Mutagenetix > Incidental Mutation

Incidental Mutation 'R3078:Gm9913'

265275

Institutional Source

Beutler Lab

Gene Symbol

Gm9913

Ensembl Gene

ENSMUSG00000053615

Gene Name

predicted gene 9913

Synonyms

MMRRC Submission

040568-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R3078 (G1)

Quality Score

183

Status

Not validated

Chromosome

Chromosomal Location

125347009-125349801 bp(+) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

A to G at 125348459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000099524 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028633] [ENSMUST00000066157] [ENSMUST00000103234]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028633

SMART Domains

Protein: ENSMUSP00000028633
Gene: ENSMUSG00000027204

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
EGF	118	146	8.52e0	SMART
EGF	149	178	5.4e-2	SMART
Pfam:TB	193	235	6.9e-17	PFAM
EGF_CA	246	287	3.56e-11	SMART
EGF_CA	288	329	9.39e-11	SMART
Pfam:TB	343	388	2.3e-17	PFAM
low complexity region	394	445	N/A	INTRINSIC
EGF	454	491	8.57e-5	SMART
EGF_CA	492	531	9.39e-11	SMART
EGF_CA	532	573	2.38e-12	SMART
EGF_CA	574	614	5.48e-12	SMART
EGF_CA	615	655	5.39e-11	SMART
Pfam:TB	670	712	1.4e-17	PFAM
EGF_CA	725	766	1.53e-10	SMART
EGF_CA	767	808	2.42e-13	SMART
EGF_CA	809	848	2.44e-9	SMART
Pfam:TB	862	902	2.1e-14	PFAM
EGF_CA	912	953	3.32e-11	SMART
Pfam:TB	967	1009	3.9e-17	PFAM
EGF_CA	1030	1071	5.11e-12	SMART
EGF_CA	1072	1114	5.39e-11	SMART
EGF_CA	1115	1156	1.55e-11	SMART
EGF_CA	1157	1198	5.48e-12	SMART
EGF_CA	1199	1239	5.61e-9	SMART
EGF_CA	1240	1281	1.22e-9	SMART
EGF_CA	1282	1323	2.62e-9	SMART
EGF_CA	1324	1364	3.27e-10	SMART
EGF_CA	1365	1405	4.7e-11	SMART
EGF_CA	1406	1447	1.91e-11	SMART
EGF_CA	1448	1488	1.98e-9	SMART
EGF_CA	1489	1529	2.13e-9	SMART
Pfam:TB	1549	1590	3.5e-18	PFAM
EGF_CA	1608	1649	2.19e-11	SMART
EGF_CA	1650	1690	3.97e-9	SMART
Pfam:TB	1706	1749	9.7e-18	PFAM
EGF_CA	1768	1809	5.11e-12	SMART
EGF_CA	1810	1850	1.1e-11	SMART
EGF_CA	1851	1892	5.69e-10	SMART
EGF_CA	1893	1931	6.1e-10	SMART
EGF_CA	1932	1974	2.11e-13	SMART
EGF_CA	1975	2014	7.23e-12	SMART
EGF_CA	2015	2056	3.15e-12	SMART
Pfam:TB	2070	2112	3.7e-17	PFAM
EGF_CA	2129	2167	1.24e-10	SMART
EGF_CA	2168	2207	3.81e-11	SMART
EGF_CA	2208	2248	3.81e-11	SMART
EGF	2252	2292	5.24e0	SMART
EGF_CA	2293	2334	9.91e-10	SMART
Pfam:TB	2348	2391	8.5e-18	PFAM
EGF_CA	2404	2445	1.26e-11	SMART
EGF_CA	2446	2486	1.06e-9	SMART
EGF_CA	2487	2525	3.1e-11	SMART
EGF_CA	2526	2568	1.48e-8	SMART
EGF_CA	2569	2608	1.14e-9	SMART
EGF_CA	2609	2649	3.97e-9	SMART
EGF_CA	2650	2689	1.98e-9	SMART
low complexity region	2691	2698	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000066157
AA Change: D90G

SMART Domains

Protein: ENSMUSP00000067018
Gene: ENSMUSG00000053615
AA Change: D90G

Domain	Start	End	E-Value	Type
low complexity region	25	36	N/A	INTRINSIC
low complexity region	91	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000103234

SMART Domains

Protein: ENSMUSP00000099524
Gene: ENSMUSG00000027204

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	38	49	N/A	INTRINSIC
EGF	118	146	8.52e0	SMART
EGF	149	178	5.4e-2	SMART
Pfam:TB	194	232	3.5e-10	PFAM
EGF_CA	246	287	3.56e-11	SMART
EGF_CA	288	329	9.39e-11	SMART
Pfam:TB	344	388	6.8e-15	PFAM
low complexity region	394	445	N/A	INTRINSIC
EGF	454	491	8.57e-5	SMART
EGF_CA	492	531	9.39e-11	SMART
EGF_CA	532	573	2.38e-12	SMART
EGF_CA	574	614	5.48e-12	SMART
EGF_CA	615	655	5.39e-11	SMART
Pfam:TB	671	712	8.3e-16	PFAM
EGF_CA	725	766	1.53e-10	SMART
EGF_CA	767	808	2.42e-13	SMART
EGF_CA	809	848	2.44e-9	SMART
Pfam:TB	863	898	3.1e-8	PFAM
EGF_CA	912	953	3.32e-11	SMART
Pfam:TB	968	1009	1.5e-15	PFAM
EGF_CA	1030	1071	5.11e-12	SMART
EGF_CA	1072	1114	5.39e-11	SMART
EGF_CA	1115	1156	1.55e-11	SMART
EGF_CA	1157	1198	5.48e-12	SMART
EGF_CA	1199	1239	5.61e-9	SMART
EGF_CA	1240	1281	1.22e-9	SMART
EGF_CA	1282	1323	2.62e-9	SMART
EGF_CA	1324	1364	3.27e-10	SMART
EGF_CA	1365	1405	4.7e-11	SMART
EGF_CA	1406	1447	1.91e-11	SMART
EGF_CA	1448	1488	1.98e-9	SMART
EGF_CA	1489	1529	2.13e-9	SMART
Pfam:TB	1550	1590	5.3e-17	PFAM
EGF_CA	1608	1649	2.19e-11	SMART
EGF_CA	1650	1690	3.97e-9	SMART
Pfam:TB	1707	1749	1.6e-16	PFAM
EGF_CA	1768	1809	5.11e-12	SMART
EGF_CA	1810	1850	1.1e-11	SMART
EGF_CA	1851	1892	5.69e-10	SMART
EGF_CA	1893	1931	6.1e-10	SMART
EGF_CA	1932	1974	2.11e-13	SMART
EGF_CA	1975	2014	7.23e-12	SMART
EGF_CA	2015	2056	3.15e-12	SMART
Pfam:TB	2071	2112	1.9e-15	PFAM
EGF_CA	2129	2167	1.24e-10	SMART
EGF_CA	2168	2207	3.81e-11	SMART
EGF_CA	2208	2248	3.81e-11	SMART
EGF	2252	2292	5.24e0	SMART
EGF_CA	2293	2334	9.91e-10	SMART
Pfam:TB	2349	2391	5.8e-15	PFAM
EGF_CA	2404	2445	1.26e-11	SMART
EGF_CA	2446	2486	1.06e-9	SMART
EGF_CA	2487	2525	3.1e-11	SMART
EGF_CA	2526	2568	1.48e-8	SMART
EGF_CA	2569	2608	1.14e-9	SMART
EGF_CA	2609	2649	3.97e-9	SMART
EGF_CA	2650	2689	1.98e-9	SMART
low complexity region	2691	2698	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148272

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

93% (42/45)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,306,764 (GRCm39)	I1981V	probably benign	Het
Actr3b	A	G	5: 26,027,440 (GRCm39)	Y37C	probably damaging	Het
Adgrd1	A	T	5: 129,206,169 (GRCm39)	I248F	probably benign	Het
Alg10b	T	C	15: 90,112,139 (GRCm39)	S328P	probably benign	Het
C5ar2	G	A	7: 15,971,349 (GRCm39)	R193C	probably damaging	Het
Cct8	A	G	16: 87,285,765 (GRCm39)	V231A	possibly damaging	Het
Clca4a	C	T	3: 144,674,014 (GRCm39)	M240I	probably damaging	Het
Cmya5	A	T	13: 93,185,435 (GRCm39)	I3520N	probably damaging	Het
Dock6	G	T	9: 21,757,050 (GRCm39)		probably benign	Het
Dynlrb1	T	A	2: 155,091,865 (GRCm39)	I99N	probably damaging	Het
Ebf4	G	A	2: 130,148,419 (GRCm39)	D77N	probably damaging	Het
Fbxw10	C	T	11: 62,758,339 (GRCm39)		probably benign	Het
Gm10801	T	C	2: 98,494,197 (GRCm39)	I113T	probably damaging	Het
Gm5499	T	C	17: 87,386,314 (GRCm39)		noncoding transcript	Het
Herc2	A	G	7: 55,786,991 (GRCm39)	N1612S	probably benign	Het
Ifnar2	T	C	16: 91,182,889 (GRCm39)	S53P	possibly damaging	Het
Inpp5j	T	A	11: 3,453,124 (GRCm39)		probably null	Het
Insyn2a	A	G	7: 134,519,750 (GRCm39)	I260T	probably benign	Het
Iqca1l	G	C	5: 24,751,664 (GRCm39)	T528S	probably benign	Het
Kif14	T	G	1: 136,447,383 (GRCm39)	I1396S	possibly damaging	Het
Med28	A	G	5: 45,679,820 (GRCm39)	T68A	possibly damaging	Het
Meis1	A	T	11: 18,961,254 (GRCm39)	N206K	probably benign	Het
Mfsd14a	T	C	3: 116,441,566 (GRCm39)		probably benign	Het
Mnt	G	C	11: 74,733,936 (GRCm39)		probably benign	Het
Mto1	A	G	9: 78,365,310 (GRCm39)	Y413C	probably damaging	Het
Myo7b	T	C	18: 32,100,237 (GRCm39)	D1599G	probably benign	Het
Myoz1	T	C	14: 20,703,685 (GRCm39)		probably benign	Het
Nhsl2	C	T	X: 101,121,201 (GRCm39)	R62W	probably damaging	Het
Npr2	T	A	4: 43,640,182 (GRCm39)	Y306N	probably damaging	Het
Nrxn3	T	G	12: 89,227,186 (GRCm39)	C274G	probably damaging	Het
Or1e29	G	A	11: 73,667,466 (GRCm39)	P229L	possibly damaging	Het
Or5ac22	A	T	16: 59,135,089 (GRCm39)	M227K	probably benign	Het
Phldb2	T	C	16: 45,645,373 (GRCm39)	T403A	probably benign	Het
Plaa	T	C	4: 94,458,042 (GRCm39)	I643V	probably benign	Het
Slc28a2b	T	C	2: 122,344,895 (GRCm39)	L167P	possibly damaging	Het
Stau1	T	C	2: 166,796,936 (GRCm39)	I154V	possibly damaging	Het
Ugcg	T	G	4: 59,213,922 (GRCm39)	V168G	probably damaging	Het
Vmn2r2	T	C	3: 64,042,053 (GRCm39)	I221V	probably benign	Het
Wdr93	T	C	7: 79,402,241 (GRCm39)	I180T	possibly damaging	Het
Whamm	G	C	7: 81,221,532 (GRCm39)	G155R	probably damaging	Het
Wnt5a	T	A	14: 28,235,140 (GRCm39)	Y41*	probably null	Het

Other mutations in Gm9913

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02563:Gm9913	APN	2	125,348,254 (GRCm39)	utr 5 prime	probably benign
R6124:Gm9913	UTSW	2	125,348,393 (GRCm39)	utr 5 prime	probably benign
R7678:Gm9913	UTSW	2	125,348,480 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCAGATGCTCGAGACATCC -3'
(R):5'- GGTCTAAACCGCTACTCCAC -3'

Sequencing Primer
(F):5'- ATGAGACCCACTGGACTAGCG -3'
(R):5'- AAACCGCTACTCCACCTCTTC -3'

Posted On

2015-02-05