Mutagenetix > Incidental Mutation

Incidental Mutation 'R6841:Elfn1'

538024

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

044947-MU

Accession Numbers

Essential gene?

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

Stock #

R6841 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

139893698-139960477 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 139958900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 635 (G635W)

Ref Sequence

ENSEMBL: ENSMUSP00000053869 (fasta)

Gene Model

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

AlphaFold

Q8C8T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000050519
AA Change: G635W

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000053869
Gene: ENSMUSG00000048988
AA Change: G635W

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.4%

Validation Efficiency

99% (71/72)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730071L15Rik	G	A	11: 6,150,439 (GRCm39)	W137*	probably null	Het
Acads	G	A	5: 115,250,417 (GRCm39)	T169I	probably benign	Het
Adgrg7	T	A	16: 56,570,787 (GRCm39)	N414Y	probably damaging	Het
Ankrd35	T	A	3: 96,577,742 (GRCm39)	S6T	probably damaging	Het
Armc3	A	G	2: 19,206,630 (GRCm39)		probably null	Het
Atp9a	C	A	2: 168,496,140 (GRCm39)	V555F	possibly damaging	Het
Bltp1	A	G	3: 37,075,630 (GRCm39)	Y3610C	probably damaging	Het
Cars2	C	T	8: 11,566,198 (GRCm39)	V443I	probably benign	Het
Cblc	A	G	7: 19,526,821 (GRCm39)	L137P	probably damaging	Het
Ccdc198	T	C	14: 49,481,270 (GRCm39)		probably null	Het
Cdk5r1	T	A	11: 80,369,021 (GRCm39)	C229*	probably null	Het
Cep85	C	G	4: 133,883,167 (GRCm39)	A241P	probably benign	Het
Cfap54	T	C	10: 92,710,877 (GRCm39)	Y2728C	unknown	Het
Ckap5	T	A	2: 91,400,597 (GRCm39)	W650R	probably damaging	Het
Cnot11	C	T	1: 39,579,148 (GRCm39)	Q12*	probably null	Het
Commd6	A	T	14: 101,874,534 (GRCm39)	D19E	probably damaging	Het
Crygc	C	T	1: 65,112,361 (GRCm39)	G71D	possibly damaging	Het
Cstf3	A	G	2: 104,486,076 (GRCm39)	K439E	probably benign	Het
Cyp11b2	G	T	15: 74,727,340 (GRCm39)	H114N	probably benign	Het
Cyp2d40	T	C	15: 82,645,687 (GRCm39)	D106G	probably benign	Het
Dhx8	T	A	11: 101,655,618 (GRCm39)	V1117E	probably damaging	Het
Duoxa1	G	T	2: 122,134,462 (GRCm39)	L219I	probably damaging	Het
Dynap	A	T	18: 70,374,253 (GRCm39)	I91N	probably damaging	Het
Fan1	A	T	7: 64,014,377 (GRCm39)	I618N	probably damaging	Het
Fras1	A	G	5: 96,876,410 (GRCm39)	D2381G	probably damaging	Het
Fxyd6	T	A	9: 45,302,851 (GRCm39)		probably null	Het
Gpr137b	A	T	13: 13,538,094 (GRCm39)	W286R	probably damaging	Het
Gpsm3	A	T	17: 34,809,536 (GRCm39)		probably null	Het
Has1	C	T	17: 18,064,122 (GRCm39)	V506I	probably benign	Het
Hoxd10	T	A	2: 74,522,616 (GRCm39)	V98D	probably benign	Het
Htr2b	T	A	1: 86,027,615 (GRCm39)	D297V	probably benign	Het
Hydin	G	C	8: 111,265,007 (GRCm39)	R2730P	probably benign	Het
I830077J02Rik	T	C	3: 105,833,830 (GRCm39)	N109D	possibly damaging	Het
Igf2r	A	T	17: 12,922,263 (GRCm39)	F1284I	probably damaging	Het
Ildr2	C	G	1: 166,098,144 (GRCm39)	D167E	probably damaging	Het
Ipo9	T	C	1: 135,314,046 (GRCm39)	D949G	probably benign	Het
Itga10	T	C	3: 96,564,030 (GRCm39)	F895L	probably damaging	Het
Itpr1	A	G	6: 108,365,153 (GRCm39)	N27S	probably damaging	Het
Klra4	C	A	6: 130,042,162 (GRCm39)	R35L	probably benign	Het
Map3k2	T	A	18: 32,359,682 (GRCm39)	C512S	probably benign	Het
Mertk	A	G	2: 128,601,150 (GRCm39)		probably null	Het
Mgat2	T	A	12: 69,232,407 (GRCm39)	I327N	probably damaging	Het
Mogat1	T	C	1: 78,499,496 (GRCm39)	I59T	probably damaging	Het
Mrpl2	A	T	17: 46,958,382 (GRCm39)	M55L	probably benign	Het
Nxpe3	T	C	16: 55,664,685 (GRCm39)	M512V	possibly damaging	Het
Pcdh15	T	C	10: 74,286,052 (GRCm39)	L769P	probably damaging	Het
Pcmtd2	T	G	2: 181,486,231 (GRCm39)	V117G	probably damaging	Het
Pdia2	A	T	17: 26,415,578 (GRCm39)		probably null	Het
Repin1	A	T	6: 48,574,859 (GRCm39)	Q593L	possibly damaging	Het
Rnf213	C	T	11: 119,340,692 (GRCm39)	T3517I	probably benign	Het
Rxfp2	A	T	5: 149,942,210 (GRCm39)		probably benign	Het
Skint8	T	C	4: 111,785,968 (GRCm39)	L138P	probably damaging	Het
Slc35a3	T	A	3: 116,506,417 (GRCm39)	Q5L	probably null	Het
Stab2	T	A	10: 86,778,054 (GRCm39)	N758I	probably damaging	Het
Sulf1	T	A	1: 12,908,658 (GRCm39)	I557N	probably damaging	Het
Tbc1d8	T	C	1: 39,428,455 (GRCm39)	I497V	possibly damaging	Het
Ticam2	A	C	18: 46,693,998 (GRCm39)	S30A	probably benign	Het
Timp3	T	C	10: 86,181,638 (GRCm39)	S170P	possibly damaging	Het
Top1mt	C	T	15: 75,547,973 (GRCm39)	E38K	probably benign	Het
Tpp1	G	A	7: 105,398,171 (GRCm39)	L331F	probably damaging	Het
Trpm7	A	T	2: 126,654,941 (GRCm39)	D1332E	probably benign	Het
Ttc23	A	G	7: 67,319,476 (GRCm39)	E112G	possibly damaging	Het
Ttn	T	C	2: 76,715,296 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,726,934 (GRCm39)		probably benign	Het
Ubr3	T	A	2: 69,850,969 (GRCm39)	C1796S	probably damaging	Het
Ugt2b34	C	T	5: 87,040,675 (GRCm39)	V416I	probably benign	Het
Uqcrb	A	G	13: 67,048,827 (GRCm39)		probably benign	Het
Vps26b	A	G	9: 26,921,760 (GRCm39)	L255P	probably benign	Het
Wdr59	A	G	8: 112,223,512 (GRCm39)	V154A	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
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
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
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'- TTAACAACTGCATCGACGCC -3'
(R):5'- GGCTGGATGAATAGCTCAGG -3'

Sequencing Primer
(F):5'- TGCATCGACGCCCTCAAGTC -3'
(R):5'- TCCAGGATGGATGCCTTGC -3'

Posted On

2018-10-18