Mutagenetix > Incidental Mutation

Incidental Mutation 'R6530:Fer1l4'

522249

Institutional Source

Beutler Lab

Gene Symbol

Fer1l4

Ensembl Gene

ENSMUSG00000013338

Gene Name

fer-1 like family member 4

Synonyms

9130402C12Rik

MMRRC Submission

044656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6530 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155861059-155894867 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 155889785 bp (GRCm39)

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 null
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: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.1%

Validation Efficiency

100% (36/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox3	T	C	5: 35,746,039 (GRCm39)	L74P	possibly damaging	Het
Adamtsl4	T	C	3: 95,588,364 (GRCm39)	T575A	probably benign	Het
Adck5	T	G	15: 76,478,047 (GRCm39)	D224E	probably benign	Het
Asic4	A	G	1: 75,448,979 (GRCm39)	N376S	probably damaging	Het
Atl3	T	A	19: 7,499,499 (GRCm39)	D254E	probably benign	Het
Cacnb2	G	T	2: 14,979,978 (GRCm39)	A274S	probably damaging	Het
Car2	T	C	3: 14,961,791 (GRCm39)	V159A	probably benign	Het
Ccdc138	G	C	10: 58,380,790 (GRCm39)	G474R	probably damaging	Het
Coq7	T	C	7: 118,124,558 (GRCm39)	T203A	probably benign	Het
Dnah12	T	C	14: 26,456,865 (GRCm39)	I877T	probably damaging	Het
Dnah7a	C	T	1: 53,542,856 (GRCm39)	R2438H	probably benign	Het
Efhc1	T	A	1: 21,031,366 (GRCm39)		probably null	Het
Fbn1	G	A	2: 125,231,190 (GRCm39)	R459C	probably damaging	Het
Gm5114	G	A	7: 39,057,514 (GRCm39)	P702S	probably damaging	Het
Inpp5f	T	A	7: 128,265,802 (GRCm39)	Y182*	probably null	Het
Irf6	C	T	1: 192,839,657 (GRCm39)	T44M	probably damaging	Het
Loxhd1	A	G	18: 77,499,847 (GRCm39)	N87S	probably benign	Het
Mtrf1	A	T	14: 79,640,331 (GRCm39)	Q162L	possibly damaging	Het
Myoz3	G	T	18: 60,712,592 (GRCm39)		probably null	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Nkd2	C	T	13: 73,970,809 (GRCm39)	G258R	probably null	Het
Or8k27	A	C	2: 86,275,826 (GRCm39)	S167A	probably benign	Het
Parg	T	C	14: 31,931,156 (GRCm39)	S176P	probably damaging	Het
Prdm2	A	C	4: 142,860,617 (GRCm39)	V891G	probably benign	Het
Rasl10a	T	A	11: 5,008,367 (GRCm39)	I21N	probably damaging	Het
Reg4	T	C	3: 98,132,148 (GRCm39)	V20A	probably benign	Het
Shprh	T	A	10: 11,070,011 (GRCm39)	S1462R	probably benign	Het
Spmip1	G	A	6: 29,471,950 (GRCm39)		probably null	Het
Sult1e1	T	C	5: 87,724,147 (GRCm39)	E270G	probably benign	Het
Trpm7	A	C	2: 126,654,631 (GRCm39)	F1436V	probably damaging	Het
Ttc33	A	G	15: 5,241,603 (GRCm39)		probably null	Het
Ucp2	A	T	7: 100,147,430 (GRCm39)	E161D	probably benign	Het
Vmn2r79	T	C	7: 86,651,252 (GRCm39)	F217S	possibly damaging	Het
Wdr93	G	A	7: 79,405,741 (GRCm39)	A207T	probably damaging	Het
Zbed6	A	G	1: 133,586,939 (GRCm39)	S133P	probably damaging	Het
Zfp949	T	C	9: 88,449,340 (GRCm39)		probably null	Het

Other mutations in Fer1l4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00417:Fer1l4	APN	2	155,861,840 (GRCm39)	nonsense	probably null
IGL01025:Fer1l4	APN	2	155,894,105 (GRCm39)	missense	probably benign	0.41
IGL01103:Fer1l4	APN	2	155,886,361 (GRCm39)	critical splice donor site	probably null
IGL01322:Fer1l4	APN	2	155,862,259 (GRCm39)	splice site	probably null
IGL01391:Fer1l4	APN	2	155,878,376 (GRCm39)	missense	probably damaging	1.00
IGL02176:Fer1l4	APN	2	155,890,371 (GRCm39)	missense	probably benign
IGL02267:Fer1l4	APN	2	155,873,172 (GRCm39)	missense	possibly damaging	0.60
IGL02291:Fer1l4	APN	2	155,861,458 (GRCm39)	missense	probably damaging	1.00
IGL02385:Fer1l4	APN	2	155,887,348 (GRCm39)	missense	probably benign	0.04
IGL02423:Fer1l4	APN	2	155,894,827 (GRCm39)	missense	probably benign	0.04
IGL02596:Fer1l4	APN	2	155,881,052 (GRCm39)	missense	probably benign
IGL02612:Fer1l4	APN	2	155,889,848 (GRCm39)	missense	probably damaging	1.00
IGL02716:Fer1l4	APN	2	155,871,635 (GRCm39)	missense	probably damaging	1.00
IGL02738:Fer1l4	APN	2	155,887,648 (GRCm39)	missense	probably benign
IGL03035:Fer1l4	APN	2	155,864,526 (GRCm39)	missense	possibly damaging	0.95
IGL03083:Fer1l4	APN	2	155,881,286 (GRCm39)	unclassified	probably benign
IGL03201:Fer1l4	APN	2	155,886,650 (GRCm39)	missense	probably benign	0.32
IGL03349:Fer1l4	APN	2	155,886,654 (GRCm39)	nonsense	probably null
R0033:Fer1l4	UTSW	2	155,866,026 (GRCm39)	splice site	probably benign
R0356:Fer1l4	UTSW	2	155,865,930 (GRCm39)	missense	probably damaging	1.00
R0477:Fer1l4	UTSW	2	155,894,806 (GRCm39)	missense	probably benign	0.43
R0504:Fer1l4	UTSW	2	155,894,115 (GRCm39)	missense	probably benign	0.36
R0731:Fer1l4	UTSW	2	155,865,990 (GRCm39)	missense	probably benign	0.17
R0800:Fer1l4	UTSW	2	155,887,583 (GRCm39)	missense	possibly damaging	0.90
R0884:Fer1l4	UTSW	2	155,861,233 (GRCm39)	missense	possibly damaging	0.93
R1017:Fer1l4	UTSW	2	155,891,398 (GRCm39)	critical splice acceptor site	probably null
R1266:Fer1l4	UTSW	2	155,888,169 (GRCm39)	missense	possibly damaging	0.89
R1544:Fer1l4	UTSW	2	155,887,553 (GRCm39)	missense	probably benign	0.00
R1657:Fer1l4	UTSW	2	155,877,518 (GRCm39)	missense	possibly damaging	0.95
R1699:Fer1l4	UTSW	2	155,871,605 (GRCm39)	missense	probably benign	0.14
R1816:Fer1l4	UTSW	2	155,877,119 (GRCm39)	missense	probably damaging	0.98
R1950:Fer1l4	UTSW	2	155,890,194 (GRCm39)	missense	probably damaging	1.00
R2117:Fer1l4	UTSW	2	155,881,038 (GRCm39)	missense	probably benign	0.00
R2219:Fer1l4	UTSW	2	155,873,684 (GRCm39)	missense	probably damaging	0.99
R2220:Fer1l4	UTSW	2	155,873,684 (GRCm39)	missense	probably damaging	0.99
R2879:Fer1l4	UTSW	2	155,894,120 (GRCm39)	missense	probably damaging	1.00
R3746:Fer1l4	UTSW	2	155,876,968 (GRCm39)	missense	probably benign	0.01
R3806:Fer1l4	UTSW	2	155,887,603 (GRCm39)	missense	probably damaging	1.00
R3807:Fer1l4	UTSW	2	155,887,603 (GRCm39)	missense	probably damaging	1.00
R4224:Fer1l4	UTSW	2	155,862,309 (GRCm39)	missense	probably benign	0.37
R4274:Fer1l4	UTSW	2	155,862,464 (GRCm39)	missense	probably damaging	1.00
R4569:Fer1l4	UTSW	2	155,878,559 (GRCm39)	missense	possibly damaging	0.77
R4619:Fer1l4	UTSW	2	155,889,007 (GRCm39)	missense	probably damaging	1.00
R4707:Fer1l4	UTSW	2	155,887,543 (GRCm39)	missense	possibly damaging	0.69
R4914:Fer1l4	UTSW	2	155,873,220 (GRCm39)	missense	probably benign	0.41
R4915:Fer1l4	UTSW	2	155,873,220 (GRCm39)	missense	probably benign	0.41
R4917:Fer1l4	UTSW	2	155,873,220 (GRCm39)	missense	probably benign	0.41
R4918:Fer1l4	UTSW	2	155,873,220 (GRCm39)	missense	probably benign	0.41
R4941:Fer1l4	UTSW	2	155,887,009 (GRCm39)	missense	probably damaging	1.00
R5011:Fer1l4	UTSW	2	155,873,135 (GRCm39)	missense	probably damaging	1.00
R5013:Fer1l4	UTSW	2	155,873,135 (GRCm39)	missense	probably damaging	1.00
R5130:Fer1l4	UTSW	2	155,891,386 (GRCm39)	missense	possibly damaging	0.54
R5385:Fer1l4	UTSW	2	155,879,286 (GRCm39)	nonsense	probably null
R5441:Fer1l4	UTSW	2	155,865,177 (GRCm39)	missense	probably benign	0.00
R5555:Fer1l4	UTSW	2	155,890,109 (GRCm39)	missense	probably damaging	1.00
R5838:Fer1l4	UTSW	2	155,893,913 (GRCm39)	missense	probably benign	0.01
R6125:Fer1l4	UTSW	2	155,888,907 (GRCm39)	missense	probably damaging	1.00
R6184:Fer1l4	UTSW	2	155,890,211 (GRCm39)	missense	probably damaging	1.00
R6246:Fer1l4	UTSW	2	155,866,902 (GRCm39)	missense	probably damaging	0.99
R6248:Fer1l4	UTSW	2	155,888,091 (GRCm39)	missense	probably damaging	1.00
R6274:Fer1l4	UTSW	2	155,871,188 (GRCm39)	missense	probably damaging	1.00
R6298:Fer1l4	UTSW	2	155,866,660 (GRCm39)	missense	probably damaging	1.00
R6362:Fer1l4	UTSW	2	155,890,170 (GRCm39)	missense	probably benign	0.08
R6490:Fer1l4	UTSW	2	155,889,834 (GRCm39)	missense	possibly damaging	0.94
R6494:Fer1l4	UTSW	2	155,887,390 (GRCm39)	missense	probably benign	0.02
R6516:Fer1l4	UTSW	2	155,877,119 (GRCm39)	missense	probably damaging	0.98
R6740:Fer1l4	UTSW	2	155,873,142 (GRCm39)	missense	probably damaging	1.00
R7039:Fer1l4	UTSW	2	155,878,650 (GRCm39)	missense	probably benign	0.05
R7121:Fer1l4	UTSW	2	155,886,477 (GRCm39)	missense	probably benign	0.13
R7132:Fer1l4	UTSW	2	155,887,546 (GRCm39)	missense	probably damaging	0.98
R7382:Fer1l4	UTSW	2	155,862,669 (GRCm39)	nonsense	probably null
R7631:Fer1l4	UTSW	2	155,890,195 (GRCm39)	missense	probably damaging	1.00
R7693:Fer1l4	UTSW	2	155,862,351 (GRCm39)	missense	possibly damaging	0.51
R7730:Fer1l4	UTSW	2	155,890,854 (GRCm39)	missense	probably benign
R8021:Fer1l4	UTSW	2	155,864,511 (GRCm39)	missense	probably damaging	0.98
R8161:Fer1l4	UTSW	2	155,866,555 (GRCm39)	missense	probably benign	0.03
R8171:Fer1l4	UTSW	2	155,890,151 (GRCm39)	missense	probably benign	0.29
R8241:Fer1l4	UTSW	2	155,891,585 (GRCm39)	missense	probably benign
R8245:Fer1l4	UTSW	2	155,886,934 (GRCm39)	critical splice donor site	probably null
R8280:Fer1l4	UTSW	2	155,891,620 (GRCm39)	missense	probably damaging	1.00
R8369:Fer1l4	UTSW	2	155,861,680 (GRCm39)	missense	probably benign	0.17
R8403:Fer1l4	UTSW	2	155,894,163 (GRCm39)	missense	possibly damaging	0.88
R8702:Fer1l4	UTSW	2	155,861,310 (GRCm39)	missense	probably benign	0.00
R8804:Fer1l4	UTSW	2	155,893,914 (GRCm39)	missense	probably benign	0.28
R8814:Fer1l4	UTSW	2	155,894,163 (GRCm39)	missense	probably benign	0.04
R8817:Fer1l4	UTSW	2	155,890,143 (GRCm39)	missense	probably damaging	0.99
R9325:Fer1l4	UTSW	2	155,877,934 (GRCm39)	missense	probably damaging	1.00
R9342:Fer1l4	UTSW	2	155,877,196 (GRCm39)	missense	probably benign	0.08
R9527:Fer1l4	UTSW	2	155,871,617 (GRCm39)	missense	probably damaging	0.96
R9661:Fer1l4	UTSW	2	155,862,336 (GRCm39)	missense	probably damaging	0.98
RF030:Fer1l4	UTSW	2	155,887,449 (GRCm39)	small deletion	probably benign
X0063:Fer1l4	UTSW	2	155,876,931 (GRCm39)	missense	probably damaging	1.00
Z1177:Fer1l4	UTSW	2	155,890,349 (GRCm39)	missense	probably null	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCTGGTGGCCATAAACGG -3'
(R):5'- AAGAGTACGTAGGTGCCTTTTAG -3'

Sequencing Primer
(F):5'- TCTGCGAGTGGAAAGCCTG -3'
(R):5'- CTTTTAGGAAAGGGACCGCATTCTC -3'

Posted On

2018-06-06