Mutagenetix > Incidental Mutation

Incidental Mutation 'R1699:Fer1l4'

192481

Institutional Source

Beutler Lab

Gene Symbol

Fer1l4

Ensembl Gene

ENSMUSG00000013338

Gene Name

fer-1-like 4 (C. elegans)

Synonyms

9130402C12Rik

MMRRC Submission

039732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1699 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

156019139-156052947 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 156029685 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 1392 (F1392L)

Ref Sequence

ENSEMBL: ENSMUSP00000105240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109611]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000109611
AA Change: F1392L

PolyPhen 2 Score 0.139 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338
AA Change: F1392L

Domain	Start	End	E-Value	Type
PDB:3L9B\|A	1	122	1e-12	PDB
Blast:C2	2	96	2e-51	BLAST
low complexity region	159	172	N/A	INTRINSIC
low complexity region	178	197	N/A	INTRINSIC
C2	228	329	2.87e-7	SMART
FerI	312	383	7.93e-29	SMART
C2	391	501	3.64e-9	SMART
low complexity region	574	581	N/A	INTRINSIC
low complexity region	611	622	N/A	INTRINSIC
low complexity region	829	837	N/A	INTRINSIC
low complexity region	844	855	N/A	INTRINSIC
FerB	861	932	7.27e-37	SMART
C2	968	1076	3.73e-6	SMART
low complexity region	1249	1257	N/A	INTRINSIC
low complexity region	1280	1310	N/A	INTRINSIC
low complexity region	1327	1340	N/A	INTRINSIC
low complexity region	1397	1407	N/A	INTRINSIC
C2	1449	1548	5.65e-15	SMART
C2	1692	1822	4.22e-5	SMART
Pfam:Ferlin_C	1834	1987	1.6e-74	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000132912
AA Change: F78L

SMART Domains

Protein: ENSMUSP00000123091
Gene: ENSMUSG00000013338
AA Change: F78L

Domain	Start	End	E-Value	Type
low complexity region	14	27	N/A	INTRINSIC
low complexity region	84	94	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150538

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	G	5: 30,483,866		probably null	Het
Abca2	A	G	2: 25,447,351	E2406G	possibly damaging	Het
Adam6b	T	A	12: 113,490,585	F341I	probably benign	Het
Adam8	A	T	7: 139,983,311	N767K	possibly damaging	Het
AI481877	T	C	4: 59,113,926	K13R	unknown	Het
Aig1	T	C	10: 13,868,622	D46G	possibly damaging	Het
Alms1	A	G	6: 85,622,880	I2032V	possibly damaging	Het
Ankrd16	A	G	2: 11,784,393	I264V	probably benign	Het
Areg	T	G	5: 91,143,498	V100G	probably damaging	Het
Bcan	A	G	3: 87,989,236	Y718H	probably damaging	Het
Brsk2	T	A	7: 141,985,463	I188N	probably damaging	Het
Ccdc189	A	T	7: 127,586,856		probably null	Het
Cdt1	T	C	8: 122,569,983	Y203H	probably damaging	Het
Chil3	A	C	3: 106,160,366		probably null	Het
Cth	A	G	3: 157,907,436	L253P	probably damaging	Het
Cyp11b1	A	G	15: 74,840,817	F132L	possibly damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dnah11	A	G	12: 118,190,868	S226P	probably damaging	Het
Egfr	A	T	11: 16,859,019	Q71L	probably benign	Het
Eml6	T	A	11: 29,746,282	K1940*	probably null	Het
Epn2	T	A	11: 61,523,188	K391*	probably null	Het
Erich1	A	T	8: 14,090,259	S2T	possibly damaging	Het
Evi5	A	C	5: 107,818,920	L245R	probably damaging	Het
Evpl	T	C	11: 116,227,588	Y731C	probably damaging	Het
Exoc3l	G	A	8: 105,295,013	H128Y	probably benign	Het
Extl1	G	A	4: 134,364,583	Q320*	probably null	Het
Fam71a	T	A	1: 191,163,821	E208D	probably benign	Het
Fam91a1	T	A	15: 58,432,948	S416T	probably benign	Het
Fam96b	A	G	8: 104,640,086	V132A	probably damaging	Het
Fat3	A	T	9: 15,938,398	S3903T	probably damaging	Het
Fstl4	T	C	11: 53,168,178	I488T	possibly damaging	Het
Gak	A	T	5: 108,604,377	Y338*	probably null	Het
Glp2r	T	C	11: 67,757,541	T112A	probably benign	Het
Glrb	G	A	3: 80,861,774	T180I	probably damaging	Het
Gm10118	C	T	10: 63,926,892		probably benign	Het
Gpr19	A	T	6: 134,870,229	F72I	possibly damaging	Het
Grin3b	C	A	10: 79,975,882	N740K	probably damaging	Het
Gstk1	A	T	6: 42,246,601	T42S	probably benign	Het
Hoxd1	G	A	2: 74,764,282	A294T	probably benign	Het
Hspg2	T	A	4: 137,548,012		probably null	Het
Ift74	A	T	4: 94,685,703	N472I	probably benign	Het
Il1a	C	T	2: 129,302,893	D202N	probably damaging	Het
Islr	T	C	9: 58,157,495	D243G	probably damaging	Het
Kif21a	C	T	15: 90,959,743	E1098K	probably damaging	Het
Krtap16-1	T	C	11: 99,986,026	E184G	probably damaging	Het
Lrp1b	A	G	2: 41,185,962	I1889T	possibly damaging	Het
Mcpt4	A	G	14: 56,059,959	*247Q	probably null	Het
Megf10	T	C	18: 57,277,730		probably null	Het
Mettl2	T	A	11: 105,139,718	H373Q	probably benign	Het
Mocos	A	G	18: 24,683,216	K617E	probably damaging	Het
Ms4a8a	A	G	19: 11,076,397	I115T	probably damaging	Het
Ndst1	T	C	18: 60,695,508	Y658C	probably damaging	Het
Nin	G	A	12: 70,030,938	A1031V	probably benign	Het
Nin	C	A	12: 70,045,563	K657N	possibly damaging	Het
Noc4l	G	A	5: 110,649,847	R344*	probably null	Het
Notch2	T	C	3: 98,145,127	S1980P	probably damaging	Het
Npat	C	T	9: 53,562,660	S584L	probably benign	Het
Nphp4	A	G	4: 152,496,664	T102A	probably damaging	Het
Olfml2b	A	G	1: 170,645,073	N51S	possibly damaging	Het
Olfr1042	T	C	2: 86,159,936	I145V	probably benign	Het
Olfr138	A	G	17: 38,275,041	K90R	probably benign	Het
Olfr1388	T	A	11: 49,444,289	I146N	possibly damaging	Het
Olfr153	A	G	2: 87,532,083	T17A	probably benign	Het
Pced1b	T	A	15: 97,384,877	W266R	probably damaging	Het
Pdcd6ip	A	G	9: 113,678,354	V378A	probably damaging	Het
Pde8b	T	A	13: 95,032,866	K683N	probably damaging	Het
Pfas	T	G	11: 68,998,046		probably null	Het
Pirb	A	T	7: 3,717,638	L287Q	probably benign	Het
Plcd4	T	G	1: 74,548,235	S51R	probably benign	Het
Plekhh2	T	A	17: 84,577,184	Y775*	probably null	Het
Polr3a	G	A	14: 24,484,164	P91L	probably damaging	Het
Ppp4r3b	C	T	11: 29,213,765	T47I	possibly damaging	Het
Pter	A	T	2: 12,994,761	D169V	probably damaging	Het
Ptpn12	A	G	5: 20,998,170	S537P	probably benign	Het
Ptpru	T	A	4: 131,779,050	D1067V	probably damaging	Het
Rcn1	A	T	2: 105,399,005	D67E	probably damaging	Het
Rfc4	T	C	16: 23,114,233	E318G	probably benign	Het
Samd13	C	A	3: 146,662,714	R41L	probably benign	Het
Slc6a2	T	C	8: 92,972,812	I156T	possibly damaging	Het
Spag16	T	C	1: 69,996,856	F348L	probably benign	Het
Spag4	T	C	2: 156,065,422	Y21H	probably damaging	Het
Stam2	G	A	2: 52,703,175	A368V	possibly damaging	Het
Stc1	A	T	14: 69,038,327	M190L	probably benign	Het
Stxbp1	A	G	2: 32,800,617	L475P	probably damaging	Het
Syn3	A	T	10: 86,080,211	Y304N	probably damaging	Het
Tbc1d15	G	T	10: 115,220,314	T251K	probably benign	Het
Tbpl2	A	T	2: 24,095,045	M29K	probably benign	Het
Tead3	T	G	17: 28,334,724	Q170H	possibly damaging	Het
Tpbpb	T	C	13: 60,902,163	N51D	probably benign	Het
Tstd3	A	G	4: 21,759,400	M124T	probably benign	Het
Ttyh1	T	A	7: 4,119,696	H14Q	possibly damaging	Het
Tubgcp4	G	A	2: 121,189,893	W449*	probably null	Het
Txndc11	A	G	16: 11,087,775		probably null	Het
Usp24	T	A	4: 106,438,827	D2615E	probably damaging	Het
Vars	A	G	17: 35,014,758	E1020G	possibly damaging	Het
Vmn2r58	A	G	7: 41,860,527	I542T	probably benign	Het
Vwf	A	G	6: 125,643,069	Y1570C	probably damaging	Het
Vwf	A	T	6: 125,685,900	Y2749F	possibly damaging	Het
Zfand1	A	C	3: 10,341,055	V198G	possibly damaging	Het
Zfp536	G	A	7: 37,569,454	T179I	probably damaging	Het
Zfp599	T	C	9: 22,250,404	Y155C	probably benign	Het

Other mutations in Fer1l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Fer1l4	APN	2	156019920	nonsense	probably null
IGL01025:Fer1l4	APN	2	156052185	missense	probably benign	0.41
IGL01103:Fer1l4	APN	2	156044441	critical splice donor site	probably null
IGL01322:Fer1l4	APN	2	156020339	splice site	probably null
IGL01391:Fer1l4	APN	2	156036456	missense	probably damaging	1.00
IGL02176:Fer1l4	APN	2	156048451	missense	probably benign
IGL02267:Fer1l4	APN	2	156031252	missense	possibly damaging	0.60
IGL02291:Fer1l4	APN	2	156019538	missense	probably damaging	1.00
IGL02385:Fer1l4	APN	2	156045428	missense	probably benign	0.04
IGL02423:Fer1l4	APN	2	156052907	missense	probably benign	0.04
IGL02596:Fer1l4	APN	2	156039132	missense	probably benign
IGL02612:Fer1l4	APN	2	156047928	missense	probably damaging	1.00
IGL02716:Fer1l4	APN	2	156029715	missense	probably damaging	1.00
IGL02738:Fer1l4	APN	2	156045728	missense	probably benign
IGL03035:Fer1l4	APN	2	156022606	missense	possibly damaging	0.95
IGL03083:Fer1l4	APN	2	156039366	unclassified	probably benign
IGL03201:Fer1l4	APN	2	156044730	missense	probably benign	0.32
IGL03349:Fer1l4	APN	2	156044734	nonsense	probably null
R0033:Fer1l4	UTSW	2	156024106	splice site	probably benign
R0356:Fer1l4	UTSW	2	156024010	missense	probably damaging	1.00
R0477:Fer1l4	UTSW	2	156052886	missense	probably benign	0.43
R0504:Fer1l4	UTSW	2	156052195	missense	probably benign	0.36
R0731:Fer1l4	UTSW	2	156024070	missense	probably benign	0.17
R0800:Fer1l4	UTSW	2	156045663	missense	possibly damaging	0.90
R0884:Fer1l4	UTSW	2	156019313	missense	possibly damaging	0.93
R1017:Fer1l4	UTSW	2	156049478	critical splice acceptor site	probably null
R1266:Fer1l4	UTSW	2	156046249	missense	possibly damaging	0.89
R1544:Fer1l4	UTSW	2	156045633	missense	probably benign	0.00
R1657:Fer1l4	UTSW	2	156035598	missense	possibly damaging	0.95
R1816:Fer1l4	UTSW	2	156035199	missense	probably damaging	0.98
R1950:Fer1l4	UTSW	2	156048274	missense	probably damaging	1.00
R2117:Fer1l4	UTSW	2	156039118	missense	probably benign	0.00
R2219:Fer1l4	UTSW	2	156031764	missense	probably damaging	0.99
R2220:Fer1l4	UTSW	2	156031764	missense	probably damaging	0.99
R2879:Fer1l4	UTSW	2	156052200	missense	probably damaging	1.00
R3746:Fer1l4	UTSW	2	156035048	missense	probably benign	0.01
R3806:Fer1l4	UTSW	2	156045683	missense	probably damaging	1.00
R3807:Fer1l4	UTSW	2	156045683	missense	probably damaging	1.00
R4224:Fer1l4	UTSW	2	156020389	missense	probably benign	0.37
R4274:Fer1l4	UTSW	2	156020544	missense	probably damaging	1.00
R4569:Fer1l4	UTSW	2	156036639	missense	possibly damaging	0.77
R4619:Fer1l4	UTSW	2	156047087	missense	probably damaging	1.00
R4707:Fer1l4	UTSW	2	156045623	missense	possibly damaging	0.69
R4914:Fer1l4	UTSW	2	156031300	missense	probably benign	0.41
R4915:Fer1l4	UTSW	2	156031300	missense	probably benign	0.41
R4917:Fer1l4	UTSW	2	156031300	missense	probably benign	0.41
R4918:Fer1l4	UTSW	2	156031300	missense	probably benign	0.41
R4941:Fer1l4	UTSW	2	156045089	missense	probably damaging	1.00
R5011:Fer1l4	UTSW	2	156031215	missense	probably damaging	1.00
R5013:Fer1l4	UTSW	2	156031215	missense	probably damaging	1.00
R5130:Fer1l4	UTSW	2	156049466	missense	possibly damaging	0.54
R5385:Fer1l4	UTSW	2	156037366	nonsense	probably null
R5441:Fer1l4	UTSW	2	156023257	missense	probably benign	0.00
R5555:Fer1l4	UTSW	2	156048189	missense	probably damaging	1.00
R5838:Fer1l4	UTSW	2	156051993	missense	probably benign	0.01
R6125:Fer1l4	UTSW	2	156046987	missense	probably damaging	1.00
R6184:Fer1l4	UTSW	2	156048291	missense	probably damaging	1.00
R6246:Fer1l4	UTSW	2	156024982	missense	probably damaging	0.99
R6248:Fer1l4	UTSW	2	156046171	missense	probably damaging	1.00
R6274:Fer1l4	UTSW	2	156029268	missense	probably damaging	1.00
R6298:Fer1l4	UTSW	2	156024740	missense	probably damaging	1.00
R6362:Fer1l4	UTSW	2	156048250	missense	probably benign	0.08
R6490:Fer1l4	UTSW	2	156047914	missense	possibly damaging	0.94
R6494:Fer1l4	UTSW	2	156045470	missense	probably benign	0.02
R6516:Fer1l4	UTSW	2	156035199	missense	probably damaging	0.98
R6530:Fer1l4	UTSW	2	156047865	critical splice donor site	probably null
R6740:Fer1l4	UTSW	2	156031222	missense	probably damaging	1.00
R7039:Fer1l4	UTSW	2	156036730	missense	probably benign	0.05
R7121:Fer1l4	UTSW	2	156044557	missense	probably benign	0.13
R7132:Fer1l4	UTSW	2	156045626	missense	probably damaging	0.98
R7382:Fer1l4	UTSW	2	156020749	nonsense	probably null
R7631:Fer1l4	UTSW	2	156048275	missense	probably damaging	1.00
R7693:Fer1l4	UTSW	2	156020431	missense	possibly damaging	0.51
R7730:Fer1l4	UTSW	2	156048934	missense	probably benign
R8021:Fer1l4	UTSW	2	156022591	missense	probably damaging	0.98
R8161:Fer1l4	UTSW	2	156024635	missense	probably benign	0.03
R8171:Fer1l4	UTSW	2	156048231	missense	probably benign	0.29
R8241:Fer1l4	UTSW	2	156049665	missense	probably benign
R8245:Fer1l4	UTSW	2	156045014	critical splice donor site	probably null
R8280:Fer1l4	UTSW	2	156049700	missense	probably damaging	1.00
R8369:Fer1l4	UTSW	2	156019760	missense	probably benign	0.17
R8403:Fer1l4	UTSW	2	156052243	missense	possibly damaging	0.88
R8702:Fer1l4	UTSW	2	156019390	missense	probably benign	0.00
R8804:Fer1l4	UTSW	2	156051994	missense	probably benign	0.28
R8814:Fer1l4	UTSW	2	156052243	missense	probably benign	0.04
R8817:Fer1l4	UTSW	2	156048223	missense	probably damaging	0.99
R9325:Fer1l4	UTSW	2	156036014	missense	probably damaging	1.00
R9342:Fer1l4	UTSW	2	156035276	missense	probably benign	0.08
R9527:Fer1l4	UTSW	2	156029697	missense	probably damaging	0.96
R9661:Fer1l4	UTSW	2	156020416	missense	probably damaging	0.98
RF030:Fer1l4	UTSW	2	156045529	small deletion	probably benign
X0063:Fer1l4	UTSW	2	156035011	missense	probably damaging	1.00
Z1177:Fer1l4	UTSW	2	156048429	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- TGCGCCATGAGGATGAACCAAC -3'
(R):5'- AGCAATCGCTACCCTGAAGGTGAC -3'

Sequencing Primer
(F):5'- tcccacaggtcagaggag -3'
(R):5'- CCTGAAGGTGACGGGGTG -3'

Posted On

2014-05-14