Mutagenetix > Incidental Mutation

Incidental Mutation 'R9719:Gm10518'

730646

Institutional Source

Beutler Lab

Gene Symbol

Gm10518

Ensembl Gene

ENSMUSG00000073486

Gene Name

predicted gene 10518

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R9719 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

179630941-179632241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 179631113 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 58 (R58S)

Ref Sequence

ENSEMBL: ENSMUSP00000095063 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027768] [ENSMUST00000097454]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000027768

SMART Domains

Protein: ENSMUSP00000027768
Gene: ENSMUSG00000026491

Domain	Start	End	E-Value	Type
Pfam:ELYS-bb	1	489	1.6e-307	PFAM
Pfam:ELYS	722	955	2.5e-58	PFAM
low complexity region	1138	1155	N/A	INTRINSIC
low complexity region	1180	1192	N/A	INTRINSIC
low complexity region	1352	1366	N/A	INTRINSIC
low complexity region	1597	1610	N/A	INTRINSIC
low complexity region	1684	1694	N/A	INTRINSIC
low complexity region	1834	1841	N/A	INTRINSIC
low complexity region	1918	1935	N/A	INTRINSIC
AT_hook	1955	1967	3.35e-1	SMART
low complexity region	2060	2066	N/A	INTRINSIC
low complexity region	2073	2084	N/A	INTRINSIC
low complexity region	2096	2108	N/A	INTRINSIC
Blast:KISc	2164	2217	2e-12	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000097454
AA Change: R58S

SMART Domains

Protein: ENSMUSP00000095063
Gene: ENSMUSG00000073486
AA Change: R58S

Domain	Start	End	E-Value	Type
low complexity region	32	45	N/A	INTRINSIC
low complexity region	110	119	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alppl2	T	A	1: 87,016,136 (GRCm39)	Q241L	probably benign	Het
Apob	T	A	12: 8,065,464 (GRCm39)	N4144K	probably benign	Het
B4gat1	A	G	19: 5,090,516 (GRCm39)	H413R	probably benign	Het
Ccdc179	T	C	7: 51,664,612 (GRCm39)	T28A	probably benign	Het
Ceacam5	A	C	7: 17,491,835 (GRCm39)	D735A	probably damaging	Het
Col18a1	C	T	10: 76,949,432 (GRCm39)	D27N	unknown	Het
Colgalt1	A	G	8: 72,073,456 (GRCm39)	E359G	probably benign	Het
Crybg2	T	A	4: 133,793,148 (GRCm39)	I261N	probably benign	Het
Cyyr1	A	T	16: 85,219,203 (GRCm39)	L68Q	unknown	Het
Dgkz	T	A	2: 91,768,911 (GRCm39)		probably null	Het
Efcab3	A	T	11: 104,867,912 (GRCm39)	E3947V	unknown	Het
Eif2ak2	C	A	17: 79,162,783 (GRCm39)	D472Y	probably damaging	Het
Elp2	A	G	18: 24,755,539 (GRCm39)	T429A	possibly damaging	Het
Fen1	G	A	19: 10,178,016 (GRCm39)	H143Y	probably benign	Het
Hspa1b	T	C	17: 35,176,467 (GRCm39)	D506G	probably damaging	Het
Inhca	G	T	9: 103,132,014 (GRCm39)	P569H	probably benign	Het
Kcna7	A	G	7: 45,056,390 (GRCm39)	D202G	probably benign	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Mal	C	T	2: 127,498,025 (GRCm39)	S10N	possibly damaging	Het
Mgat2	T	A	12: 69,232,115 (GRCm39)	W230R	probably damaging	Het
Myo3a	A	T	2: 22,436,493 (GRCm39)	T883S	probably benign	Het
Ncaph2	T	C	15: 89,249,526 (GRCm39)	S277P	probably benign	Het
Olfm3	G	A	3: 114,916,091 (GRCm39)	W341*	probably null	Het
Or13c7e-ps1	A	C	4: 43,781,454 (GRCm39)	M292R	probably damaging	Het
Or1p1	A	C	11: 74,180,146 (GRCm39)	I225L	probably damaging	Het
Or5b119	A	G	19: 13,457,368 (GRCm39)	S65P	probably damaging	Het
Or5d46	T	A	2: 88,169,928 (GRCm39)	N6K		Het
Or5g26	T	A	2: 85,494,608 (GRCm39)	I57F	probably benign	Het
Or6z1	C	A	7: 6,504,999 (GRCm39)	M75I	probably benign	Het
Pcnx4	T	C	12: 72,603,039 (GRCm39)	Y434H	probably damaging	Het
Ptpn14	T	A	1: 189,583,484 (GRCm39)	M777K	probably benign	Het
Rasef	A	G	4: 73,688,102 (GRCm39)	I17T	possibly damaging	Het
Rptor	A	T	11: 119,781,940 (GRCm39)	D1089V	probably benign	Het
Scel	A	T	14: 103,809,442 (GRCm39)		probably null	Het
Scfd2	A	T	5: 74,386,004 (GRCm39)	L605Q	probably damaging	Het
Son	A	G	16: 91,456,440 (GRCm39)	E1729G	probably damaging	Het
Spata31e2	C	G	1: 26,722,820 (GRCm39)	E787Q	probably benign	Het
Spout1	A	G	2: 30,065,813 (GRCm39)	Y243H	probably benign	Het
Syne1	A	G	10: 5,276,601 (GRCm39)	F1765S	possibly damaging	Het
Tet2	A	T	3: 133,191,803 (GRCm39)	V877E	possibly damaging	Het
Txn2	T	C	15: 77,812,289 (GRCm39)		probably benign	Het
Vmn1r158	T	C	7: 22,489,331 (GRCm39)	I293V	possibly damaging	Het
Vmn1r81	G	A	7: 11,994,449 (GRCm39)	T53I	probably damaging	Het
Vps18	T	C	2: 119,127,553 (GRCm39)	F792S	probably damaging	Het
Vps25	A	G	11: 101,146,853 (GRCm39)	D91G	probably null	Het
Wdr26	G	A	1: 181,015,224 (GRCm39)	L396F	possibly damaging	Het
Zfp1005	T	A	2: 150,111,304 (GRCm39)	C665S	possibly damaging	Het
Zfp26	T	C	9: 20,347,861 (GRCm39)	E901G	possibly damaging	Het

Other mutations in Gm10518

Allele	Source	Chr	Coord	Type	Predicted Effect
R1686:Gm10518	UTSW	1	179,631,357 (GRCm39)	nonsense	probably null
R1927:Gm10518	UTSW	1	179,631,210 (GRCm39)	utr 5 prime	probably benign
R2025:Gm10518	UTSW	1	179,631,483 (GRCm39)	unclassified	probably benign
R4050:Gm10518	UTSW	1	179,631,378 (GRCm39)	unclassified	probably benign
R4948:Gm10518	UTSW	1	179,631,477 (GRCm39)	unclassified	probably benign
R7270:Gm10518	UTSW	1	179,630,949 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TATGTAACTAACGCCCGAGC -3'
(R):5'- GTTTGAAAATTCCCGCGGAGTC -3'

Sequencing Primer
(F):5'- GGTTCCCCACCCTACCTGAG -3'
(R):5'- GAACCCTCGCGAGAAGTC -3'

Posted On

2022-10-06