Mutagenetix > Incidental Mutation

Incidental Mutation 'R0884:Fer1l4'

81015

Institutional Source

Beutler Lab

Gene Symbol

Fer1l4

Ensembl Gene

ENSMUSG00000013338

Gene Name

fer-1 like family member 4

Synonyms

9130402C12Rik

MMRRC Submission

039051-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0884 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155861059-155894867 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155861233 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1978 (T1978A)

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

possibly damaging
Transcript: ENSMUST00000109611
AA Change: T1978A

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105240
Gene: ENSMUSG00000013338
AA Change: T1978A

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	A	T	14: 118,790,700 (GRCm39)	I844N	possibly damaging	Het
Acbd3	CGAGGAGGAGGAGGAGGA	CGAGGAGGAGGAGGA	1: 180,574,624 (GRCm39)		probably benign	Het
Adam6b	A	T	12: 113,454,615 (GRCm39)	R477S	probably damaging	Het
Aqp7	T	A	4: 41,034,929 (GRCm39)	T175S	possibly damaging	Het
Bclaf1	A	T	10: 20,197,822 (GRCm39)	R22*	probably null	Het
Bend7	A	T	2: 4,749,055 (GRCm39)	K57N	probably damaging	Het
Bicc1	A	C	10: 70,794,677 (GRCm39)	V160G	probably damaging	Het
Cacna2d4	C	T	6: 119,284,247 (GRCm39)	R745W	probably damaging	Het
Cep72	A	G	13: 74,203,000 (GRCm39)		probably null	Het
Cobl	A	G	11: 12,325,908 (GRCm39)	I196T	possibly damaging	Het
Cux1	T	G	5: 136,336,689 (GRCm39)	D941A	probably damaging	Het
Cyp2a12	T	C	7: 26,731,967 (GRCm39)	I236T	probably benign	Het
Dennd2b	A	G	7: 109,156,552 (GRCm39)	L66P	probably damaging	Het
Depdc5	T	A	5: 33,075,322 (GRCm39)	V500D	possibly damaging	Het
Dhx35	T	C	2: 158,673,631 (GRCm39)	I354T	probably damaging	Het
Dnase1l2	A	G	17: 24,660,854 (GRCm39)	V170A	possibly damaging	Het
Eif4g3	C	A	4: 137,879,087 (GRCm39)	N588K	possibly damaging	Het
Epsti1	A	T	14: 78,168,715 (GRCm39)	R117S	probably damaging	Het
Fam53a	T	C	5: 33,758,160 (GRCm39)	E321G	probably benign	Het
Fat4	C	A	3: 39,037,007 (GRCm39)	T3553K	possibly damaging	Het
Gabarapl2	A	T	8: 112,669,137 (GRCm39)	I32F	probably damaging	Het
Gje1	G	T	10: 14,592,484 (GRCm39)	S99R	possibly damaging	Het
Gosr1	A	G	11: 76,620,972 (GRCm39)	I239T	probably benign	Het
Gpnmb	T	C	6: 49,024,847 (GRCm39)	V293A	possibly damaging	Het
Hyi	T	A	4: 118,217,414 (GRCm39)	I62N	probably damaging	Het
Il4ra	A	G	7: 125,173,835 (GRCm39)	I267V	probably damaging	Het
Kcnd2	A	T	6: 21,216,540 (GRCm39)	Q81H	probably benign	Het
Ksr1	A	T	11: 78,912,329 (GRCm39)	H675Q	possibly damaging	Het
Lpcat4	A	G	2: 112,073,077 (GRCm39)	N208S	probably damaging	Het
Muc17	T	A	5: 137,171,146 (GRCm39)	T162S	possibly damaging	Het
Mup3	T	A	4: 62,005,411 (GRCm39)	I20F	possibly damaging	Het
Nebl	A	C	2: 17,415,929 (GRCm39)	S327A	probably benign	Het
Nfatc4	A	C	14: 56,064,101 (GRCm39)	D126A	probably damaging	Het
Nmt2	A	T	2: 3,315,822 (GRCm39)	R271*	probably null	Het
Nol7	G	A	13: 43,554,091 (GRCm39)	V133I	probably benign	Het
Or1e1c	A	T	11: 73,265,715 (GRCm39)	I47F	probably benign	Het
Or51ag1	C	T	7: 103,156,069 (GRCm39)	W28*	probably null	Het
Pde4d	A	T	13: 110,087,474 (GRCm39)	I670L	probably damaging	Het
Phlpp1	T	A	1: 106,317,395 (GRCm39)		probably null	Het
Pigz	A	G	16: 31,760,794 (GRCm39)		probably null	Het
Pramel21	A	G	4: 143,341,754 (GRCm39)	D61G	probably benign	Het
Prrg4	A	T	2: 104,669,707 (GRCm39)	Y137N	probably damaging	Het
Rbm28	A	T	6: 29,155,153 (GRCm39)	S217T	possibly damaging	Het
Ryr2	T	C	13: 11,569,415 (GRCm39)	D4963G	probably damaging	Het
Slc35b2	T	A	17: 45,877,751 (GRCm39)	F293I	probably damaging	Het
Slc35f1	A	T	10: 52,965,443 (GRCm39)	Y286F	probably damaging	Het
Slc6a18	G	T	13: 73,815,156 (GRCm39)	A384D	probably damaging	Het
Syt9	A	G	7: 107,035,768 (GRCm39)	I262V	probably damaging	Het
Tln2	C	A	9: 67,278,015 (GRCm39)	R333L	probably damaging	Het
Tnrc6b	ACAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAG	15: 80,786,756 (GRCm39)		probably benign	Het
Ttn	G	A	2: 76,581,410 (GRCm39)	T14834I	possibly damaging	Het
Uggt1	T	C	1: 36,214,159 (GRCm39)	S177G	probably benign	Het
Zfp454	A	G	11: 50,764,764 (GRCm39)	S223P	probably benign	Het
Zmat4	A	G	8: 24,505,143 (GRCm39)	T128A	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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGAACCCAAGGACTGAGCCCTTC -3'
(R):5'- CACAGTGCGTAGCCCATAATGACC -3'

Sequencing Primer
(F):5'- TTCCAGGGCACATTGCAAG -3'
(R):5'- CCATAATGACCAGGGGCTG -3'

Posted On

2013-11-07