Mutagenetix > Incidental Mutation

Incidental Mutation 'RF030:Fer1l4'

604294

Institutional Source

Beutler Lab

Gene Symbol

Fer1l4

Ensembl Gene

ENSMUSG00000013338

Gene Name

fer-1-like 4 (C. elegans)

Synonyms

9130402C12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF030 (G1)

Quality Score

173.457

Status

Not validated

Chromosome

Chromosomal Location

156019139-156052947 bp(-) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

GGTC to G at 156045529 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338

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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.5%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	GGC	GGCTGC	19: 5,425,226		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,425,235		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,012,292		probably benign	Het
Ankhd1	GCGGCG	GCGGCGCCGGCG	18: 36,560,913		probably benign	Het
Ankhd1	GGCGGCAGC	GGCGGCAGCGGCAGC	18: 36,560,927		probably benign	Het
AY761185	GGGCACTGTGG	GGG	8: 20,943,900		probably null	Het
B430218F22Rik	GG	GGTCGGCG	13: 118,386,848		probably benign	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG	19: 47,141,253		probably benign	Het
Cox7a2l	GGA	GGATAGGGA	17: 83,502,722		probably benign	Het
Cul9	CCTC	CCTCCTC	17: 46,500,869		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,409		probably benign	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC	9: 87,040,415		probably benign	Het
Dmkn	GTG	GTGTTGGAAGTGGTGGAAGTGGTGGAAATG	7: 30,767,182		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 73,640,611		probably benign	Het
Eed	C	A	7: 89,955,032	A411S	probably benign	Het
Frem3	GATC	GATCATC	8: 80,615,238		probably benign	Het
Gab3	CTTTT	CT	X: 74,999,977		probably benign	Het
Gab3	TCT	TCTGCT	X: 75,000,005		probably benign	Het
Gab3	TCT	TCTCCT	X: 75,000,008		probably benign	Het
Gab3	TTC	TTCGTC	X: 75,000,025		probably benign	Het
Gab3	TCT	TCTGCT	X: 75,000,026		probably benign	Het
Gm35339	AGGAGGAGG	AG	15: 76,363,165		probably null	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,427,156		probably null	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,671,393		probably null	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,408,641		probably benign	Het
Gucy2d	C	CTGGGGCCTG	7: 98,459,034		probably benign	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGACACAGCTGCAG	4: 59,610,647		probably benign	Het
Idh2	GGTCCCAG	GG	7: 80,098,329		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,125,827		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,125,842		probably benign	Het
Kmt2b	CTCCTC	CTCCTCTTCCTC	7: 30,586,377		probably benign	Het
Lce1m	C	CGGCTGCTGCCAA	3: 93,018,141		probably benign	Het
Lce1m	GCTGCCAC	GCTGCCACAGCAACTTCTGCCAC	3: 93,018,344		probably benign	Het
Lrmp	ATTG	ATTGAGCACGTTG	6: 145,173,788		probably benign	Het
Lrmp	TG	TGAGCACATGG	6: 145,173,790		probably benign	Het
Mamld1	CAG	CAGTAG	X: 71,118,828		probably null	Het
Map1a	CAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA	2: 121,306,311		probably benign	Het
Map1a	CA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA	2: 121,306,317		probably benign	Het
Med12l	GCA	GCATCA	3: 59,275,989		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,076,111		probably null	Het
Pdik1l	C	CCACCAA	4: 134,279,516		probably benign	Het
Pkhd1l1	TTTTTTT	TTTTTTTTTGTTTTTT	15: 44,558,502		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	10: 84,858,480		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,785,301		probably benign	Het
Setd1a	GGTGGTAGT	GGTGGTAGTTGTGGTAGT	7: 127,785,311		probably benign	Het
Six5	CGGA	C	7: 19,094,800		probably benign	Het
Tcof1	CCAGA	CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA	18: 60,833,568		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC	18: 60,833,574		probably benign	Het
Tcof1	CTGCTGCTGC	CTGCTGCTGCTGC	18: 60,835,723		probably benign	Het
Tfeb	AGC	AGCCGC	17: 47,786,111		probably benign	Het
Tfeb	GCA	GCACCA	17: 47,786,112		probably benign	Het
Tfeb	CAG	CAGAAG	17: 47,786,113		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,616,036		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Thegl	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,016,401		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973		probably benign	Het
Trappc9	TGCTGCT	TGCTGCTGCTGCTGCGGCTGCT	15: 72,801,325		probably benign	Het
Tsen2	GGA	GGACGA	6: 115,560,067		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483		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
R1699:Fer1l4	UTSW	2	156029685	missense	probably benign	0.14
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
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'- TACCATGCTTAGATACACCAGC -3'
(R):5'- GTCTCAACGAAGGTCTTGGC -3'

Sequencing Primer
(F):5'- GTGTGCACATGACAGGACTCTTC -3'
(R):5'- GCGAAGGCATTTGGTTCC -3'

Posted On

2019-12-04