Mutagenetix > Incidental Mutation

Incidental Mutation 'R4273:Fer1l6'

322294

Institutional Source

Beutler Lab

Gene Symbol

Fer1l6

Ensembl Gene

ENSMUSG00000037106

Gene Name

fer-1 like family member 6

Synonyms

EG631797

MMRRC Submission

041645-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R4273 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58381897-58536936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58499371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1247 (V1247A)

Ref Sequence

ENSEMBL: ENSMUSP00000125718 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000161028]

AlphaFold

E0CZ42

Predicted Effect

probably benign
Transcript: ENSMUST00000161028
AA Change: V1247A

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: V1247A

Domain	Start	End	E-Value	Type
low complexity region	4	20	N/A	INTRINSIC
C2	83	179	4.09e-12	SMART
FerI	165	235	2.06e-36	SMART
C2	243	354	5.19e-14	SMART
low complexity region	412	449	N/A	INTRINSIC
FerB	714	787	2.53e-45	SMART
C2	829	936	8.84e-8	SMART
C2	1000	1099	3.05e0	SMART
low complexity region	1189	1203	N/A	INTRINSIC
low complexity region	1256	1270	N/A	INTRINSIC
C2	1361	1460	5.78e-12	SMART
low complexity region	1518	1529	N/A	INTRINSIC
C2	1601	1731	1.01e-2	SMART
Pfam:Ferlin_C	1765	1857	2.3e-40	PFAM

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acer2	T	A	4: 86,792,835 (GRCm39)		probably null	Het
Adgrf2	T	A	17: 43,021,013 (GRCm39)	T604S	probably damaging	Het
Akap8l	T	A	17: 32,540,905 (GRCm39)	K533*	probably null	Het
Appbp2	T	C	11: 85,125,502 (GRCm39)	Y45C	probably damaging	Het
Arap2	T	C	5: 62,828,322 (GRCm39)	I950V	possibly damaging	Het
Arhgap31	T	C	16: 38,422,697 (GRCm39)	E1123G	possibly damaging	Het
Atp2c1	G	T	9: 105,312,339 (GRCm39)	N493K	probably benign	Het
Bcr	T	C	10: 74,960,943 (GRCm39)	I458T	probably damaging	Het
Brd4	G	A	17: 32,433,756 (GRCm39)	T468I	probably benign	Het
Cdh23	T	A	10: 60,146,940 (GRCm39)	D2774V	possibly damaging	Het
Cfdp1	T	C	8: 112,495,417 (GRCm39)	Y267C	probably damaging	Het
Chd6	C	A	2: 160,803,211 (GRCm39)	A2156S	probably benign	Het
Dazap2	C	A	15: 100,515,971 (GRCm39)	P100T	probably damaging	Het
Disp1	T	A	1: 182,869,208 (GRCm39)	I1071F	possibly damaging	Het
Dlgap1	T	A	17: 71,073,038 (GRCm39)	S686T	probably benign	Het
Dst	C	T	1: 34,231,421 (GRCm39)	R3183C	possibly damaging	Het
Enpp4	T	C	17: 44,412,698 (GRCm39)	N279D	probably benign	Het
Exoc3l	T	C	8: 106,016,593 (GRCm39)	*740W	probably null	Het
Exoc5	A	T	14: 49,252,937 (GRCm39)	C625*	probably null	Het
Fam98b	A	T	2: 117,090,712 (GRCm39)	N137Y	possibly damaging	Het
Fat4	T	A	3: 38,945,776 (GRCm39)	D1556E	probably damaging	Het
Fcer2a	C	A	8: 3,732,848 (GRCm39)	V319L	possibly damaging	Het
Fmo4	A	G	1: 162,632,748 (GRCm39)	V201A	probably damaging	Het
Fras1	G	A	5: 96,762,763 (GRCm39)	G755D	probably benign	Het
Grid2	T	C	6: 63,886,029 (GRCm39)	Y142H	probably damaging	Het
Hspg2	C	T	4: 137,246,251 (GRCm39)	R1010C	probably damaging	Het
Ibtk	T	C	9: 85,608,784 (GRCm39)	Q376R	probably damaging	Het
Impdh2	T	C	9: 108,442,155 (GRCm39)	M414T	probably damaging	Het
Itm2c	A	G	1: 85,834,750 (GRCm39)	T160A	probably damaging	Het
Kcna2	T	A	3: 107,012,509 (GRCm39)	D363E	probably benign	Het
Lama2	C	T	10: 27,223,050 (GRCm39)	C412Y	probably damaging	Het
Lims2	C	G	18: 32,089,390 (GRCm39)	T151S	probably benign	Het
Mier1	T	C	4: 103,019,628 (GRCm39)	S423P	possibly damaging	Het
Mrgpra3	A	T	7: 47,239,180 (GRCm39)	W249R	probably benign	Het
Mtor	A	G	4: 148,634,609 (GRCm39)	H2410R	probably benign	Het
Mvp	C	T	7: 126,588,875 (GRCm39)	A631T	probably benign	Het
Nepro	T	C	16: 44,556,192 (GRCm39)	V450A	possibly damaging	Het
Ngrn	T	C	7: 79,914,269 (GRCm39)	V140A	probably damaging	Het
Nobox	T	C	6: 43,282,942 (GRCm39)	E231G	probably benign	Het
Or10al7	A	T	17: 38,366,163 (GRCm39)	I98N	probably damaging	Het
P3h2	T	A	16: 25,923,971 (GRCm39)	I155F	probably benign	Het
Pcdha3	C	T	18: 37,081,144 (GRCm39)	R629C	probably damaging	Het
Pramel24	A	T	4: 143,453,416 (GRCm39)	K175*	probably null	Het
Riok3	AGAAGCGG	AG	18: 12,268,998 (GRCm39)		probably benign	Het
Rttn	T	C	18: 89,110,020 (GRCm39)	I1675T	probably benign	Het
Sall2	C	A	14: 52,551,260 (GRCm39)	R643L	probably damaging	Het
Slc35f4	G	T	14: 49,541,758 (GRCm39)	T182N	possibly damaging	Het
Slc52a3	T	A	2: 151,847,660 (GRCm39)	I256N	possibly damaging	Het
Sox9	T	C	11: 112,675,980 (GRCm39)	S390P	possibly damaging	Het
Tango2	T	C	16: 18,120,654 (GRCm39)		probably benign	Het
Tas1r1	T	C	4: 152,116,614 (GRCm39)	E340G	possibly damaging	Het
Tek	G	A	4: 94,718,207 (GRCm39)	G524R	probably damaging	Het
Tmem260	A	T	14: 48,742,761 (GRCm39)	Y532F	probably benign	Het
Tsks	C	A	7: 44,607,353 (GRCm39)	L559I	probably damaging	Het
Unc79	C	A	12: 103,088,612 (GRCm39)	L1702I	probably damaging	Het
Vmn1r14	T	A	6: 57,211,133 (GRCm39)	I237N	probably damaging	Het
Vmn2r17	G	A	5: 109,600,832 (GRCm39)	C710Y	probably benign	Het
Zfp119b	G	T	17: 56,245,926 (GRCm39)	T420K	possibly damaging	Het
Zfp202	C	T	9: 40,118,790 (GRCm39)	R68*	probably null	Het
Zfp229	T	A	17: 21,965,802 (GRCm39)	S677R	probably benign	Het
Zfp462	C	T	4: 55,008,411 (GRCm39)	H126Y	probably benign	Het
Zfp52	C	A	17: 21,780,459 (GRCm39)	Y102*	probably null	Het
Zfp616	T	A	11: 73,974,526 (GRCm39)	M265K	probably benign	Het
Zfyve9	A	T	4: 108,538,173 (GRCm39)	I1031N	probably damaging	Het
Zmynd11	T	C	13: 9,747,726 (GRCm39)	Y203C	probably damaging	Het

Other mutations in Fer1l6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0009:Fer1l6	UTSW	15	58,534,636 (GRCm39)	missense	probably damaging	1.00
R0141:Fer1l6	UTSW	15	58,430,251 (GRCm39)	missense	probably damaging	1.00
R0178:Fer1l6	UTSW	15	58,509,763 (GRCm39)	splice site	probably null
R0304:Fer1l6	UTSW	15	58,462,411 (GRCm39)	missense	probably benign	0.08
R0379:Fer1l6	UTSW	15	58,420,187 (GRCm39)	missense	probably benign	0.05
R0457:Fer1l6	UTSW	15	58,509,943 (GRCm39)	critical splice donor site	probably null
R0546:Fer1l6	UTSW	15	58,430,257 (GRCm39)	splice site	probably null
R0602:Fer1l6	UTSW	15	58,449,794 (GRCm39)	missense	probably damaging	0.98
R0619:Fer1l6	UTSW	15	58,534,784 (GRCm39)	splice site	probably null
R0669:Fer1l6	UTSW	15	58,425,573 (GRCm39)	splice site	probably null
R0854:Fer1l6	UTSW	15	58,431,037 (GRCm39)	missense	probably benign	0.00
R0948:Fer1l6	UTSW	15	58,435,924 (GRCm39)	missense	probably benign	0.00
R1180:Fer1l6	UTSW	15	58,474,160 (GRCm39)	splice site	probably benign
R1483:Fer1l6	UTSW	15	58,509,819 (GRCm39)	missense	possibly damaging	0.84
R1627:Fer1l6	UTSW	15	58,513,728 (GRCm39)	missense	probably benign	0.41
R1635:Fer1l6	UTSW	15	58,518,930 (GRCm39)	missense	probably damaging	1.00
R1834:Fer1l6	UTSW	15	58,429,718 (GRCm39)	missense	possibly damaging	0.58
R1921:Fer1l6	UTSW	15	58,497,080 (GRCm39)	missense	probably damaging	1.00
R2000:Fer1l6	UTSW	15	58,474,160 (GRCm39)	splice site	probably benign
R2041:Fer1l6	UTSW	15	58,430,155 (GRCm39)	missense	probably damaging	1.00
R2144:Fer1l6	UTSW	15	58,499,383 (GRCm39)	missense	probably benign
R2145:Fer1l6	UTSW	15	58,499,383 (GRCm39)	missense	probably benign
R2981:Fer1l6	UTSW	15	58,435,926 (GRCm39)	missense	probably damaging	0.99
R4164:Fer1l6	UTSW	15	58,431,087 (GRCm39)	missense	possibly damaging	0.83
R4192:Fer1l6	UTSW	15	58,518,998 (GRCm39)	missense	probably damaging	1.00
R4573:Fer1l6	UTSW	15	58,498,129 (GRCm39)	critical splice donor site	probably null
R4581:Fer1l6	UTSW	15	58,512,075 (GRCm39)	missense	probably damaging	1.00
R4624:Fer1l6	UTSW	15	58,425,554 (GRCm39)	missense	probably damaging	1.00
R4755:Fer1l6	UTSW	15	58,512,060 (GRCm39)	missense	probably benign	0.09
R4774:Fer1l6	UTSW	15	58,449,798 (GRCm39)	missense	probably damaging	0.99
R4894:Fer1l6	UTSW	15	58,490,751 (GRCm39)	missense	probably damaging	1.00
R4896:Fer1l6	UTSW	15	58,509,869 (GRCm39)	missense	probably damaging	1.00
R4921:Fer1l6	UTSW	15	58,472,160 (GRCm39)	critical splice acceptor site	probably null
R4962:Fer1l6	UTSW	15	58,443,250 (GRCm39)	missense	probably benign	0.03
R5029:Fer1l6	UTSW	15	58,515,769 (GRCm39)	missense	probably benign	0.00
R5134:Fer1l6	UTSW	15	58,512,003 (GRCm39)	missense	probably damaging	1.00
R5175:Fer1l6	UTSW	15	58,422,126 (GRCm39)	missense	probably damaging	1.00
R5227:Fer1l6	UTSW	15	58,453,752 (GRCm39)	nonsense	probably null
R5561:Fer1l6	UTSW	15	58,532,674 (GRCm39)	missense	probably damaging	0.97
R5621:Fer1l6	UTSW	15	58,430,175 (GRCm39)	missense	probably damaging	1.00
R5670:Fer1l6	UTSW	15	58,494,331 (GRCm39)	missense	probably benign	0.00
R5745:Fer1l6	UTSW	15	58,443,238 (GRCm39)	missense	probably benign	0.01
R5807:Fer1l6	UTSW	15	58,462,399 (GRCm39)	nonsense	probably null
R5823:Fer1l6	UTSW	15	58,462,352 (GRCm39)	nonsense	probably null
R5892:Fer1l6	UTSW	15	58,435,917 (GRCm39)	missense	probably benign
R6006:Fer1l6	UTSW	15	58,518,893 (GRCm39)	missense	probably damaging	1.00
R6137:Fer1l6	UTSW	15	58,431,055 (GRCm39)	missense	probably damaging	0.97
R6195:Fer1l6	UTSW	15	58,509,806 (GRCm39)	missense	probably damaging	1.00
R6234:Fer1l6	UTSW	15	58,432,488 (GRCm39)	missense	probably damaging	1.00
R6237:Fer1l6	UTSW	15	58,509,855 (GRCm39)	missense	probably damaging	1.00
R6237:Fer1l6	UTSW	15	58,497,026 (GRCm39)	nonsense	probably null
R6271:Fer1l6	UTSW	15	58,513,767 (GRCm39)	missense	probably benign	0.01
R6336:Fer1l6	UTSW	15	58,431,081 (GRCm39)	nonsense	probably null
R6784:Fer1l6	UTSW	15	58,443,275 (GRCm39)	missense	possibly damaging	0.63
R6852:Fer1l6	UTSW	15	58,466,727 (GRCm39)	missense	probably damaging	1.00
R7030:Fer1l6	UTSW	15	58,501,227 (GRCm39)	missense	probably damaging	1.00
R7088:Fer1l6	UTSW	15	58,435,899 (GRCm39)	missense	possibly damaging	0.69
R7181:Fer1l6	UTSW	15	58,447,146 (GRCm39)	missense	probably benign	0.00
R7226:Fer1l6	UTSW	15	58,462,384 (GRCm39)	missense	probably benign	0.00
R7266:Fer1l6	UTSW	15	58,499,446 (GRCm39)	missense	probably benign
R7463:Fer1l6	UTSW	15	58,445,450 (GRCm39)	nonsense	probably null
R7464:Fer1l6	UTSW	15	58,445,096 (GRCm39)	splice site	probably null
R7469:Fer1l6	UTSW	15	58,462,419 (GRCm39)	splice site	probably null
R7483:Fer1l6	UTSW	15	58,513,794 (GRCm39)	missense	possibly damaging	0.83
R7491:Fer1l6	UTSW	15	58,472,281 (GRCm39)	missense	probably damaging	1.00
R7534:Fer1l6	UTSW	15	58,509,875 (GRCm39)	missense	probably damaging	1.00
R7562:Fer1l6	UTSW	15	58,432,331 (GRCm39)	missense	probably benign	0.00
R7580:Fer1l6	UTSW	15	58,430,245 (GRCm39)	missense	probably benign	0.41
R7599:Fer1l6	UTSW	15	58,499,438 (GRCm39)	missense	probably benign
R7607:Fer1l6	UTSW	15	58,534,581 (GRCm39)	nonsense	probably null
R7677:Fer1l6	UTSW	15	58,474,139 (GRCm39)	missense	probably benign	0.00
R8202:Fer1l6	UTSW	15	58,502,486 (GRCm39)	missense	probably damaging	1.00
R8261:Fer1l6	UTSW	15	58,432,345 (GRCm39)	missense	possibly damaging	0.84
R8847:Fer1l6	UTSW	15	58,414,012 (GRCm39)	missense	possibly damaging	0.72
R9022:Fer1l6	UTSW	15	58,455,329 (GRCm39)	missense	probably damaging	0.99
R9030:Fer1l6	UTSW	15	58,502,594 (GRCm39)	missense	probably damaging	1.00
R9160:Fer1l6	UTSW	15	58,515,715 (GRCm39)	missense	possibly damaging	0.94
R9180:Fer1l6	UTSW	15	58,494,230 (GRCm39)	missense	probably benign	0.19
R9289:Fer1l6	UTSW	15	58,490,766 (GRCm39)	missense	probably damaging	1.00
R9559:Fer1l6	UTSW	15	58,429,759 (GRCm39)	missense	possibly damaging	0.88
R9562:Fer1l6	UTSW	15	58,490,370 (GRCm39)	missense	possibly damaging	0.70
R9682:Fer1l6	UTSW	15	58,422,113 (GRCm39)	missense	probably benign	0.03
R9775:Fer1l6	UTSW	15	58,497,098 (GRCm39)	missense	probably benign
X0021:Fer1l6	UTSW	15	58,441,051 (GRCm39)	nonsense	probably null
X0027:Fer1l6	UTSW	15	58,501,189 (GRCm39)	missense	probably damaging	1.00
X0063:Fer1l6	UTSW	15	58,490,423 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGACCTTCTCAATGCCAG -3'
(R):5'- TAGTTCAAAGGAAGGACTCACGAC -3'

Sequencing Primer
(F):5'- GCCAGGTTTAATGTATCCATGCACAG -3'
(R):5'- GGAAGGACTCACGACATTTGACC -3'

Posted On

2015-06-20