Mutagenetix > Incidental Mutations

Incidental Mutation 'R7225:Fer1l5'

562072

Institutional Source

Beutler Lab

Gene Symbol

Fer1l5

Ensembl Gene

ENSMUSG00000037432

Gene Name

fer-1-like 5 (C. elegans)

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R7225 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36372291-36422110 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36420952 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 1893 (W1893R)

Ref Sequence

ENSEMBL: ENSMUSP00000142130 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001171] [ENSMUST00000115011] [ENSMUST00000125304] [ENSMUST00000140452] [ENSMUST00000179162]

AlphaFold

P0DM40

Predicted Effect

probably benign
Transcript: ENSMUST00000001171

SMART Domains

Protein: ENSMUSP00000137028
Gene: ENSMUSG00000001143

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Lectin_leg-like	48	146	1.5e-34	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115011

SMART Domains

Protein: ENSMUSP00000110663
Gene: ENSMUSG00000001143

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Lectin_leg-like	48	286	2e-84	PFAM
transmembrane domain	324	346	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125304

SMART Domains

Protein: ENSMUSP00000117200
Gene: ENSMUSG00000001143

Domain	Start	End	E-Value	Type
signal peptide	1	33	N/A	INTRINSIC
Pfam:Lectin_leg-like	48	275	3.2e-88	PFAM
transmembrane domain	313	335	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140452

SMART Domains

Protein: ENSMUSP00000144430
Gene: ENSMUSG00000037432

Domain	Start	End	E-Value	Type
Pfam:C2	1	78	1.4e-5	PFAM
Blast:C2	148	209	3e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000152088

SMART Domains

Protein: ENSMUSP00000119798
Gene: ENSMUSG00000001143

Domain	Start	End	E-Value	Type
Pfam:Lectin_leg-like	1	76	1.3e-22	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000179162
AA Change: W1893R

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000142130
Gene: ENSMUSG00000037432
AA Change: W1893R

Domain	Start	End	E-Value	Type
C2	1	98	2.74e-4	SMART
C2	168	264	4.29e-6	SMART
FerI	250	323	1.59e-19	SMART
C2	325	422	1.06e-5	SMART
FerA	602	669	6.26e-18	SMART
FerB	691	764	1.38e-37	SMART
internal_repeat_1	781	836	1.77e-5	PROSPERO
internal_repeat_1	852	904	1.77e-5	PROSPERO
DysFC	913	951	1.61e-3	SMART
DysFC	981	1013	4.81e-2	SMART
C2	1078	1222	1.56e0	SMART
Pfam:C2	1248	1329	1e-1	PFAM
low complexity region	1376	1387	N/A	INTRINSIC
low complexity region	1459	1470	N/A	INTRINSIC
C2	1487	1586	2.21e-8	SMART
C2	1659	1851	5.32e-2	SMART
transmembrane domain	1964	1986	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000192969

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	T	C	12: 110,670,865		probably benign	Het
5430403G16Rik	T	C	5: 109,677,149	H145R	possibly damaging	Het
5730480H06Rik	T	A	5: 48,380,233		probably null	Het
Actn4	A	T	7: 28,898,699	V492D	probably damaging	Het
Alpk2	T	C	18: 65,305,199	E1041G	probably benign	Het
Asap1	G	A	15: 64,130,250	T404M	probably damaging	Het
Cd22	C	T	7: 30,877,634	A83T	not run	Het
Cdan1	T	C	2: 120,724,912	T783A	probably benign	Het
Cdh9	C	T	15: 16,856,073	S733F	probably damaging	Het
Cfap54	A	G	10: 92,904,374	F2282S	unknown	Het
Chst9	T	C	18: 15,452,661	K282E	probably damaging	Het
Clcn1	G	A	6: 42,293,462	D232N	probably damaging	Het
Clpb	T	A	7: 101,711,465	L234Q	probably damaging	Het
Cluh	T	G	11: 74,666,406		probably null	Het
Cnp	C	T	11: 100,580,587	Q352*	probably null	Het
Cyfip1	AGTGT	AGT	7: 55,928,189		probably null	Het
Dtx3	C	T	10: 127,191,489	C272Y	probably damaging	Het
Dync2h1	A	G	9: 7,142,756	I1156T	probably benign	Het
Epg5	T	A	18: 78,012,702	V1697E	probably benign	Het
Exoc3l4	A	G	12: 111,423,624	D211G	probably benign	Het
Fank1	A	G	7: 133,853,259	K36R	probably benign	Het
Fat4	T	C	3: 38,980,176	I2659T	possibly damaging	Het
Gorasp2	T	A	2: 70,684,047	L256Q	probably damaging	Het
Gpc5	T	G	14: 115,552,298	V528G	probably damaging	Het
Gria2	T	A	3: 80,802,631		probably benign	Het
Htatip2	A	G	7: 49,770,856	E150G	possibly damaging	Het
Jak3	C	A	8: 71,685,511	Q869K	probably benign	Het
Jmjd1c	T	C	10: 67,226,065	V1218A	probably benign	Het
Kcnf1	A	G	12: 17,175,693	C176R	possibly damaging	Het
Kcnq4	A	G	4: 120,746,914	V88A	probably benign	Het
Lmod3	T	A	6: 97,247,384	D492V	probably benign	Het
Lurap1l	A	C	4: 80,911,481	S43R	probably benign	Het
Mamdc4	T	C	2: 25,565,546	H890R	possibly damaging	Het
Mertk	T	G	2: 128,801,562	N960K	possibly damaging	Het
Nudt9	C	A	5: 104,065,100	D346E	probably benign	Het
Olfr1434	A	T	19: 12,283,467	T140S	probably benign	Het
Opa1	A	G	16: 29,614,039		probably null	Het
Oxr1	C	T	15: 41,813,608	P187L	not run	Het
Paxbp1	T	C	16: 91,027,068	E564G	probably damaging	Het
Pcdhb13	C	T	18: 37,444,437	R623C	possibly damaging	Het
Pkhd1l1	G	T	15: 44,546,941	V2615F	probably damaging	Het
Plin3	T	C	17: 56,286,541	T58A	possibly damaging	Het
Por	A	G	5: 135,732,587	D309G	probably benign	Het
Ppp2r5e	T	C	12: 75,468,579	K261R	probably damaging	Het
Ptpn18	C	T	1: 34,472,846	T366I	possibly damaging	Het
Ptprz1	G	A	6: 23,000,929	G1006E	possibly damaging	Het
Rnf219	T	C	14: 104,479,858	T360A	probably benign	Het
Rpl12	C	T	2: 32,961,897		probably benign	Het
Rpsa	T	G	9: 120,131,156	F262V	probably benign	Het
Sh3pxd2a	G	T	19: 47,267,389	N991K	probably damaging	Het
Shank2	T	A	7: 144,285,025	N19K	probably benign	Het
Sik1	T	C	17: 31,854,300	T61A	probably benign	Het
Sipa1l3	A	C	7: 29,399,428	V472G	probably damaging	Het
Sirt6	A	G	10: 81,622,481	S313P	probably benign	Het
Slc12a7	A	G	13: 73,763,962		probably benign	Het
Sox13	A	T	1: 133,387,124	V266E	probably benign	Het
Spag9	T	C	11: 94,097,358	C833R	probably damaging	Het
Tcof1	T	C	18: 60,828,448	T812A	unknown	Het
Tnfsf4	A	G	1: 161,417,250	D170G	possibly damaging	Het
Tshz3	A	G	7: 36,769,657	N357S	probably damaging	Het
Txk	C	T	5: 72,700,714	D418N	probably damaging	Het
Ube2j2	A	G	4: 155,949,316		probably null	Het
Vmn2r84	G	A	10: 130,386,683	P556L	probably damaging	Het
Zfp442	T	C	2: 150,409,005	N326D	probably benign	Het

Other mutations in Fer1l5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4151001:Fer1l5	UTSW	1	36411647	missense	probably benign	0.27
R5580:Fer1l5	UTSW	1	36385458	nonsense	probably null
R5848:Fer1l5	UTSW	1	36388935	missense	probably benign	0.39
R5930:Fer1l5	UTSW	1	36385173	nonsense	probably null
R6193:Fer1l5	UTSW	1	36409436	missense	probably benign	0.20
R6195:Fer1l5	UTSW	1	36375286	splice site	probably null
R6207:Fer1l5	UTSW	1	36385160	missense	probably damaging	1.00
R6233:Fer1l5	UTSW	1	36375286	splice site	probably null
R6349:Fer1l5	UTSW	1	36411274	missense	probably damaging	0.96
R6478:Fer1l5	UTSW	1	36402531	missense	probably damaging	1.00
R6514:Fer1l5	UTSW	1	36403616	missense	probably benign	0.01
R6611:Fer1l5	UTSW	1	36406654	missense	probably benign	0.01
R6634:Fer1l5	UTSW	1	36411385	missense	probably damaging	0.99
R6733:Fer1l5	UTSW	1	36408672	critical splice donor site	probably null
R6816:Fer1l5	UTSW	1	36406510	missense	possibly damaging	0.60
R7316:Fer1l5	UTSW	1	36418116	missense	probably benign	0.41
R7455:Fer1l5	UTSW	1	36388983	missense	probably benign	0.00
R7473:Fer1l5	UTSW	1	36421608	missense	possibly damaging	0.53
R7702:Fer1l5	UTSW	1	36420694	nonsense	probably null
R7714:Fer1l5	UTSW	1	36401477	missense	probably damaging	1.00
R7872:Fer1l5	UTSW	1	36421886	missense	probably benign	0.00
R7881:Fer1l5	UTSW	1	36407036	missense	not run
R7984:Fer1l5	UTSW	1	36408621	missense	possibly damaging	0.68
R8326:Fer1l5	UTSW	1	36376760	missense	probably benign	0.04
R8523:Fer1l5	UTSW	1	36387190	missense	probably benign	0.27
R8528:Fer1l5	UTSW	1	36417774	missense	possibly damaging	0.91
R8975:Fer1l5	UTSW	1	36417816	missense	probably benign	0.13
R9011:Fer1l5	UTSW	1	36402520	missense	probably damaging	0.96
R9084:Fer1l5	UTSW	1	36390538	missense	probably benign	0.00
R9180:Fer1l5	UTSW	1	36410918	missense	probably null	1.00
R9312:Fer1l5	UTSW	1	36421167	missense	probably damaging	1.00
Z1176:Fer1l5	UTSW	1	36390563	nonsense	probably null
Z1177:Fer1l5	UTSW	1	36409194	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GCTGGATTTATCAGACATGCCC -3'
(R):5'- GGCCTGATTAGAGCTTCTCTC -3'

Sequencing Primer
(F):5'- ATCAGACATGCCCCTTCCGG -3'
(R):5'- CTCTGATAGCATCTCAAGAGTCATC -3'

Posted On

2019-06-26