Mutagenetix > Incidental Mutation

Incidental Mutation 'R5895:Elmod1'

457455

Institutional Source

Beutler Lab

Gene Symbol

Elmod1

Ensembl Gene

ENSMUSG00000041986

Gene Name

ELMO/CED-12 domain containing 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53818741-53882585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53843091 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 29 (R29Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048409] [ENSMUST00000166580]

AlphaFold

Q3V1U8

Predicted Effect

probably damaging
Transcript: ENSMUST00000048409
AA Change: R29Q

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046191
Gene: ENSMUSG00000041986
AA Change: R29Q

Domain	Start	End	E-Value	Type
Pfam:ELMO_CED12	117	295	3.8e-49	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000166580
AA Change: R29Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129082
Gene: ENSMUSG00000041986
AA Change: R29Q

Domain	Start	End	E-Value	Type
Pfam:ELMO_CED12	114	296	9.6e-53	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215313

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.7%

Validation Efficiency

98% (64/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a spontaneous allele exhibit circling, absent startle reflex, deafness, organ of Corti degeneration and abnormal cochlear hair stereociliary bundle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,752,216 (GRCm39)	G426S	probably damaging	Het
Casp4	A	T	9: 5,328,573 (GRCm39)		probably benign	Het
Ccdc40	T	A	11: 119,144,229 (GRCm39)	F988Y	probably damaging	Het
Ccdc9b	T	C	2: 118,590,098 (GRCm39)	T249A	probably benign	Het
Chd5	T	A	4: 152,464,389 (GRCm39)	V1516E	probably benign	Het
Chrnd	T	A	1: 87,123,389 (GRCm39)		probably null	Het
Col5a3	C	A	9: 20,683,738 (GRCm39)	G1506V	unknown	Het
Csgalnact2	A	T	6: 118,106,215 (GRCm39)	C34*	probably null	Het
Ddx23	T	C	15: 98,549,832 (GRCm39)	K195E	probably benign	Het
Dhps	T	G	8: 85,800,880 (GRCm39)	S240A	probably benign	Het
Dnah5	T	A	15: 28,234,599 (GRCm39)		probably null	Het
Dock10	T	C	1: 80,514,676 (GRCm39)	T1414A	probably benign	Het
Dock4	A	G	12: 40,805,812 (GRCm39)	D928G	probably damaging	Het
Dolpp1	T	C	2: 30,285,658 (GRCm39)		probably benign	Het
Dse	T	A	10: 34,028,601 (GRCm39)	I830F	probably damaging	Het
Ephx4	T	A	5: 107,577,518 (GRCm39)		probably null	Het
Evi5	A	T	5: 107,968,302 (GRCm39)	M215K	probably damaging	Het
Fbxl4	T	C	4: 22,390,678 (GRCm39)	L287P	probably damaging	Het
Gbp9	G	A	5: 105,230,724 (GRCm39)	S400L	probably damaging	Het
Gm6291	T	C	18: 6,371,365 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,688,596 (GRCm39)	D301E	probably benign	Het
Gna14	C	T	19: 16,580,692 (GRCm39)	R177C	possibly damaging	Het
Golph3	C	T	15: 12,339,756 (GRCm39)	R90C	probably damaging	Het
Gpr142	T	A	11: 114,689,785 (GRCm39)	C12*	probably null	Het
Hat1	T	A	2: 71,239,357 (GRCm39)	N43K	possibly damaging	Het
Hivep1	A	T	13: 42,310,694 (GRCm39)	E978V	possibly damaging	Het
Hormad1	G	A	3: 95,467,044 (GRCm39)		probably null	Het
Kalrn	C	T	16: 33,795,805 (GRCm39)		probably benign	Het
Mars1	T	C	10: 127,132,418 (GRCm39)	T860A	probably benign	Het
Mdn1	A	T	4: 32,695,400 (GRCm39)	L1146F	probably damaging	Het
Met	A	G	6: 17,531,581 (GRCm39)	T620A	probably benign	Het
Mppe1	T	C	18: 67,358,834 (GRCm39)	E378G	probably benign	Het
Mybpc3	T	A	2: 90,955,010 (GRCm39)	V481D	probably damaging	Het
Myh14	A	T	7: 44,256,133 (GRCm39)	L1924Q	probably damaging	Het
Mylip	G	T	13: 45,562,178 (GRCm39)	E327*	probably null	Het
Naip1	C	T	13: 100,559,636 (GRCm39)	G1123R	probably benign	Het
Naip6	A	G	13: 100,452,500 (GRCm39)	V187A	possibly damaging	Het
Ncam1	T	A	9: 49,418,343 (GRCm39)	T986S	probably benign	Het
Or13p4	T	C	4: 118,547,314 (GRCm39)	I112V	probably damaging	Het
Or4x13	T	C	2: 90,231,800 (GRCm39)	I265T	probably benign	Het
Phactr2	C	T	10: 13,121,261 (GRCm39)	G480S	probably damaging	Het
Por	A	G	5: 135,744,838 (GRCm39)	I34V	probably benign	Het
Ppp2r5b	C	T	19: 6,284,764 (GRCm39)	R33H	probably damaging	Het
Prkdc	C	A	16: 15,570,693 (GRCm39)	Y2325*	probably null	Het
Prx	A	G	7: 27,214,709 (GRCm39)	E73G	probably damaging	Het
Rbms2	C	A	10: 127,981,556 (GRCm39)	A126S	possibly damaging	Het
Rhoq	C	T	17: 87,302,117 (GRCm39)	A111V	probably damaging	Het
Rpl14	T	A	9: 120,403,240 (GRCm39)		probably benign	Het
Serbp1	A	G	6: 67,249,870 (GRCm39)	*75W	probably null	Het
Sptbn1	C	A	11: 30,073,978 (GRCm39)	V1351F	probably damaging	Het
Supt16	A	G	14: 52,401,979 (GRCm39)	V897A	probably benign	Het
Tfdp1	T	A	8: 13,407,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,780,487 (GRCm39)	Y1088F	probably damaging	Het
Vmn2r105	G	T	17: 20,448,929 (GRCm39)	Q83K	probably benign	Het
Wdr76	A	T	2: 121,359,323 (GRCm39)	S221C	probably damaging	Het
Zfhx2	G	T	14: 55,303,348 (GRCm39)	F1545L	probably benign	Het
Zfp318	A	G	17: 46,709,959 (GRCm39)	I561V	probably damaging	Het

Other mutations in Elmod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Elmod1	APN	9	53,831,682 (GRCm39)	critical splice donor site	probably null
IGL01803:Elmod1	APN	9	53,838,764 (GRCm39)	missense	probably benign	0.01
IGL01966:Elmod1	APN	9	53,828,611 (GRCm39)	missense	probably benign	0.00
IGL02354:Elmod1	APN	9	53,838,842 (GRCm39)	missense	probably damaging	1.00
IGL02361:Elmod1	APN	9	53,838,842 (GRCm39)	missense	probably damaging	1.00
IGL03107:Elmod1	APN	9	53,841,507 (GRCm39)	splice site	probably benign
IGL03277:Elmod1	APN	9	53,833,272 (GRCm39)	missense	probably damaging	1.00
R0013:Elmod1	UTSW	9	53,820,185 (GRCm39)	splice site	probably benign
R0013:Elmod1	UTSW	9	53,820,185 (GRCm39)	splice site	probably benign
R0243:Elmod1	UTSW	9	53,842,831 (GRCm39)	splice site	probably benign
R0530:Elmod1	UTSW	9	53,833,260 (GRCm39)	missense	probably damaging	0.96
R0555:Elmod1	UTSW	9	53,838,876 (GRCm39)	splice site	probably benign
R0592:Elmod1	UTSW	9	53,833,390 (GRCm39)	splice site	probably benign
R0670:Elmod1	UTSW	9	53,820,106 (GRCm39)	missense	probably damaging	0.96
R1054:Elmod1	UTSW	9	53,820,058 (GRCm39)	missense	probably benign	0.02
R1195:Elmod1	UTSW	9	53,843,052 (GRCm39)	missense	probably damaging	1.00
R1195:Elmod1	UTSW	9	53,843,052 (GRCm39)	missense	probably damaging	1.00
R1195:Elmod1	UTSW	9	53,843,052 (GRCm39)	missense	probably damaging	1.00
R1875:Elmod1	UTSW	9	53,843,151 (GRCm39)	missense	probably benign	0.00
R4445:Elmod1	UTSW	9	53,841,413 (GRCm39)	missense	probably damaging	1.00
R4573:Elmod1	UTSW	9	53,833,256 (GRCm39)	missense	probably damaging	1.00
R6826:Elmod1	UTSW	9	53,826,883 (GRCm39)	missense	probably benign	0.02
R7181:Elmod1	UTSW	9	53,841,382 (GRCm39)	splice site	probably null
R7334:Elmod1	UTSW	9	53,841,508 (GRCm39)	splice site	probably null
R7422:Elmod1	UTSW	9	53,820,127 (GRCm39)	missense	probably damaging	0.99
R7964:Elmod1	UTSW	9	53,838,860 (GRCm39)	missense	probably benign	0.00
R8511:Elmod1	UTSW	9	53,820,095 (GRCm39)	missense	probably damaging	1.00
R9335:Elmod1	UTSW	9	53,843,116 (GRCm39)	missense	probably benign	0.01
R9362:Elmod1	UTSW	9	53,833,304 (GRCm39)	missense	possibly damaging	0.80
Z1088:Elmod1	UTSW	9	53,826,898 (GRCm39)	missense	probably benign	0.00
Z1176:Elmod1	UTSW	9	53,854,144 (GRCm39)	missense	probably benign	0.22

Predicted Primers

PCR Primer
(F):5'- CTCAGTGACGTTTCTGTTAAGGC -3'
(R):5'- AATGGCTGATTTTCTTCCCCGG -3'

Sequencing Primer
(F):5'- GTGACGTTTCTGTTAAGGCAATAAC -3'
(R):5'- CCGGCTTCTTTTCTTGCTGGTG -3'

Posted On

2017-02-15