Mutagenetix > Incidental Mutation

Incidental Mutation 'R4445:Elmod1'

329844

Institutional Source

Beutler Lab

Gene Symbol

Elmod1

Ensembl Gene

ENSMUSG00000041986

Gene Name

ELMO/CED-12 domain containing 1

Synonyms

MMRRC Submission

041151-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4445 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53818741-53882585 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53841413 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 93 (D93V)

Ref Sequence

ENSEMBL: ENSMUSP00000129082 (fasta)

Gene Model

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

AlphaFold

Q3V1U8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048409
AA Change: D93V

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000046191
Gene: ENSMUSG00000041986
AA Change: D93V

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000166580
AA Change: D93V

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

SMART Domains

Protein: ENSMUSP00000129082
Gene: ENSMUSG00000041986
AA Change: D93V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215313

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.5%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,285,507 (GRCm39)	S1160P	probably damaging	Het
Adgrl1	T	C	8: 84,661,489 (GRCm39)	L962P	probably damaging	Het
Arl6	A	T	16: 59,444,676 (GRCm39)	I51K	probably damaging	Het
Calcoco1	A	G	15: 102,624,175 (GRCm39)		probably null	Het
Cd59a	A	G	2: 103,941,163 (GRCm39)	Q47R	probably benign	Het
Cdkl2	G	A	5: 92,168,168 (GRCm39)	T342I	probably benign	Het
Cfap45	G	A	1: 172,362,794 (GRCm39)	V262M	probably benign	Het
Chd8	A	T	14: 52,441,984 (GRCm39)		probably null	Het
Cntnap2	C	T	6: 46,736,785 (GRCm39)	T737I	probably benign	Het
Cplane1	A	G	15: 8,281,672 (GRCm39)	D2837G	unknown	Het
Crot	T	C	5: 9,023,643 (GRCm39)	H415R	probably damaging	Het
Cyp17a1	A	G	19: 46,656,462 (GRCm39)	F411L	probably damaging	Het
Cyp4a12a	G	A	4: 115,183,980 (GRCm39)		probably null	Het
Cysltr2	G	A	14: 73,267,333 (GRCm39)	H126Y	possibly damaging	Het
Ddx56	A	T	11: 6,215,770 (GRCm39)		probably null	Het
Dync2i1	G	A	12: 116,171,335 (GRCm39)	A967V	probably damaging	Het
Epb41l2	T	C	10: 25,319,701 (GRCm39)	L178P	possibly damaging	Het
Flacc1	A	T	1: 58,706,080 (GRCm39)	I263K	possibly damaging	Het
Galnt10	T	A	11: 57,674,517 (GRCm39)	V502D	probably damaging	Het
Gm11735	T	C	11: 116,629,888 (GRCm39)		noncoding transcript	Het
H4c12	T	C	13: 21,934,513 (GRCm39)	T55A	possibly damaging	Het
Homer3	G	A	8: 70,742,793 (GRCm39)		probably null	Het
Igsf9b	A	G	9: 27,245,548 (GRCm39)	T1172A	probably benign	Het
Ip6k3	A	G	17: 27,364,076 (GRCm39)	I324T	probably benign	Het
Klkb1	C	T	8: 45,730,092 (GRCm39)	S263N	probably benign	Het
Lrit3	A	T	3: 129,582,180 (GRCm39)	C602*	probably null	Het
Lyst	T	C	13: 13,884,149 (GRCm39)	S2986P	probably benign	Het
Mapkapk5	T	C	5: 121,663,291 (GRCm39)	T445A	probably benign	Het
Mms19	A	T	19: 41,952,372 (GRCm39)	M119K	possibly damaging	Het
Myo7a	T	C	7: 97,715,611 (GRCm39)	D63G	probably damaging	Het
Nscme3l	A	T	19: 5,553,022 (GRCm39)	V253D	probably damaging	Het
Nsun2	G	A	13: 69,777,840 (GRCm39)		probably null	Het
Or13a24	C	A	7: 140,154,302 (GRCm39)	P79T	probably damaging	Het
Or1ak2	T	G	2: 36,827,563 (GRCm39)	L144R	probably damaging	Het
Or2ag1b	T	A	7: 106,288,353 (GRCm39)	Y195F	possibly damaging	Het
Or51t4	T	C	7: 102,598,005 (GRCm39)	L101P	possibly damaging	Het
Pabpc2	T	C	18: 39,907,253 (GRCm39)	F173L	probably damaging	Het
Rngtt	A	G	4: 33,499,035 (GRCm39)	I531V	probably benign	Het
Sacs	A	G	14: 61,442,135 (GRCm39)	M1394V	probably benign	Het
Setd1b	G	T	5: 123,286,167 (GRCm39)	E404D	unknown	Het
Slc25a54	G	A	3: 109,005,984 (GRCm39)	R164H	probably benign	Het
Slc2a13	A	G	15: 91,234,223 (GRCm39)	V371A	possibly damaging	Het
Spag9	C	G	11: 93,988,079 (GRCm39)	L798V	possibly damaging	Het
Tbce	A	T	13: 14,172,980 (GRCm39)	S484T	possibly damaging	Het
Tcf12	C	T	9: 71,776,345 (GRCm39)	R399Q	probably damaging	Het
Ttn	A	G	2: 76,615,177 (GRCm39)	V16847A	probably benign	Het
Ttn	A	G	2: 76,687,210 (GRCm39)		probably benign	Het
Vmn1r11	T	G	6: 57,114,515 (GRCm39)	L23V	probably benign	Het
Vmn2r59	C	T	7: 41,691,874 (GRCm39)	C541Y	probably damaging	Het
Vmn2r82	A	C	10: 79,214,874 (GRCm39)	T286P	possibly damaging	Het
Vps13c	T	G	9: 67,889,777 (GRCm39)		probably null	Het
Ypel1	A	T	16: 16,921,464 (GRCm39)	Y73*	probably null	Het
Zdhhc6	T	C	19: 55,291,169 (GRCm39)	I349V	probably benign	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
R4573:Elmod1	UTSW	9	53,833,256 (GRCm39)	missense	probably damaging	1.00
R5895:Elmod1	UTSW	9	53,843,091 (GRCm39)	missense	probably damaging	0.99
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'- TTACGAACATGAAGAGCCCC -3'
(R):5'- TGCTTTCATACAGAAGTGTGGC -3'

Sequencing Primer
(F):5'- TCTGAAATTCAAAACACTACAGATGG -3'
(R):5'- AGTGTGGCACTTGACGC -3'

Posted On

2015-07-21