Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03201:Fer1l4'

412988

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fer1l4

Ensembl Gene

ENSMUSG00000013338

Gene Name

fer-1 like family member 4

Synonyms

9130402C12Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03201

Quality Score

Status

Chromosome

Chromosomal Location

155861059-155894867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155886650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 693 (D693V)

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: D693V

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338
AA Change: D693V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4galt	T	C	15: 83,112,468 (GRCm39)	E105G	probably damaging	Het
Apc	A	G	18: 34,445,429 (GRCm39)	D757G	probably damaging	Het
Arpc3	A	T	5: 122,539,781 (GRCm39)	I45F	probably damaging	Het
C3	C	A	17: 57,529,249 (GRCm39)	V597L	probably damaging	Het
Ccdc181	A	G	1: 164,108,213 (GRCm39)	N299D	probably benign	Het
Cdr1	T	A	X: 60,229,154 (GRCm39)	Q4L	unknown	Het
Cep170	G	A	1: 176,564,454 (GRCm39)	S1464F	probably damaging	Het
Cfh	A	G	1: 140,030,557 (GRCm39)	Y826H	probably damaging	Het
Chic2	A	G	5: 75,171,954 (GRCm39)		probably benign	Het
Chrne	T	C	11: 70,509,338 (GRCm39)	H81R	probably benign	Het
Clec4e	A	G	6: 123,260,599 (GRCm39)	I153T	probably benign	Het
Col14a1	A	T	15: 55,272,300 (GRCm39)	D699V	unknown	Het
Cul3	T	G	1: 80,259,144 (GRCm39)	S379R	probably damaging	Het
Cyp3a11	T	A	5: 145,797,189 (GRCm39)	I397F	possibly damaging	Het
Dnah1	T	C	14: 31,022,906 (GRCm39)	K1077R	probably benign	Het
Dnajc18	A	G	18: 35,813,972 (GRCm39)	S266P	probably benign	Het
Dydc1	T	G	14: 40,800,647 (GRCm39)	L74R	probably damaging	Het
Echdc2	G	T	4: 108,027,067 (GRCm39)	A71S	possibly damaging	Het
Fscn3	T	C	6: 28,430,604 (GRCm39)	V258A	probably benign	Het
Herc2	T	A	7: 55,869,516 (GRCm39)	I4255N	probably damaging	Het
Il1rl2	A	G	1: 40,382,200 (GRCm39)	I171V	possibly damaging	Het
Ino80d	G	T	1: 63,097,467 (GRCm39)	T809K	probably damaging	Het
Lama2	A	T	10: 27,220,566 (GRCm39)	L433*	probably null	Het
Nlrp9c	A	T	7: 26,084,533 (GRCm39)	S349T	probably benign	Het
Parp11	T	C	6: 127,466,981 (GRCm39)	I124T	possibly damaging	Het
Parp8	A	T	13: 116,999,605 (GRCm39)		probably benign	Het
Pgm1	T	C	4: 99,827,236 (GRCm39)	F379L	probably damaging	Het
Phf21b	T	C	15: 84,671,448 (GRCm39)	H482R	probably benign	Het
Phka1	A	C	X: 101,584,716 (GRCm39)		probably null	Het
Plekhh1	T	C	12: 79,100,430 (GRCm39)	W133R	probably damaging	Het
Polr2a	A	C	11: 69,636,516 (GRCm39)	L405*	probably null	Het
Prrg3	T	A	X: 71,010,108 (GRCm39)	V3E	probably damaging	Het
Pth1r	T	C	9: 110,551,648 (GRCm39)	K484E	probably damaging	Het
Rcbtb1	T	C	14: 59,460,727 (GRCm39)	L230P	probably damaging	Het
Slc51a	G	A	16: 32,297,568 (GRCm39)	R110C	probably damaging	Het
Ssbp2	T	C	13: 91,672,720 (GRCm39)	Y27H	probably damaging	Het
Sult2a4	A	G	7: 13,665,692 (GRCm39)	V157A	probably damaging	Het
Tbx15	G	A	3: 99,259,296 (GRCm39)	S389N	probably benign	Het
Ttn	T	G	2: 76,671,424 (GRCm39)		probably benign	Het
Ube2n	T	C	10: 95,378,127 (GRCm39)		probably benign	Het
Wdr95	G	A	5: 149,505,352 (GRCm39)		probably null	Het
Wsb2	T	C	5: 117,514,620 (GRCm39)	S298P	possibly damaging	Het
Zc3h7a	T	C	16: 10,974,166 (GRCm39)		probably null	Het
Zfat	A	G	15: 68,037,758 (GRCm39)	C906R	probably damaging	Het
Zfp747	G	A	7: 126,973,180 (GRCm39)	T330I	probably damaging	Het
Zfp949	A	G	9: 88,450,717 (GRCm39)	R96G	probably benign	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
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
R6530:Fer1l4	UTSW	2	155,889,785 (GRCm39)	critical splice donor site	probably null
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

Posted On

2016-08-02