Mutagenetix > Incidental Mutation

Incidental Mutation 'R6463:Elfn1'

517680

Institutional Source

Beutler Lab

Gene Symbol

Elfn1

Ensembl Gene

ENSMUSG00000048988

Gene Name

leucine rich repeat and fibronectin type III, extracellular 1

Synonyms

MMRRC Submission

045324-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R6463 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139907943-139974722 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139972285 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 348 (Y348C)

Ref Sequence

ENSEMBL: ENSMUSP00000053869 (fasta)

Gene Model

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

AlphaFold

Q8C8T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000050519
AA Change: Y348C

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

SMART Domains

Protein: ENSMUSP00000053869
Gene: ENSMUSG00000048988
AA Change: Y348C

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

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.4%

Validation Efficiency

100% (51/51)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	T	4: 39,450,938 (GRCm38)	H48L	probably damaging	Het
Aifm3	A	G	16: 17,500,789 (GRCm38)	I185V	probably benign	Het
Asb7	A	T	7: 66,660,236 (GRCm38)	D77E	probably damaging	Het
Cacna1i	T	C	15: 80,355,758 (GRCm38)	I336T	probably damaging	Het
Cadps2	A	T	6: 23,323,334 (GRCm38)	L1016*	probably null	Het
Ccdc129	A	G	6: 55,968,678 (GRCm38)	R795G	probably benign	Het
Cep63	C	A	9: 102,596,155 (GRCm38)	M504I	probably benign	Het
Chpf2	G	T	5: 24,589,526 (GRCm38)	L231F	probably damaging	Het
Cnot10	T	C	9: 114,625,902 (GRCm38)	Y221C	probably damaging	Het
Col3a1	G	A	1: 45,342,205 (GRCm38)		probably benign	Het
Csl	T	C	10: 99,759,098 (GRCm38)	D35G	probably damaging	Het
Csmd3	T	C	15: 47,676,479 (GRCm38)	Y2286C	probably damaging	Het
Dbt	A	G	3: 116,539,760 (GRCm38)	E293G	possibly damaging	Het
Ddx31	T	A	2: 28,847,513 (GRCm38)		probably null	Het
Dnm1	T	C	2: 32,309,591 (GRCm38)		probably benign	Het
Enpp5	G	A	17: 44,085,264 (GRCm38)	G356S	probably damaging	Het
Epha5	T	A	5: 84,106,710 (GRCm38)	I657F	probably damaging	Het
Fbp1	A	G	13: 62,865,010 (GRCm38)	F123S	possibly damaging	Het
Hkdc1	T	C	10: 62,393,702 (GRCm38)	N732S	probably damaging	Het
Itfg1	A	G	8: 85,736,151 (GRCm38)	S448P	probably benign	Het
Izumo2	A	G	7: 44,709,074 (GRCm38)	K84R	probably benign	Het
Kbtbd3	A	G	9: 4,316,921 (GRCm38)	Y24C	probably benign	Het
Kif1b	T	C	4: 149,192,596 (GRCm38)	M1337V	probably benign	Het
Mdn1	T	C	4: 32,773,308 (GRCm38)	L5489P	probably damaging	Het
Mettl2	G	A	11: 105,132,581 (GRCm38)		probably null	Het
Mtr	T	C	13: 12,216,866 (GRCm38)	T651A	probably benign	Het
Naglu	A	G	11: 101,077,351 (GRCm38)		probably null	Het
Nkx6-1	G	T	5: 101,659,476 (GRCm38)	H347N	probably damaging	Het
Ntpcr	A	G	8: 125,736,104 (GRCm38)	E20G	probably benign	Het
Oas2	T	C	5: 120,734,981 (GRCm38)	R670G	probably null	Het
Olfr1208	T	C	2: 88,897,118 (GRCm38)	I160V	probably benign	Het
Olfr239	G	A	17: 33,199,638 (GRCm38)	V197I	probably benign	Het
Olfr698	C	G	7: 106,752,801 (GRCm38)	E196Q	probably benign	Het
Phldb2	A	C	16: 45,774,993 (GRCm38)	V902G	probably benign	Het
Rdh7	T	C	10: 127,885,781 (GRCm38)	R209G	probably benign	Het
Slc13a3	A	C	2: 165,445,653 (GRCm38)	L127R	probably damaging	Het
Slc6a20b	T	A	9: 123,604,949 (GRCm38)	I275F	possibly damaging	Het
St3gal1	A	G	15: 67,111,346 (GRCm38)	V187A	possibly damaging	Het
Tmx4	T	C	2: 134,620,639 (GRCm38)	Y124C	probably damaging	Het
Trh	A	T	6: 92,242,843 (GRCm38)	M164K	possibly damaging	Het
Trhr	A	G	15: 44,197,585 (GRCm38)	N167S	probably benign	Het
Ttll7	G	A	3: 146,931,582 (GRCm38)	R490Q	possibly damaging	Het
Uck1	T	C	2: 32,258,655 (GRCm38)	N100S	probably benign	Het
Ucp3	A	T	7: 100,480,269 (GRCm38)	T104S	probably benign	Het
Vmn2r28	T	A	7: 5,486,436 (GRCm38)	H468L	probably benign	Het
Xaf1	G	A	11: 72,308,638 (GRCm38)	R67H	probably benign	Het
Ypel4	T	C	2: 84,736,743 (GRCm38)		probably benign	Het
Zfp687	A	G	3: 95,010,784 (GRCm38)	I559T	probably damaging	Het

Other mutations in Elfn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1969:Elfn1	UTSW	5	139,972,849 (GRCm38)	missense	probably damaging	1.00
R2010:Elfn1	UTSW	5	139,973,316 (GRCm38)	missense	probably damaging	1.00
R3702:Elfn1	UTSW	5	139,972,359 (GRCm38)	missense	probably benign
R3898:Elfn1	UTSW	5	139,971,964 (GRCm38)	missense	probably damaging	1.00
R3900:Elfn1	UTSW	5	139,971,964 (GRCm38)	missense	probably damaging	1.00
R4284:Elfn1	UTSW	5	139,972,314 (GRCm38)	nonsense	probably null
R4416:Elfn1	UTSW	5	139,972,194 (GRCm38)	missense	possibly damaging	0.52
R4575:Elfn1	UTSW	5	139,972,053 (GRCm38)	missense	probably benign
R4576:Elfn1	UTSW	5	139,972,053 (GRCm38)	missense	probably benign
R4578:Elfn1	UTSW	5	139,972,053 (GRCm38)	missense	probably benign
R4617:Elfn1	UTSW	5	139,972,009 (GRCm38)	missense	probably damaging	0.99
R4729:Elfn1	UTSW	5	139,973,658 (GRCm38)	missense	probably damaging	1.00
R4857:Elfn1	UTSW	5	139,973,085 (GRCm38)	missense	probably damaging	1.00
R5431:Elfn1	UTSW	5	139,971,568 (GRCm38)	missense	probably damaging	0.99
R5456:Elfn1	UTSW	5	139,972,816 (GRCm38)	missense	probably damaging	1.00
R6841:Elfn1	UTSW	5	139,973,145 (GRCm38)	missense	probably damaging	1.00
R6925:Elfn1	UTSW	5	139,971,685 (GRCm38)	missense	probably benign	0.02
R7224:Elfn1	UTSW	5	139,972,473 (GRCm38)	missense	probably benign	0.00
R7465:Elfn1	UTSW	5	139,972,087 (GRCm38)	missense	probably benign	0.34
R8171:Elfn1	UTSW	5	139,971,357 (GRCm38)	missense	probably damaging	1.00
R8354:Elfn1	UTSW	5	139,971,471 (GRCm38)	missense	probably damaging	0.99
R8454:Elfn1	UTSW	5	139,971,471 (GRCm38)	missense	probably damaging	0.99
R9381:Elfn1	UTSW	5	139,973,707 (GRCm38)	missense	probably damaging	1.00
R9655:Elfn1	UTSW	5	139,973,209 (GRCm38)	missense	possibly damaging	0.58
V7732:Elfn1	UTSW	5	139,971,439 (GRCm38)	missense	probably damaging	1.00
Z1177:Elfn1	UTSW	5	139,972,308 (GRCm38)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- TGATGACGAGTGCTTCTCCG -3'
(R):5'- AGCCCAGGATGGTCATGATG -3'

Sequencing Primer
(F):5'- ACGAGTGCTTCTCCGGAGATG -3'
(R):5'- CCCAGGATGGTCATGATGTAGTG -3'

Posted On

2018-05-21