Mutagenetix > Incidental Mutations

Incidental Mutation 'R0141:Fer1l6'

22341

Institutional Source

Beutler Lab

Gene Symbol

Fer1l6

Ensembl Gene

ENSMUSG00000037106

Gene Name

fer-1-like 6 (C. elegans)

Synonyms

EG631797

MMRRC Submission

038426-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R0141 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

58510048-58665092 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58558402 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 226 (E226G)

Ref Sequence

ENSEMBL: ENSMUSP00000125718 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000161028
AA Change: E226G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106
AA Change: E226G

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

Meta Mutation Damage Score

0.4277

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.5%
20x: 89.9%

Validation Efficiency

88% (50/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,683,782	N772K	probably benign	Het
Acot12	A	C	13: 91,771,828	D294A	probably benign	Het
Adamts9	T	C	6: 92,943,085	D24G	probably benign	Het
Ahnak	G	A	19: 9,006,680	G1776D	probably damaging	Het
Arfgef3	C	A	10: 18,597,407	C1636F	probably damaging	Het
AW551984	A	G	9: 39,590,644	L722P	probably damaging	Het
Ccndbp1	T	A	2: 121,012,422	M188K	probably damaging	Het
Col27a1	A	T	4: 63,265,633		probably null	Het
Cpt1c	A	G	7: 44,966,671	Y306H	probably damaging	Het
Cyp3a57	A	G	5: 145,362,102	I71V	probably benign	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Dmrt2	A	T	19: 25,678,291	Q418L	possibly damaging	Het
Ebf1	T	C	11: 44,908,000	L284S	probably damaging	Het
Fam131a	G	A	16: 20,698,988	A15T	probably benign	Het
Fbxo17	A	G	7: 28,733,491	T146A	possibly damaging	Het
Galnt18	A	T	7: 111,599,031	I174N	probably damaging	Het
Gm13088	T	C	4: 143,654,568	Y295C	probably benign	Het
Gm44501	T	C	17: 40,578,853	I86T	probably benign	Het
Gm884	A	C	11: 103,613,686	I2485M	probably damaging	Het
Gtsf1l	T	C	2: 163,087,326	Q79R	probably benign	Het
Hapln4	T	C	8: 70,088,280	L321P	probably damaging	Het
Herc2	A	G	7: 56,121,561	T1024A	probably benign	Het
Hps5	A	G	7: 46,789,181	S43P	probably damaging	Het
Igsf10	A	G	3: 59,330,832	Y643H	probably damaging	Het
Lama4	G	A	10: 39,092,278	R1472H	probably benign	Het
Lhx9	A	G	1: 138,840,006	Y73H	possibly damaging	Het
Loxl1	T	A	9: 58,312,132	Q252L	probably damaging	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nr3c2	T	A	8: 76,908,408	V46D	probably damaging	Het
Olfr1283	T	A	2: 111,369,490	I286N	probably damaging	Het
Olfr152	C	G	2: 87,782,705	P55R	possibly damaging	Het
Olfr487	A	C	7: 108,212,003	N175K	possibly damaging	Het
Olfr495	A	T	7: 108,395,368	N83Y	probably benign	Het
Olfr749	T	C	14: 50,736,383	S260G	possibly damaging	Het
Osbp	T	C	19: 11,973,859	V256A	possibly damaging	Het
Pclo	A	T	5: 14,791,922	D4737V	unknown	Het
Pkdrej	A	G	15: 85,815,630	I2035T	probably damaging	Het
Plek2	A	G	12: 78,894,504	S185P	probably damaging	Het
Pnpla6	G	T	8: 3,532,117		probably null	Het
Pou3f2	T	C	4: 22,487,210	T308A	possibly damaging	Het
Pxmp4	A	G	2: 154,592,295	V82A	probably damaging	Het
Rnf6	A	T	5: 146,211,835	N135K	possibly damaging	Het
Rtl1	A	G	12: 109,592,948	V819A	probably damaging	Het
Scn1a	C	A	2: 66,289,062	V1355L	probably damaging	Het
Scn2a	T	A	2: 65,711,816	N754K	probably benign	Het
Serpina3b	A	T	12: 104,130,771	N104Y	probably damaging	Het
Sh3rf2	T	C	18: 42,156,057	S648P	probably benign	Het
Slc17a6	G	A	7: 51,669,067	V486I	probably benign	Het
Syne2	T	G	12: 75,941,298	D1743E	probably damaging	Het
Tex14	T	G	11: 87,493,031		probably null	Het
Tfb1m	T	C	17: 3,554,957	D87G	probably damaging	Het
Tll2	C	T	19: 41,097,912	G609S	probably damaging	Het
Tsc22d2	A	T	3: 58,417,156		probably benign	Het
Tsen2	A	G	6: 115,568,829	D360G	probably damaging	Het
Ugt2b37	G	A	5: 87,240,983	P457L	probably damaging	Het
Vmn1r68	T	C	7: 10,527,325	N282S	possibly damaging	Het
Vmn2r58	G	A	7: 41,861,885	S498F	probably benign	Het
Zfp959	T	C	17: 55,898,139	I392T	probably benign	Het

Other mutations in Fer1l6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0009:Fer1l6	UTSW	15	58662787	missense	probably damaging	1.00
R0178:Fer1l6	UTSW	15	58637914	splice site	probably null
R0304:Fer1l6	UTSW	15	58590562	missense	probably benign	0.08
R0379:Fer1l6	UTSW	15	58548338	missense	probably benign	0.05
R0457:Fer1l6	UTSW	15	58638094	critical splice donor site	probably null
R0546:Fer1l6	UTSW	15	58558408	splice site	probably null
R0602:Fer1l6	UTSW	15	58577945	missense	probably damaging	0.98
R0619:Fer1l6	UTSW	15	58662935	unclassified	probably null
R0669:Fer1l6	UTSW	15	58553724	splice site	probably null
R0854:Fer1l6	UTSW	15	58559188	missense	probably benign	0.00
R0948:Fer1l6	UTSW	15	58564075	missense	probably benign	0.00
R1180:Fer1l6	UTSW	15	58602311	splice site	probably benign
R1483:Fer1l6	UTSW	15	58637970	missense	possibly damaging	0.84
R1627:Fer1l6	UTSW	15	58641879	missense	probably benign	0.41
R1635:Fer1l6	UTSW	15	58647081	missense	probably damaging	1.00
R1834:Fer1l6	UTSW	15	58557869	missense	possibly damaging	0.58
R1921:Fer1l6	UTSW	15	58625231	missense	probably damaging	1.00
R2000:Fer1l6	UTSW	15	58602311	splice site	probably benign
R2041:Fer1l6	UTSW	15	58558306	missense	probably damaging	1.00
R2144:Fer1l6	UTSW	15	58627534	missense	probably benign
R2145:Fer1l6	UTSW	15	58627534	missense	probably benign
R2981:Fer1l6	UTSW	15	58564077	missense	probably damaging	0.99
R4164:Fer1l6	UTSW	15	58559238	missense	possibly damaging	0.83
R4192:Fer1l6	UTSW	15	58647149	missense	probably damaging	1.00
R4273:Fer1l6	UTSW	15	58627522	missense	probably benign	0.41
R4573:Fer1l6	UTSW	15	58626280	critical splice donor site	probably null
R4581:Fer1l6	UTSW	15	58640226	missense	probably damaging	1.00
R4624:Fer1l6	UTSW	15	58553705	missense	probably damaging	1.00
R4755:Fer1l6	UTSW	15	58640211	missense	probably benign	0.09
R4774:Fer1l6	UTSW	15	58577949	missense	probably damaging	0.99
R4894:Fer1l6	UTSW	15	58618902	missense	probably damaging	1.00
R4896:Fer1l6	UTSW	15	58638020	missense	probably damaging	1.00
R4921:Fer1l6	UTSW	15	58600311	critical splice acceptor site	probably null
R4962:Fer1l6	UTSW	15	58571401	missense	probably benign	0.03
R5029:Fer1l6	UTSW	15	58643920	missense	probably benign	0.00
R5134:Fer1l6	UTSW	15	58640154	missense	probably damaging	1.00
R5175:Fer1l6	UTSW	15	58550277	missense	probably damaging	1.00
R5227:Fer1l6	UTSW	15	58581903	nonsense	probably null
R5561:Fer1l6	UTSW	15	58660825	missense	probably damaging	0.97
R5621:Fer1l6	UTSW	15	58558326	missense	probably damaging	1.00
R5670:Fer1l6	UTSW	15	58622482	missense	probably benign	0.00
R5745:Fer1l6	UTSW	15	58571389	missense	probably benign	0.01
R5807:Fer1l6	UTSW	15	58590550	nonsense	probably null
R5823:Fer1l6	UTSW	15	58590503	nonsense	probably null
R5892:Fer1l6	UTSW	15	58564068	missense	probably benign
R6006:Fer1l6	UTSW	15	58647044	missense	probably damaging	1.00
R6137:Fer1l6	UTSW	15	58559206	missense	probably damaging	0.97
R6195:Fer1l6	UTSW	15	58637957	missense	probably damaging	1.00
R6234:Fer1l6	UTSW	15	58560639	missense	probably damaging	1.00
R6237:Fer1l6	UTSW	15	58625177	nonsense	probably null
R6237:Fer1l6	UTSW	15	58638006	missense	probably damaging	1.00
R6271:Fer1l6	UTSW	15	58641918	missense	probably benign	0.01
R6336:Fer1l6	UTSW	15	58559232	nonsense	probably null
R6784:Fer1l6	UTSW	15	58571426	missense	possibly damaging	0.63
R6852:Fer1l6	UTSW	15	58594878	missense	probably damaging	1.00
R7030:Fer1l6	UTSW	15	58629378	missense	probably damaging	1.00
R7088:Fer1l6	UTSW	15	58564050	missense	possibly damaging	0.69
R7181:Fer1l6	UTSW	15	58575297	missense	probably benign	0.00
R7226:Fer1l6	UTSW	15	58590535	missense	probably benign	0.00
R7266:Fer1l6	UTSW	15	58627597	missense	probably benign
R7463:Fer1l6	UTSW	15	58573601	nonsense	probably null
R7464:Fer1l6	UTSW	15	58573247	intron	probably null
R7469:Fer1l6	UTSW	15	58590570	splice site	probably null
R7483:Fer1l6	UTSW	15	58641945	missense	possibly damaging	0.83
R7491:Fer1l6	UTSW	15	58600432	missense	probably damaging	1.00
R7534:Fer1l6	UTSW	15	58638026	missense	probably damaging	1.00
R7562:Fer1l6	UTSW	15	58560482	missense	probably benign	0.00
R7580:Fer1l6	UTSW	15	58558396	missense	probably benign	0.41
R7599:Fer1l6	UTSW	15	58627589	missense	probably benign
R7607:Fer1l6	UTSW	15	58662732	nonsense	probably null
R7677:Fer1l6	UTSW	15	58602290	missense	probably benign	0.00
R8202:Fer1l6	UTSW	15	58630637	missense	not run
X0021:Fer1l6	UTSW	15	58569202	nonsense	probably null
X0027:Fer1l6	UTSW	15	58629340	missense	probably damaging	1.00
X0063:Fer1l6	UTSW	15	58618574	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAAGCCTCCCAAATGCCTATGAC -3'
(R):5'- AGACATCCGACAGAGCTGAGTCTC -3'

Sequencing Primer
(F):5'- ATGCCTATGACCCATTGGAG -3'
(R):5'- CGACAGAGCTGAGTCTCTGATTG -3'

Posted On

2013-04-16