,082 (GRCm39)	missense	probably damaging	0.99
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'- GAAGGTCTTCTTCCAGTCTGAAATC -3'
(R):5'- CTTTCCTTAACCTTGAGTTACGATG -3'

Sequencing Primer
(F):5'- GTACATGGGCTACTATGATGTCCAC -3'
(R):5'- CCTTAACCTTGAGTTACGATGAATCG -3'

Posted On

2019-05-13