Mutagenetix > Incidental Mutation

Incidental Mutation 'R4224:Fer1l4'

319952

Institutional Source

Beutler Lab

Gene Symbol

Fer1l4

Ensembl Gene

ENSMUSG00000013338

Gene Name

fer-1 like family member 4

Synonyms

9130402C12Rik

MMRRC Submission

041044-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4224 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155861059-155894867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 155862309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 1788 (V1788G)

Ref Sequence

ENSEMBL: ENSMUSP00000105240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006035] [ENSMUST00000088650] [ENSMUST00000109611]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000006035

SMART Domains

Protein: ENSMUSP00000006035
Gene: ENSMUSG00000005881

Domain	Start	End	E-Value	Type
Pfam:ERGIC_N	6	101	2.2e-38	PFAM
Pfam:COPIIcoated_ERV	145	363	6.2e-86	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000088650

SMART Domains

Protein: ENSMUSP00000086025
Gene: ENSMUSG00000005881

Domain	Start	End	E-Value	Type
Pfam:ERGIC_N	7	97	9e-35	PFAM
Pfam:COPIIcoated_ERV	145	374	7e-94	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109611
AA Change: V1788G

PolyPhen 2 Score 0.367 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338
AA Change: V1788G

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

noncoding transcript
Transcript: ENSMUST00000130793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137545

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138297

Predicted Effect

probably benign
Transcript: ENSMUST00000142859

SMART Domains

Protein: ENSMUSP00000115912
Gene: ENSMUSG00000005881

Domain	Start	End	E-Value	Type
Pfam:COPIIcoated_ERV	74	246	1.9e-67	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150970

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152568

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149381

Predicted Effect

probably benign
Transcript: ENSMUST00000155370

SMART Domains

Protein: ENSMUSP00000119051
Gene: ENSMUSG00000005881

Domain	Start	End	E-Value	Type
Pfam:COPIIcoated_ERV	21	235	1e-95	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182O14Rik	T	C	15: 40,005,672 (GRCm39)		probably null	Het
Abl2	A	G	1: 156,461,417 (GRCm39)	T440A	probably damaging	Het
Acat2	T	C	17: 13,181,772 (GRCm39)		probably benign	Het
Acsbg1	C	T	9: 54,523,325 (GRCm39)	R434H	possibly damaging	Het
Aif1l	A	T	2: 31,852,251 (GRCm39)	S40C	probably damaging	Het
Atosa	T	A	9: 74,916,008 (GRCm39)	N209K	probably damaging	Het
Atp6v1a	C	A	16: 43,922,174 (GRCm39)	A355S	probably damaging	Het
Corin	T	C	5: 72,500,451 (GRCm39)	E391G	probably damaging	Het
Dnah11	T	G	12: 118,094,627 (GRCm39)	S814R	probably benign	Het
Gm7964	T	G	7: 83,406,030 (GRCm39)	N281K	probably damaging	Het
Grin1	T	C	2: 25,187,332 (GRCm39)		probably benign	Het
Ica1	T	C	6: 8,659,960 (GRCm39)	K112R	probably benign	Het
Itpr3	T	C	17: 27,326,232 (GRCm39)	V1334A	probably damaging	Het
Khdc3	C	G	9: 73,010,153 (GRCm39)	H70D	possibly damaging	Het
Lama3	T	C	18: 12,583,460 (GRCm39)	C683R	probably damaging	Het
Mettl21a	G	T	1: 64,647,115 (GRCm39)	Y147*	probably null	Het
Mr1	A	T	1: 155,006,465 (GRCm39)	I294N	possibly damaging	Het
Or52z12	A	G	7: 103,233,966 (GRCm39)	T246A	probably damaging	Het
Or7e170	T	A	9: 19,794,896 (GRCm39)	Y235F	probably benign	Het
Pals1	A	G	12: 78,876,492 (GRCm39)	K479E	probably damaging	Het
Pcdhgb7	T	A	18: 37,886,856 (GRCm39)	D675E	probably benign	Het
Polr1has	T	C	17: 37,269,617 (GRCm39)		probably benign	Het
Ptbp1	T	C	10: 79,695,047 (GRCm39)	I125T	probably benign	Het
Rnf213	C	T	11: 119,327,649 (GRCm39)	R1879*	probably null	Het
Slc8a1	A	G	17: 81,956,781 (GRCm39)	F86L	probably damaging	Het
Spdya	G	A	17: 71,869,519 (GRCm39)	V105I	probably benign	Het
Sspo	G	T	6: 48,428,091 (GRCm39)	V313L	possibly damaging	Het
Stard9	A	G	2: 120,495,472 (GRCm39)	T116A	possibly damaging	Het
Tnnt1	T	C	7: 4,513,006 (GRCm39)	H92R	probably damaging	Het
Trim37	T	A	11: 87,107,289 (GRCm39)	C907S	probably damaging	Het
Trim43b	T	A	9: 88,972,692 (GRCm39)	Q154L	probably benign	Het
Tssk3	T	C	4: 129,384,392 (GRCm39)	D3G	probably benign	Het
Ubash3a	T	C	17: 31,456,902 (GRCm39)	Y521H	probably damaging	Het
Vmn1r73	T	C	7: 11,490,506 (GRCm39)	I108T	probably damaging	Het
Vmn2r14	A	G	5: 109,364,149 (GRCm39)	M589T	probably benign	Het
Vmn2r60	A	T	7: 41,765,952 (GRCm39)	T20S	probably benign	Het
Vps13b	A	G	15: 35,876,565 (GRCm39)	T2799A	probably damaging	Het
Zcchc18	A	T	X: 135,895,415 (GRCm39)	N10I	probably damaging	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
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'- CTGACTAGGTATAAGCCTGGGC -3'
(R):5'- TGATACCCATCTTGCCCTGG -3'

Sequencing Primer
(F):5'- CTGGGCTCTGAAATCAACAGGATTC -3'
(R):5'- CCAGCTGGGTAAAGGGTCTG -3'

Posted On

2015-06-12