Mutagenetix > Incidental Mutation

Incidental Mutation 'R0948:Fer1l6'

81731

Institutional Source

Beutler Lab

Gene Symbol

Fer1l6

Ensembl Gene

ENSMUSG00000037106

Gene Name

fer-1 like family member 6

Synonyms

EG631797

MMRRC Submission

039087-MU

Accession Numbers

Essential gene?

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

Stock #

R0948 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58381897-58536936 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58435924 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 439 (D439G)

Ref Sequence

ENSEMBL: ENSMUSP00000125718 (fasta)

Gene Model

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

AlphaFold

E0CZ42

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122536

Predicted Effect

probably benign
Transcript: ENSMUST00000161028
AA Change: D439G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: D439G

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: 99.3%
3x: 98.6%
10x: 96.4%
20x: 92.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009A15Rik	C	T	19: 8,867,390 (GRCm39)	T63M	probably damaging	Het
Abcb1a	T	A	5: 8,790,621 (GRCm39)		probably null	Het
Ahrr	T	C	13: 74,361,888 (GRCm39)	D537G	probably damaging	Het
Anxa4	T	A	6: 86,718,913 (GRCm39)	I269F	probably damaging	Het
Aoc1l1	A	G	6: 48,953,278 (GRCm39)	Y401C	probably damaging	Het
Atm	A	T	9: 53,407,258 (GRCm39)	M1160K	probably benign	Het
Ccdc175	A	G	12: 72,177,897 (GRCm39)	Y434H	probably damaging	Het
Col19a1	C	T	1: 24,335,882 (GRCm39)	A855T	probably damaging	Het
Cyp2a4	A	G	7: 26,010,213 (GRCm39)	D246G	probably damaging	Het
Dmbt1	T	C	7: 130,694,847 (GRCm39)	L840P	possibly damaging	Het
Dock6	A	T	9: 21,712,829 (GRCm39)	D2009E	probably damaging	Het
E2f3	C	T	13: 30,169,516 (GRCm39)	A46T	probably damaging	Het
Ect2l	A	T	10: 18,016,334 (GRCm39)	C635S	probably damaging	Het
Hao1	A	C	2: 134,372,693 (GRCm39)	M105R	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Igsf10	A	G	3: 59,238,525 (GRCm39)	I552T	probably damaging	Het
Il31ra	A	G	13: 112,666,912 (GRCm39)	S470P	possibly damaging	Het
Mfsd1	A	G	3: 67,504,067 (GRCm39)	N353S	possibly damaging	Het
Mga	T	A	2: 119,772,140 (GRCm39)	F1667I	possibly damaging	Het
Niban2	A	G	2: 32,812,872 (GRCm39)	Y480C	probably damaging	Het
Nwd2	T	C	5: 63,964,655 (GRCm39)	V1413A	probably damaging	Het
Or8b1	T	G	9: 38,400,244 (GRCm39)	S306R	probably benign	Het
Or8b50	G	A	9: 38,517,787 (GRCm39)	V9I	possibly damaging	Het
Osbpl10	T	A	9: 114,996,187 (GRCm39)	V119E	probably damaging	Het
Plec	C	A	15: 76,089,887 (GRCm39)	R151L	probably benign	Het
Ptpn12	T	C	5: 21,203,041 (GRCm39)	H579R	probably benign	Het
Rnase4	G	T	14: 51,342,362 (GRCm39)	G29C	probably damaging	Het
Sim1	C	A	10: 50,857,423 (GRCm39)	S391*	probably null	Het
Sobp	A	T	10: 42,898,205 (GRCm39)	I460N	probably damaging	Het
Spns3	A	T	11: 72,436,766 (GRCm39)	D75E	probably damaging	Het
Strn4	T	A	7: 16,571,638 (GRCm39)	C26*	probably null	Het
Tacstd2	T	A	6: 67,512,102 (GRCm39)	I197L	probably damaging	Het
Trpc6	A	G	9: 8,610,416 (GRCm39)	T295A	possibly damaging	Het
Txnl1	G	T	18: 63,825,191 (GRCm39)	S18R	possibly damaging	Het
U2surp	A	G	9: 95,343,550 (GRCm39)		probably benign	Het
Ube2frt	A	T	12: 36,140,934 (GRCm39)		probably benign	Het
Vwce	A	G	19: 10,630,441 (GRCm39)	Y500C	probably damaging	Het
Wdr49	A	C	3: 75,358,158 (GRCm39)	S196A	probably benign	Het
Wfs1	T	C	5: 37,124,905 (GRCm39)	Y662C	probably damaging	Het
Wnt8b	A	C	19: 44,498,968 (GRCm39)	D133A	possibly damaging	Het
Zfp329	T	A	7: 12,545,395 (GRCm39)	N43I	probably benign	Het
Zfp532	C	A	18: 65,756,889 (GRCm39)	A274E	probably damaging	Het
Zfp74	A	G	7: 29,635,362 (GRCm39)		probably null	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
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
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'- TTTTGGACCTGCCTGGATTAACCTG -3'
(R):5'- GTGACAAGTACTGTCTCCCTTTGCC -3'

Sequencing Primer
(F):5'- CAGTCTCATGGATGACTACCAGG -3'
(R):5'- GCCCTGGGTTCTGCTAC -3'

Posted On

2013-11-08