Mutagenetix > Incidental Mutation

Incidental Mutation 'R2000:Fer1l6'

225860

Institutional Source

Beutler Lab

Gene Symbol

Fer1l6

Ensembl Gene

ENSMUSG00000037106

Gene Name

fer-1-like 6 (C. elegans)

Synonyms

EG631797

MMRRC Submission

040010-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R2000 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58510048-58665092 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 58602311 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125718 (fasta)

Gene Model

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

AlphaFold

E0CZ42

Predicted Effect

probably benign
Transcript: ENSMUST00000161028

SMART Domains

Protein: ENSMUSP00000125718
Gene: ENSMUSG00000037106

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

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf2	T	C	2: 73,863,240		probably null	Het
Atrn	T	C	2: 130,935,588	Y186H	probably damaging	Het
Birc6	T	C	17: 74,604,619	V1528A	possibly damaging	Het
Brpf3	A	C	17: 28,821,557	E984A	probably benign	Het
Btnl9	T	C	11: 49,169,121	N600S	probably benign	Het
C330027C09Rik	A	T	16: 49,014,969	Q699L	probably damaging	Het
Camk1d	A	T	2: 5,362,025	Y126*	probably null	Het
Casp8ap2	T	A	4: 32,634,874	L136H	probably damaging	Het
Cd46	A	G	1: 195,077,704	I280T	probably benign	Het
Crebbp	A	T	16: 4,084,252	H2374Q	probably damaging	Het
Dock3	A	G	9: 106,992,961		probably benign	Het
Dph7	T	A	2: 24,971,641	D355E	probably benign	Het
Dync1li1	C	A	9: 114,713,563	F264L	probably benign	Het
Flt3	T	C	5: 147,341,238	D842G	probably damaging	Het
Fosl1	A	G	19: 5,450,355		probably benign	Het
Gabrr2	T	A	4: 33,084,400	I162N	probably damaging	Het
Gata6	T	C	18: 11,054,113	F14S	probably benign	Het
Gm10767	A	T	13: 66,908,150	N69I	possibly damaging	Het
Gm15446	T	C	5: 109,942,811	S310P	possibly damaging	Het
Gm4759	G	A	7: 106,423,231	S188L	probably benign	Het
Gmppa	A	C	1: 75,441,528	D190A	probably damaging	Het
Gpr108	C	T	17: 57,236,712	G455S	probably benign	Het
Gstm1	A	G	3: 108,014,811	F170S	probably damaging	Het
Gzf1	T	C	2: 148,684,611	I334T	probably benign	Het
Hadh	A	T	3: 131,245,239	I156K	probably benign	Het
Htr5a	G	A	5: 27,850,889	V293M	possibly damaging	Het
Ice1	C	T	13: 70,602,427	V47M	possibly damaging	Het
Ifnl3	G	T	7: 28,522,929	A32S	possibly damaging	Het
Itsn2	T	A	12: 4,666,176	Y978*	probably null	Het
Kif1a	G	T	1: 93,054,329	T792N	probably damaging	Het
Lgals9	T	C	11: 78,973,170	N50D	probably benign	Het
Lrp2	A	G	2: 69,467,090	Y3176H	probably damaging	Het
Lvrn	A	T	18: 46,905,307	N976I	probably benign	Het
Magea10	A	T	X: 72,382,773	I205K	probably benign	Het
Myo1c	A	T	11: 75,670,579	M820L	probably damaging	Het
Neb	A	T	2: 52,212,970	C4222*	probably null	Het
Nkain2	T	A	10: 32,890,285		probably benign	Het
Olfr1155	G	A	2: 87,943,146	L161F	probably benign	Het
Olfr401	A	G	11: 74,121,580	Y97C	probably benign	Het
Olfr981	A	G	9: 40,022,689	I99V	probably benign	Het
Parp4	C	T	14: 56,613,724	T728M	probably damaging	Het
Pnmal1	T	A	7: 16,961,039	V273D	probably benign	Het
Ppp1r9b	A	G	11: 94,996,620	E486G	probably damaging	Het
Pth2	C	A	7: 45,181,722	R98S	possibly damaging	Het
Rif1	T	A	2: 52,081,298	F263I	probably damaging	Het
Rnf213	A	T	11: 119,436,022	I1613F	probably damaging	Het
Rsbn1l	G	A	5: 20,902,370	H549Y	probably damaging	Het
Rtl1	C	A	12: 109,593,887	W506L	probably damaging	Het
Slc4a4	C	T	5: 89,028,347	P59L	probably damaging	Het
Smarcad1	A	G	6: 65,073,216	E273G	probably damaging	Het
Tectb	C	G	19: 55,180,999		probably benign	Het
Ttf1	T	A	2: 29,065,185	L187Q	possibly damaging	Het
Ttn	A	T	2: 76,969,703	I387N	probably damaging	Het
Ufsp1	T	C	5: 137,294,904		probably null	Het
Uox	A	C	3: 146,610,399	K30Q	possibly damaging	Het
Ush1c	A	G	7: 46,221,433	S327P	probably damaging	Het
Wwc1	A	T	11: 35,876,547	L419Q	probably damaging	Het
Xrn1	C	T	9: 96,045,563	Q1463*	probably null	Het
Yeats2	G	A	16: 20,186,391	A393T	probably benign	Het
Zfp101	C	T	17: 33,381,517	A422T	possibly damaging	Het

Other mutations in Fer1l6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0009:Fer1l6	UTSW	15	58662787	missense	probably damaging	1.00
R0141:Fer1l6	UTSW	15	58558402	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	splice site	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
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	splice site	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	probably damaging	1.00
R8261:Fer1l6	UTSW	15	58560496	missense	possibly damaging	0.84
R8847:Fer1l6	UTSW	15	58542163	missense	possibly damaging	0.72
R9022:Fer1l6	UTSW	15	58583480	missense	probably damaging	0.99
R9030:Fer1l6	UTSW	15	58630745	missense	probably damaging	1.00
R9160:Fer1l6	UTSW	15	58643866	missense	possibly damaging	0.94
R9180:Fer1l6	UTSW	15	58622381	missense	probably benign	0.19
R9289:Fer1l6	UTSW	15	58618917	missense	probably damaging	1.00
R9559:Fer1l6	UTSW	15	58557910	missense	possibly damaging	0.88
R9562:Fer1l6	UTSW	15	58618521	missense	possibly damaging	0.70
R9682:Fer1l6	UTSW	15	58550264	missense	probably benign	0.03
R9775:Fer1l6	UTSW	15	58625249	missense	probably benign
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'- CAAAGTTGCCCTGATGCTGG -3'
(R):5'- ACAGTTCTGGAAATAACTTGCG -3'

Sequencing Primer
(F):5'- CCGGAACTAAGTGGATGCCAATC -3'
(R):5'- CAGTTCTGGAAATAACTTGCGTTATC -3'

Posted On

2014-08-25