Mutagenetix > Incidental Mutation

Incidental Mutation 'R4416:Elfn1'

326834

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

041137-MU

Accession Numbers

Essential gene?

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

Stock #

R4416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139893698-139960477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 139957949 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 318 (S318P)

Ref Sequence

ENSEMBL: ENSMUSP00000053869 (fasta)

Gene Model

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

AlphaFold

Q8C8T7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050519
AA Change: S318P

PolyPhen 2 Score 0.519 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000053869
Gene: ENSMUSG00000048988
AA Change: S318P

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	A	15: 59,888,272 (GRCm39)	E56V	possibly damaging	Het
Adam28	A	G	14: 68,859,531 (GRCm39)		probably null	Het
Bnc1	G	T	7: 81,618,708 (GRCm39)	H786N	probably benign	Het
Cav1	T	A	6: 17,339,248 (GRCm39)	M100K	probably benign	Het
Cdk9	A	G	2: 32,598,084 (GRCm39)	L273P	probably damaging	Het
Celsr1	A	G	15: 85,812,200 (GRCm39)	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,026,703 (GRCm39)	Q484R	probably benign	Het
Fbxl6	T	C	15: 76,421,924 (GRCm39)	E205G	possibly damaging	Het
Fhip2a	G	T	19: 57,373,829 (GRCm39)		probably null	Het
Frmd6	T	A	12: 70,924,023 (GRCm39)	Y94N	probably benign	Het
Gdpd1	A	T	11: 86,926,114 (GRCm39)	V277D	probably benign	Het
Grik1	C	A	16: 87,848,349 (GRCm39)	V140L	probably benign	Het
Grpel1	A	G	5: 36,628,616 (GRCm39)	H175R	probably damaging	Het
Gtdc1	G	T	2: 44,465,602 (GRCm39)		probably null	Het
Hivep2	A	T	10: 14,004,914 (GRCm39)	Q504L	probably benign	Het
Icos	A	T	1: 61,033,849 (GRCm39)	I160L	probably benign	Het
Igsf9b	G	T	9: 27,234,213 (GRCm39)	C442F	probably damaging	Het
Itga10	T	C	3: 96,565,562 (GRCm39)	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,553,679 (GRCm39)	V386I	unknown	Het
Lrp2	G	T	2: 69,357,575 (GRCm39)	F409L	probably benign	Het
Nadk	T	G	4: 155,672,183 (GRCm39)	Y291*	probably null	Het
Nudt6	A	T	3: 37,459,378 (GRCm39)		probably null	Het
Oit3	T	C	10: 59,263,925 (GRCm39)	Y403C	probably damaging	Het
Or2ag1b	G	A	7: 106,288,218 (GRCm39)	T240I	probably benign	Het
Or6c70	T	C	10: 129,709,826 (GRCm39)	T267A	probably benign	Het
Or8d6	A	G	9: 39,853,724 (GRCm39)	H56R	probably damaging	Het
Pasd1	G	A	X: 70,983,225 (GRCm39)	C399Y	possibly damaging	Het
Pds5b	C	T	5: 150,659,861 (GRCm39)	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,029,019 (GRCm39)	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,515,679 (GRCm39)	V784A	probably damaging	Het
Polr3e	T	C	7: 120,538,280 (GRCm39)		probably null	Het
Rab3gap2	A	T	1: 185,014,544 (GRCm39)	D1231V	probably benign	Het
Rapgef2	C	A	3: 78,976,364 (GRCm39)	G1481*	probably null	Het
Rho	G	A	6: 115,912,191 (GRCm39)	V76I	probably benign	Het
Rrm1	A	G	7: 102,097,008 (GRCm39)	D96G	probably benign	Het
Slc35b2	G	A	17: 45,877,355 (GRCm39)	V161M	probably benign	Het
Spmip6	T	C	4: 41,505,574 (GRCm39)	T183A	possibly damaging	Het
Srp9	A	T	1: 181,958,976 (GRCm39)	M50L	probably benign	Het
Stox1	T	C	10: 62,495,348 (GRCm39)	N975S	probably benign	Het
Sult1d1	A	G	5: 87,706,435 (GRCm39)	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,128,676 (GRCm39)	T567R	probably benign	Het
Tmf1	G	T	6: 97,155,949 (GRCm39)	F12L	probably damaging	Het
Ush2a	T	C	1: 188,089,071 (GRCm39)	I342T	probably damaging	Het
Veph1	A	T	3: 65,968,606 (GRCm39)	N712K	probably damaging	Het
Vti1a	T	G	19: 55,369,380 (GRCm39)	S91A	probably benign	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
R3898:Elfn1	UTSW	5	139,957,719 (GRCm39)	missense	probably damaging	1.00
R3900:Elfn1	UTSW	5	139,957,719 (GRCm39)	missense	probably damaging	1.00
R4284:Elfn1	UTSW	5	139,958,069 (GRCm39)	nonsense	probably null
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'- CAAGCTTCAGTCTGTGTGCAC -3'
(R):5'- ACCACGCAGTATGTGTAGTTG -3'

Sequencing Primer
(F):5'- CCTACACTGCTGAGGTGCTTG -3'
(R):5'- CACGCAGTATGTGTAGTTGGTGAG -3'

Posted On

2015-07-07