Mutagenetix > Incidental Mutation

Incidental Mutation 'R7173:Elmod3'

558418

Institutional Source

Beutler Lab

Gene Symbol

Elmod3

Ensembl Gene

ENSMUSG00000056698

Gene Name

ELMO/CED-12 domain containing 3

Synonyms

Rbed1, ELMOD3, C330008I15Rik, RBM29

MMRRC Submission

045265-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7173 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72542905-72575396 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 72554235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000067768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070990] [ENSMUST00000114069] [ENSMUST00000141833] [ENSMUST00000148108]

AlphaFold

Q91YP6

Predicted Effect

probably null
Transcript: ENSMUST00000070990

SMART Domains

Protein: ENSMUSP00000067768
Gene: ENSMUSG00000056698

Domain	Start	End	E-Value	Type
Pfam:ELMO_CED12	151	314	3.3e-38	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000114069

SMART Domains

Protein: ENSMUSP00000109703
Gene: ENSMUSG00000056698

Domain	Start	End	E-Value	Type
Pfam:ELMO_CED12	154	313	1.2e-33	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000141833

Predicted Effect

probably null
Transcript: ENSMUST00000148108

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (79/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the engulfment and cell motility family of GTPase-activating proteins that regulate Arf GTPase proteins. Members of this family are defined by a conserved engulfment and cell motility domain. In rat cochlea, the encoded protein is found in stereocilia, kinocilia and cuticular plate of developing hair cells suggesting a function for this protein in cochlear sensory cells. An allelic variant of this family has been associated with autosomal recessive nonsyndromic deafness-88 in humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,833,848 (GRCm39)	V403I	possibly damaging	Het
Actn1	G	A	12: 80,224,033 (GRCm39)	R475C	possibly damaging	Het
Adam11	T	C	11: 102,662,757 (GRCm39)	L191P	possibly damaging	Het
Adam21	G	T	12: 81,606,008 (GRCm39)	Q585K	probably benign	Het
Akap3	T	C	6: 126,841,729 (GRCm39)	V116A	probably benign	Het
Alpk1	A	T	3: 127,478,024 (GRCm39)	Y74*	probably null	Het
Alx4	G	T	2: 93,473,202 (GRCm39)	G67C	possibly damaging	Het
Ankrd17	A	T	5: 90,407,976 (GRCm39)	C1414S	possibly damaging	Het
Ankrd44	T	C	1: 54,805,550 (GRCm39)	D170G	probably damaging	Het
Arpc2	T	A	1: 74,303,531 (GRCm39)	M266K	probably damaging	Het
Atp12a	A	T	14: 56,621,837 (GRCm39)	N794I	probably damaging	Het
Cabin1	A	G	10: 75,582,396 (GRCm39)	L340P	probably benign	Het
Ccer1	A	T	10: 97,529,217 (GRCm39)		probably benign	Het
Cfap73	A	T	5: 120,772,279 (GRCm39)	Y8N	probably damaging	Het
Cfhr4	C	A	1: 139,659,415 (GRCm39)	E705*	probably null	Het
Cln3	T	C	7: 126,178,589 (GRCm39)	T173A	probably damaging	Het
Cxcl3	A	T	5: 90,934,008 (GRCm39)		probably benign	Het
Cyp2c66	G	C	19: 39,159,401 (GRCm39)	C284S	probably benign	Het
Dnajc22	T	C	15: 98,999,187 (GRCm39)	V124A	probably benign	Het
Dync1h1	C	G	12: 110,568,173 (GRCm39)	D45E	probably benign	Het
Enpp3	A	C	10: 24,649,945 (GRCm39)	V827G	probably damaging	Het
Esyt2	T	C	12: 116,327,154 (GRCm39)	I574T	probably benign	Het
Ext2	A	T	2: 93,643,957 (GRCm39)	I108N	probably damaging	Het
Fam186a	T	C	15: 99,843,531 (GRCm39)	I904M	unknown	Het
Fmnl2	T	C	2: 53,004,202 (GRCm39)	I638T	unknown	Het
Fndc3c1	G	C	X: 105,478,679 (GRCm39)	L724V	possibly damaging	Het
Fras1	G	T	5: 96,925,937 (GRCm39)	A3714S	probably damaging	Het
Fsd1	C	A	17: 56,303,696 (GRCm39)	R479S	possibly damaging	Het
Gaa	C	T	11: 119,169,817 (GRCm39)	L624F	probably damaging	Het
Galnt2	G	A	8: 125,032,292 (GRCm39)	V86I	probably benign	Het
Gdap1l1	T	G	2: 163,280,608 (GRCm39)	V48G	probably damaging	Het
Gm10549	A	G	18: 33,597,462 (GRCm39)	T83A	unknown	Het
Gm11437	T	G	11: 84,055,374 (GRCm39)	T81P	probably benign	Het
Gm16253	T	C	3: 96,487,979 (GRCm39)		probably null	Het
Gprc6a	A	T	10: 51,504,595 (GRCm39)	M83K	probably benign	Het
Grik5	T	C	7: 24,767,587 (GRCm39)	D31G	probably damaging	Het
Hcrtr2	A	G	9: 76,167,013 (GRCm39)	L108P	probably damaging	Het
Herc2	T	A	7: 55,853,575 (GRCm39)	L3689Q	probably damaging	Het
Igf2bp1	T	C	11: 95,859,290 (GRCm39)	M407V	probably benign	Het
Irgq	A	T	7: 24,233,185 (GRCm39)	E342V	probably damaging	Het
Itih2	A	T	2: 10,109,974 (GRCm39)	I593N	probably damaging	Het
Ivd	G	T	2: 118,701,870 (GRCm39)	G101C	probably damaging	Het
Jakmip1	G	A	5: 37,248,708 (GRCm39)	G123S	probably damaging	Het
Kif14	T	A	1: 136,406,908 (GRCm39)	I580N	probably damaging	Het
Kmt2e	A	T	5: 23,669,855 (GRCm39)	Y114F	probably damaging	Het
Ly6g5b	C	A	17: 35,333,680 (GRCm39)	C99F	probably damaging	Het
Map3k20	C	T	2: 72,271,758 (GRCm39)	P629S	probably benign	Het
Mpl	A	G	4: 118,305,741 (GRCm39)		probably null	Het
Muc4	T	C	16: 32,582,862 (GRCm39)	F476L	probably damaging	Het
Mup18	T	C	4: 61,590,199 (GRCm39)	T110A	probably benign	Het
Nlrp9a	A	G	7: 26,257,603 (GRCm39)	D407G	probably benign	Het
Nmur1	G	A	1: 86,314,190 (GRCm39)	R359C	probably benign	Het
Or5ac24	T	C	16: 59,165,510 (GRCm39)	T185A	probably benign	Het
Or5p64	C	T	7: 107,854,955 (GRCm39)	C130Y	possibly damaging	Het
Panx3	A	T	9: 37,572,596 (GRCm39)	M318K	probably damaging	Het
Pcnx1	T	C	12: 81,999,777 (GRCm39)		probably null	Het
Pcsk5	T	C	19: 17,455,241 (GRCm39)	Y1063C	possibly damaging	Het
Psme3ip1	A	T	8: 95,315,486 (GRCm39)	F15L	probably damaging	Het
Rere	G	A	4: 150,553,195 (GRCm39)	R129H	probably damaging	Het
Rpgrip1	A	G	14: 52,349,633 (GRCm39)	Y7C	possibly damaging	Het
Serpina6	T	C	12: 103,613,253 (GRCm39)	N349S	possibly damaging	Het
Slc10a1	T	G	12: 81,002,750 (GRCm39)	E296A	probably damaging	Het
Slc2a9	A	T	5: 38,610,214 (GRCm39)		probably null	Het
Sptan1	T	A	2: 29,873,221 (GRCm39)	M138K	probably benign	Het
Tbl3	T	C	17: 24,924,233 (GRCm39)	T175A	probably benign	Het
Tbrg4	T	C	11: 6,570,810 (GRCm39)	T221A	possibly damaging	Het
Tenm2	T	C	11: 35,932,378 (GRCm39)	T1739A	probably damaging	Het
Tmed5	T	C	5: 108,280,187 (GRCm39)	D35G	probably benign	Het
Tnfsf15	A	T	4: 63,647,889 (GRCm39)	S250R	probably damaging	Het
Tnpo2	G	T	8: 85,781,707 (GRCm39)	V830F	probably benign	Het
Ttbk2	G	T	2: 120,570,592 (GRCm39)	S1187Y	probably damaging	Het
Ttn	G	A	2: 76,625,029 (GRCm39)	T15183M	possibly damaging	Het
Tubgcp3	T	C	8: 12,689,259 (GRCm39)		probably null	Het
Vmn1r38	T	C	6: 66,753,278 (GRCm39)	I279M	possibly damaging	Het
Vmn1r49	A	T	6: 90,049,250 (GRCm39)	Y251N	possibly damaging	Het
Vmn1r66	C	T	7: 10,008,482 (GRCm39)	V184I	probably benign	Het
Vmn2r26	T	A	6: 124,038,255 (GRCm39)	M610K	probably benign	Het
Xrn2	C	T	2: 146,884,013 (GRCm39)	P591S	probably damaging	Het

Other mutations in Elmod3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01818:Elmod3	APN	6	72,563,490 (GRCm39)	missense	possibly damaging	0.66
IGL02725:Elmod3	APN	6	72,571,758 (GRCm39)	missense	probably damaging	0.96
IGL03089:Elmod3	APN	6	72,546,299 (GRCm39)	missense	probably damaging	1.00
R0092:Elmod3	UTSW	6	72,543,792 (GRCm39)	missense	probably benign
R0173:Elmod3	UTSW	6	72,554,571 (GRCm39)	missense	probably damaging	1.00
R0925:Elmod3	UTSW	6	72,545,921 (GRCm39)	missense	probably damaging	1.00
R1602:Elmod3	UTSW	6	72,546,242 (GRCm39)	critical splice donor site	probably null
R3147:Elmod3	UTSW	6	72,563,485 (GRCm39)	missense	probably benign	0.01
R5594:Elmod3	UTSW	6	72,571,799 (GRCm39)	unclassified	probably benign
R5870:Elmod3	UTSW	6	72,571,721 (GRCm39)	critical splice donor site	probably null
R6045:Elmod3	UTSW	6	72,545,851 (GRCm39)	missense	probably benign
R7229:Elmod3	UTSW	6	72,571,736 (GRCm39)	missense	probably benign	0.09
R8534:Elmod3	UTSW	6	72,543,667 (GRCm39)	missense	probably benign	0.01
R8887:Elmod3	UTSW	6	72,563,494 (GRCm39)	missense	probably damaging	1.00
R9060:Elmod3	UTSW	6	72,543,790 (GRCm39)	missense	probably damaging	1.00
Z1177:Elmod3	UTSW	6	72,543,672 (GRCm39)	missense	probably benign	0.37

Predicted Primers

PCR Primer
(F):5'- TCCCATGTGTGCCACTAAAGTG -3'
(R):5'- GTTGGTTTCTCCCTGGGAAC -3'

Sequencing Primer
(F):5'- CTAAAGTGCTTCCTGACAGATGGC -3'
(R):5'- ACAGCCTAGTAGAAAGTGTGC -3'

Posted On

2019-06-26