Mutagenetix > Incidental Mutation

Incidental Mutation 'R2220:Fer1l4'

241405

Institutional Source

Beutler Lab

Gene Symbol

Fer1l4

Ensembl Gene

ENSMUSG00000013338

Gene Name

fer-1 like family member 4

Synonyms

9130402C12Rik

MMRRC Submission

040222-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2220 (G1)

Quality Score

219

Status

Not validated

Chromosome

Chromosomal Location

155861059-155894867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 155873684 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Serine at position 1207 (Y1207S)

Ref Sequence

ENSEMBL: ENSMUSP00000105240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109611] [ENSMUST00000130764]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000109611
AA Change: Y1207S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338
AA Change: Y1207S

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

probably benign
Transcript: ENSMUST00000130764

SMART Domains

Protein: ENSMUSP00000114324
Gene: ENSMUSG00000013338

Domain	Start	End	E-Value	Type
Blast:FerB	1	26	3e-9	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000132912

SMART Domains

Protein: ENSMUSP00000123091
Gene: ENSMUSG00000013338

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: ENSMUST00000150144

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150538

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	T	C	4: 144,344,572 (GRCm39)	I116T	probably damaging	Het
Aatk	G	T	11: 119,903,003 (GRCm39)	F407L	probably damaging	Het
Abca8a	A	T	11: 109,917,681 (GRCm39)	L1586Q	probably damaging	Het
Aox1	A	G	1: 58,388,289 (GRCm39)		probably null	Het
Ap5m1	A	G	14: 49,318,552 (GRCm39)	D420G	probably damaging	Het
Bcl6	A	T	16: 23,791,382 (GRCm39)	L324*	probably null	Het
Bicc1	A	G	10: 70,785,955 (GRCm39)	S396P	probably damaging	Het
Bltp1	T	C	3: 36,929,679 (GRCm39)		probably null	Het
Ccdc83	G	A	7: 89,908,722 (GRCm39)	S4L	probably damaging	Het
Cdkal1	T	A	13: 29,538,741 (GRCm39)	M473L	probably benign	Het
Cep85	T	C	4: 133,881,178 (GRCm39)	H363R	probably damaging	Het
Cfap61	G	A	2: 145,878,736 (GRCm39)		probably null	Het
Cfap65	T	C	1: 74,943,184 (GRCm39)	I1614V	probably damaging	Het
Cluh	T	A	11: 74,557,947 (GRCm39)	F1062I	probably damaging	Het
Cntnap5a	A	T	1: 116,508,369 (GRCm39)	T1294S	possibly damaging	Het
Cops8	A	C	1: 90,534,341 (GRCm39)	N94T	probably benign	Het
Csmd1	T	C	8: 16,042,641 (GRCm39)	D2364G	possibly damaging	Het
Cyb5d1	T	C	11: 69,285,871 (GRCm39)	D55G	probably benign	Het
Cyp2c29	A	T	19: 39,275,676 (GRCm39)	I39F	probably benign	Het
Cyp2j8	T	C	4: 96,332,862 (GRCm39)	S495G	probably benign	Het
Dhx30	A	G	9: 109,916,703 (GRCm39)	L575P	probably damaging	Het
Dnah7a	C	T	1: 53,560,333 (GRCm39)	V2113I	probably benign	Het
Dusp3	T	C	11: 101,865,631 (GRCm39)	N95D	probably damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Flg2	T	G	3: 93,109,492 (GRCm39)	S507A	unknown	Het
Gdf6	A	G	4: 9,844,770 (GRCm39)	H98R	probably damaging	Het
Ggnbp2	T	C	11: 84,727,439 (GRCm39)	N63S	possibly damaging	Het
Ggt7	A	G	2: 155,337,639 (GRCm39)	S504P	probably damaging	Het
Gtf2h5	G	A	17: 6,134,853 (GRCm39)	E48K	probably benign	Het
Hivep3	T	G	4: 119,591,235 (GRCm39)	V81G	possibly damaging	Het
Igsf21	A	G	4: 139,755,425 (GRCm39)	M410T	probably damaging	Het
Insrr	T	C	3: 87,716,725 (GRCm39)	L651P	probably damaging	Het
Iqcb1	A	T	16: 36,663,824 (GRCm39)		probably null	Het
Klhdc7a	G	A	4: 139,692,764 (GRCm39)	R728C	probably benign	Het
Lars2	T	C	9: 123,247,845 (GRCm39)	L334P	probably damaging	Het
Mast3	T	C	8: 71,233,607 (GRCm39)	E994G	probably damaging	Het
Mertk	T	A	2: 128,643,392 (GRCm39)	N930K	probably benign	Het
Mettl21a	A	T	1: 64,655,442 (GRCm39)	V46E	probably damaging	Het
Nedd4	T	A	9: 72,643,989 (GRCm39)	C614S	probably damaging	Het
Or13a19	T	C	7: 139,903,484 (GRCm39)	S291P	probably benign	Het
Or2l13b	A	T	16: 19,348,895 (GRCm39)	Y258*	probably null	Het
Or5k1	G	T	16: 58,617,987 (GRCm39)	A74D	possibly damaging	Het
Pard3b	C	T	1: 62,518,842 (GRCm39)	R976*	probably null	Het
Pcdhb16	A	G	18: 37,612,020 (GRCm39)	T327A	probably benign	Het
Pira12	A	T	7: 3,900,488 (GRCm39)	N87K	probably benign	Het
Ppp1r37	C	A	7: 19,266,371 (GRCm39)	R465L	probably null	Het
Ppp3ca	C	A	3: 136,503,685 (GRCm39)	T86K	probably damaging	Het
Ralgapa2	G	A	2: 146,263,599 (GRCm39)	T706I	probably benign	Het
Rnf213	T	C	11: 119,327,254 (GRCm39)	L1747P	possibly damaging	Het
Slc11a1	T	A	1: 74,419,824 (GRCm39)	F166I	probably damaging	Het
Slc25a18	G	A	6: 120,770,518 (GRCm39)		probably null	Het
Stt3a	A	G	9: 36,660,847 (GRCm39)		probably null	Het
Supt16	G	A	14: 52,409,601 (GRCm39)	R770*	probably null	Het
Syde2	A	G	3: 145,707,713 (GRCm39)	I551V	probably benign	Het
Tasor2	A	T	13: 3,631,872 (GRCm39)	N876K	probably benign	Het
Tecta	T	C	9: 42,303,326 (GRCm39)	D102G	probably damaging	Het
Tmc7	A	T	7: 118,152,039 (GRCm39)	I294N	possibly damaging	Het
Tmem174	T	C	13: 98,773,767 (GRCm39)	Y21C	probably damaging	Het
Tomm40l	A	T	1: 171,049,550 (GRCm39)	L13*	probably null	Het
Trim30c	A	G	7: 104,032,474 (GRCm39)	V284A	probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Uggt2	A	T	14: 119,312,749 (GRCm39)	N353K	probably damaging	Het
Vps13d	C	T	4: 144,904,890 (GRCm39)	V79M	probably damaging	Het
Wfdc18	C	T	11: 83,600,739 (GRCm39)	R45*	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
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

Predicted Primers

PCR Primer
(F):5'- AGAGGGGCTTCTATCTGCTG -3'
(R):5'- CCTTCTTTACCTGGGCAGAG -3'

Sequencing Primer
(F):5'- GAGAACACTCCTGACCTTGAGG -3'
(R):5'- CTTCTTTACCTGGGCAGAGACAGAG -3'

Posted On

2014-10-15