Mutagenetix > Incidental Mutation

Incidental Mutation 'R3898:Elfn1'

309048

Institutional Source

Beutler Lab

Gene Symbol

Elfn1

Ensembl Gene

ENSMUSG00000048988

Gene Name

leucine rich repeat and fibronectin type III, extracellular 1

Synonyms

A930017N06Rik

MMRRC Submission

040906-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.121) question?

Stock #

R3898 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139893698-139960477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 139957719 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 241 (R241H)

Ref Sequence

ENSEMBL: ENSMUSP00000053869 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050519]

AlphaFold

Q8C8T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000050519
AA Change: R241H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053869
Gene: ENSMUSG00000048988
AA Change: R241H

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
LRR	83	106	3.24e0	SMART
LRR	109	130	9.22e0	SMART
LRR	131	154	4.2e0	SMART
LRR	155	178	6.78e1	SMART
LRRCT	190	240	4.49e-4	SMART
low complexity region	268	288	N/A	INTRINSIC
low complexity region	300	313	N/A	INTRINSIC
Blast:FN3	314	389	1e-27	BLAST
low complexity region	400	413	N/A	INTRINSIC
transmembrane domain	418	440	N/A	INTRINSIC
low complexity region	441	463	N/A	INTRINSIC
low complexity region	632	652	N/A	INTRINSIC
low complexity region	713	724	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198608

Meta Mutation Damage Score

0.1157

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous mutants display impaired coordination, hyperactivity, lower anxiety-related response, and increased susceptibility to induced seizures. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg1	A	C	16: 5,054,253 (GRCm39)	I154L	possibly damaging	Het
Ankra2	C	T	13: 98,410,317 (GRCm39)	L136F	probably benign	Het
Anpep	A	G	7: 79,488,973 (GRCm39)	S372P	probably benign	Het
Cabyr	T	C	18: 12,884,580 (GRCm39)	S356P	probably benign	Het
Cad	G	T	5: 31,231,366 (GRCm39)	C1633F	probably benign	Het
Cadps2	G	A	6: 23,528,125 (GRCm39)	R425W	probably damaging	Het
Ccdc180	A	G	4: 45,912,799 (GRCm39)	K593E	possibly damaging	Het
Cdh8	T	A	8: 99,898,005 (GRCm39)	E436V	probably damaging	Het
Cfap95	A	G	19: 23,570,466 (GRCm39)	V101A	probably benign	Het
Cln6	T	G	9: 62,757,934 (GRCm39)	F231C	probably damaging	Het
Cul2	A	G	18: 3,434,033 (GRCm39)	K677E	probably benign	Het
Cyp2c69	T	C	19: 39,864,834 (GRCm39)	I215V	probably benign	Het
Dhx36	T	C	3: 62,399,790 (GRCm39)	D393G	probably damaging	Het
Dnah7b	T	C	1: 46,282,417 (GRCm39)	V2850A	probably damaging	Het
Dnah8	G	A	17: 31,073,872 (GRCm39)	R4514H	probably damaging	Het
Drg2	T	A	11: 60,347,460 (GRCm39)	S50T	probably benign	Het
Ecscr	A	G	18: 35,846,705 (GRCm39)	S230P	possibly damaging	Het
Eif2ak4	T	C	2: 118,261,404 (GRCm39)	V527A	probably damaging	Het
Fchsd2	A	G	7: 100,841,006 (GRCm39)	K172E	possibly damaging	Het
Fli1	C	T	9: 32,388,018 (GRCm39)	G24R	possibly damaging	Het
Frmd3	A	G	4: 73,992,346 (GRCm39)	D71G	probably damaging	Het
Ggnbp1	A	G	17: 27,244,312 (GRCm39)		probably benign	Het
Gpat2	T	C	2: 127,277,018 (GRCm39)	F713S	probably damaging	Het
H2-Q2	C	T	17: 35,561,743 (GRCm39)	P78S	probably damaging	Het
Kcnq2	C	T	2: 180,751,479 (GRCm39)	A306T	probably damaging	Het
Lmntd1	G	A	6: 145,359,152 (GRCm39)	P333S	probably benign	Het
Lrp1	G	A	10: 127,427,969 (GRCm39)	R535*	probably null	Het
Mmrn2	G	T	14: 34,121,517 (GRCm39)		probably null	Het
Nlrp1a	G	A	11: 71,013,700 (GRCm39)	P517S	probably benign	Het
Or2y13	A	T	11: 49,415,386 (GRCm39)	I279F	probably damaging	Het
Pou4f1	T	C	14: 104,703,165 (GRCm39)	*422W	probably null	Het
Ptpn14	C	T	1: 189,582,728 (GRCm39)	P525L	probably benign	Het
Pyroxd2	C	A	19: 42,728,831 (GRCm39)	G190C	probably damaging	Het
Rd3	T	C	1: 191,717,217 (GRCm39)	V114A	probably damaging	Het
Sptbn5	T	C	2: 119,887,691 (GRCm39)		noncoding transcript	Het
Tbc1d5	A	T	17: 51,270,772 (GRCm39)	F153Y	probably damaging	Het
Thop1	G	A	10: 80,916,278 (GRCm39)	G429S	probably damaging	Het
Trim30d	T	A	7: 104,132,736 (GRCm39)	I184L	probably benign	Het
Ubr5	T	C	15: 37,997,983 (GRCm39)	S1727G	probably benign	Het
Vezf1	T	C	11: 87,966,999 (GRCm39)	F77L	probably benign	Het
Vmn2r12	C	T	5: 109,238,370 (GRCm39)	A457T	probably benign	Het
Xirp1	A	T	9: 119,848,406 (GRCm39)	M159K	probably benign	Het
Zkscan17	C	T	11: 59,394,263 (GRCm39)	A113T	probably damaging	Het
Zyg11a	T	A	4: 108,067,391 (GRCm39)	N40Y	probably damaging	Het

Other mutations in Elfn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1969:Elfn1	UTSW	5	139,958,604 (GRCm39)	missense	probably damaging	1.00
R2010:Elfn1	UTSW	5	139,959,071 (GRCm39)	missense	probably damaging	1.00
R3702:Elfn1	UTSW	5	139,958,114 (GRCm39)	missense	probably benign
R3900:Elfn1	UTSW	5	139,957,719 (GRCm39)	missense	probably damaging	1.00
R4284:Elfn1	UTSW	5	139,958,069 (GRCm39)	nonsense	probably null
R4416:Elfn1	UTSW	5	139,957,949 (GRCm39)	missense	possibly damaging	0.52
R4575:Elfn1	UTSW	5	139,957,808 (GRCm39)	missense	probably benign
R4576:Elfn1	UTSW	5	139,957,808 (GRCm39)	missense	probably benign
R4578:Elfn1	UTSW	5	139,957,808 (GRCm39)	missense	probably benign
R4617:Elfn1	UTSW	5	139,957,764 (GRCm39)	missense	probably damaging	0.99
R4729:Elfn1	UTSW	5	139,959,413 (GRCm39)	missense	probably damaging	1.00
R4857:Elfn1	UTSW	5	139,958,840 (GRCm39)	missense	probably damaging	1.00
R5431:Elfn1	UTSW	5	139,957,323 (GRCm39)	missense	probably damaging	0.99
R5456:Elfn1	UTSW	5	139,958,571 (GRCm39)	missense	probably damaging	1.00
R6463:Elfn1	UTSW	5	139,958,040 (GRCm39)	missense	probably damaging	1.00
R6841:Elfn1	UTSW	5	139,958,900 (GRCm39)	missense	probably damaging	1.00
R6925:Elfn1	UTSW	5	139,957,440 (GRCm39)	missense	probably benign	0.02
R7224:Elfn1	UTSW	5	139,958,228 (GRCm39)	missense	probably benign	0.00
R7465:Elfn1	UTSW	5	139,957,842 (GRCm39)	missense	probably benign	0.34
R8171:Elfn1	UTSW	5	139,957,112 (GRCm39)	missense	probably damaging	1.00
R8354:Elfn1	UTSW	5	139,957,226 (GRCm39)	missense	probably damaging	0.99
R8454:Elfn1	UTSW	5	139,957,226 (GRCm39)	missense	probably damaging	0.99
R9381:Elfn1	UTSW	5	139,959,462 (GRCm39)	missense	probably damaging	1.00
R9655:Elfn1	UTSW	5	139,958,964 (GRCm39)	missense	possibly damaging	0.58
V7732:Elfn1	UTSW	5	139,957,194 (GRCm39)	missense	probably damaging	1.00
Z1177:Elfn1	UTSW	5	139,958,063 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- GATCTCTCCATGAATCGCATCC -3'
(R):5'- GGAGAAGCACTCGTCATCAG -3'

Sequencing Primer
(F):5'- TGAATCGCATCCAGCAGCTG -3'
(R):5'- ACTCGTCATCAGCGCAG -3'

Posted On

2015-04-17