Mutagenetix > Incidental Mutation

Incidental Mutation 'R7181:Fer1l6'

559008

Institutional Source

Beutler Lab

Gene Symbol

Fer1l6

Ensembl Gene

ENSMUSG00000037106

Gene Name

fer-1 like family member 6

Synonyms

EG631797

MMRRC Submission

045270-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R7181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58381897-58536936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 58447146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 626 (A626T)

Ref Sequence

ENSEMBL: ENSMUSP00000125718 (fasta)

Gene Model

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

AlphaFold

E0CZ42

Predicted Effect

probably benign
Transcript: ENSMUST00000161028
AA Change: A626T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: A626T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,188,037 (GRCm39)	N182D	probably benign	Het
Adgrl1	A	G	8: 84,652,878 (GRCm39)		probably null	Het
Adm	T	C	7: 110,228,236 (GRCm39)	I139T	probably damaging	Het
Ahnak	A	T	19: 8,990,852 (GRCm39)	K4045N	probably damaging	Het
Axin1	T	A	17: 26,392,752 (GRCm39)	S344R	probably damaging	Het
Cacna1g	T	C	11: 94,306,691 (GRCm39)	S1896G	probably benign	Het
Cd209c	A	G	8: 3,995,712 (GRCm39)	V30A	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdh8	A	T	8: 99,825,557 (GRCm39)	M520K	probably benign	Het
Cyp2b23	G	A	7: 26,373,828 (GRCm39)	T306I	probably damaging	Het
Dnajc10	T	G	2: 80,149,587 (GRCm39)	Y96*	probably null	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Elmod1	A	C	9: 53,841,382 (GRCm39)		probably null	Het
Eva1b	A	G	4: 126,043,446 (GRCm39)	H162R	possibly damaging	Het
Fam222b	A	T	11: 78,045,804 (GRCm39)	N455I	probably damaging	Het
Fgd6	A	G	10: 93,879,373 (GRCm39)	T76A	probably benign	Het
Fndc7	A	G	3: 108,788,640 (GRCm39)		probably null	Het
Gabrg2	T	A	11: 41,811,261 (GRCm39)	I295F	probably damaging	Het
Gm10406	A	T	14: 7,027,359 (GRCm38)		probably null	Het
Gm47189	T	C	14: 41,492,059 (GRCm39)	M73V	probably benign	Het
Gm9758	A	T	5: 14,963,667 (GRCm39)	S54T	probably damaging	Het
Gm9857	A	G	3: 108,847,554 (GRCm39)	S70P	unknown	Het
Gsap	A	T	5: 21,458,427 (GRCm39)	E470D	probably damaging	Het
Hesx1	T	A	14: 26,722,678 (GRCm39)	M1K	probably null	Het
Hirip3	A	G	7: 126,463,235 (GRCm39)	D397G	probably damaging	Het
Kalrn	T	A	16: 33,983,447 (GRCm39)	N13I	probably benign	Het
Mettl8	A	T	2: 70,803,706 (GRCm39)	S194T	possibly damaging	Het
Mrps35	T	G	6: 146,957,491 (GRCm39)		probably null	Het
Myrfl	G	T	10: 116,697,448 (GRCm39)	N25K	probably damaging	Het
Or51b6b	C	A	7: 103,310,020 (GRCm39)	G146C	probably damaging	Het
Or7a41	A	G	10: 78,871,287 (GRCm39)	Y219C	probably damaging	Het
Or9k2b	A	T	10: 130,016,626 (GRCm39)	I41N	possibly damaging	Het
Phf14	A	T	6: 11,933,340 (GRCm39)	E67D	unknown	Het
Prdm16	C	T	4: 154,613,094 (GRCm39)	G111D	probably damaging	Het
Prex1	G	A	2: 166,412,291 (GRCm39)	A1568V	probably damaging	Het
Ptpn23	G	A	9: 110,214,325 (GRCm39)	T1692I	unknown	Het
Ptprb	C	T	10: 116,204,671 (GRCm39)	S1835L	probably damaging	Het
Rbm19	G	A	5: 120,254,532 (GRCm39)		probably benign	Het
Rgs7bp	T	A	13: 105,119,382 (GRCm39)	H152L	possibly damaging	Het
Rmdn3	A	T	2: 118,969,849 (GRCm39)	L404Q	probably damaging	Het
Rock2	T	A	12: 17,023,144 (GRCm39)	F1148I	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sec24c	C	A	14: 20,739,401 (GRCm39)	H559N	probably damaging	Het
Sephs2	T	C	7: 126,872,992 (GRCm39)	S34G	probably benign	Het
Serpina6	A	T	12: 103,613,203 (GRCm39)	S366T	probably benign	Het
Serpinb7	A	T	1: 107,378,052 (GRCm39)	E248D	probably benign	Het
Sesn1	G	T	10: 41,779,724 (GRCm39)	R386L	possibly damaging	Het
Skida1	T	C	2: 18,051,602 (GRCm39)	S430G	unknown	Het
Slc28a2	A	T	2: 122,282,462 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,563,299 (GRCm39)	F203S	possibly damaging	Het
Svip	A	G	7: 51,653,177 (GRCm39)	S46P	possibly damaging	Het
Tbx21	T	A	11: 96,989,923 (GRCm39)	D423V	probably benign	Het
Tcirg1	G	A	19: 3,953,576 (GRCm39)	A117V	probably null	Het
Tmem63b	T	A	17: 45,984,094 (GRCm39)	K258N	probably benign	Het
Tmem94	A	G	11: 115,685,600 (GRCm39)	N951S	probably damaging	Het
Uba2	G	T	7: 33,840,854 (GRCm39)	D591E	probably benign	Het
Unc13b	C	T	4: 43,258,893 (GRCm39)	R1356W	probably damaging	Het
Wasf3	A	G	5: 146,403,615 (GRCm39)	T242A	probably benign	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp770	T	C	2: 114,027,872 (GRCm39)	K66E	probably damaging	Het
Zfyve26	A	T	12: 79,315,182 (GRCm39)	D1431E	probably benign	Het
Zhx2	G	A	15: 57,686,746 (GRCm39)	R705H	probably benign	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
R4273:Fer1l6	UTSW	15	58,499,371 (GRCm39)	missense	probably benign	0.41
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
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'- CAAGGTAAAGGGGCACTTCC -3'
(R):5'- CCATGTGTATCTGAGCAGTGG -3'

Sequencing Primer
(F):5'- TAAAGGGGCACTTCCGGTCTC -3'
(R):5'- ATCTGAGCAGTGGGTGTGTCC -3'

Posted On

2019-06-26