Mutagenetix > Incidental Mutation

Incidental Mutation 'R7858:Gm1123'

607340

Institutional Source

Beutler Lab

Gene Symbol

Gm1123

Ensembl Gene

ENSMUSG00000044860

Gene Name

predicted gene 1123

Synonyms

LOC382097

MMRRC Submission

045911-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.194) question?

Stock #

R7858 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

98889018-98917743 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 98896107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 258 (N258D)

Ref Sequence

ENSEMBL: ENSMUSP00000076020 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076730]

AlphaFold

Q1RME4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000076730
AA Change: N258D

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076020
Gene: ENSMUSG00000044860
AA Change: N258D

Domain	Start	End	E-Value	Type
low complexity region	3	10	N/A	INTRINSIC
IGv	36	123	1.85e-7	SMART
IG	151	264	3.33e-9	SMART
IGv	286	373	6.02e-7	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (32/32)

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	T	C	1: 66,877,483 (GRCm39)	E356G	probably benign	Het
Adamtsl3	T	C	7: 82,099,371 (GRCm39)	L175P	probably damaging	Het
Apon	T	C	10: 128,090,328 (GRCm39)	I2T	probably benign	Het
Ccny	T	A	18: 9,386,782 (GRCm39)	D61V	probably damaging	Het
Cp	A	G	3: 20,025,219 (GRCm39)	T393A	probably benign	Het
Cspg5	T	C	9: 110,080,134 (GRCm39)	L434P	probably damaging	Het
Cyld	T	A	8: 89,436,616 (GRCm39)	I302N	probably damaging	Het
Ercc4	T	C	16: 12,943,169 (GRCm39)	S283P	probably damaging	Het
Frem3	T	A	8: 81,338,350 (GRCm39)	Y214*	probably null	Het
Gm9821	A	T	2: 91,776,351 (GRCm39)	H101L	unknown	Het
Il36b	T	A	2: 24,044,626 (GRCm39)	C9S	probably benign	Het
Kti12	A	C	4: 108,705,443 (GRCm39)	E119A	probably benign	Het
Kti12	G	T	4: 108,705,444 (GRCm39)	E119D	probably benign	Het
Mansc1	T	C	6: 134,587,377 (GRCm39)	T267A	probably benign	Het
Mtor	A	G	4: 148,539,103 (GRCm39)	D200G	probably damaging	Het
Muc5ac	G	C	7: 141,357,166 (GRCm39)	V1148L	possibly damaging	Het
Mycbp2	C	A	14: 103,393,741 (GRCm39)	R2940L	probably damaging	Het
Myh7	A	G	14: 55,227,500 (GRCm39)	F312L	probably benign	Het
Or4c31	G	A	2: 88,292,056 (GRCm39)	C143Y	probably damaging	Het
Prkdc	T	A	16: 15,507,141 (GRCm39)	S874T	probably benign	Het
Prmt7	T	G	8: 106,971,320 (GRCm39)	I452S	possibly damaging	Het
Setx	A	C	2: 29,051,562 (GRCm39)	D2038A	probably damaging	Het
Spen	A	T	4: 141,215,442 (GRCm39)		probably null	Het
Sycp1	T	C	3: 102,806,273 (GRCm39)	K473E	probably benign	Het
Uggt1	A	G	1: 36,195,339 (GRCm39)	F1290S	probably damaging	Het
Unc13b	T	G	4: 43,176,285 (GRCm39)	V2371G	unknown	Het
Vmn2r4	C	T	3: 64,317,226 (GRCm39)	V171I	probably benign	Het
Zfp35	T	C	18: 24,136,897 (GRCm39)	C414R	probably damaging	Het
Zfp704	A	G	3: 9,509,217 (GRCm39)		probably null	Het
Zfp758	A	G	17: 22,594,359 (GRCm39)	T282A	probably benign	Het
Zfp961	T	C	8: 72,704,949 (GRCm39)	V4A	unknown	Het

Other mutations in Gm1123

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01759:Gm1123	APN	9	98,905,307 (GRCm39)	missense	probably benign
IGL02502:Gm1123	APN	9	98,891,443 (GRCm39)	nonsense	probably null
R0091:Gm1123	UTSW	9	98,905,405 (GRCm39)	missense	possibly damaging	0.80
R4628:Gm1123	UTSW	9	98,896,289 (GRCm39)	missense	probably damaging	0.98
R4668:Gm1123	UTSW	9	98,891,426 (GRCm39)	missense	probably damaging	1.00
R4754:Gm1123	UTSW	9	98,905,294 (GRCm39)	critical splice donor site	probably null
R4754:Gm1123	UTSW	9	98,905,293 (GRCm39)	splice site	probably null
R4778:Gm1123	UTSW	9	98,900,560 (GRCm39)	missense	probably benign
R4840:Gm1123	UTSW	9	98,900,622 (GRCm39)	missense	probably damaging	0.98
R4905:Gm1123	UTSW	9	98,891,369 (GRCm39)	missense	probably benign	0.16
R5645:Gm1123	UTSW	9	98,896,244 (GRCm39)	missense	probably benign	0.41
R5685:Gm1123	UTSW	9	98,891,486 (GRCm39)	critical splice acceptor site	probably null
R7390:Gm1123	UTSW	9	98,893,033 (GRCm39)	missense	probably benign	0.19
R8196:Gm1123	UTSW	9	98,905,309 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTGAGGATGTTACAATACCCCAAAG -3'
(R):5'- TGCAGACAAAATTCATGACGACG -3'

Sequencing Primer
(F):5'- GTGTCAGAACCTTCCCTAGTAAG -3'
(R):5'- ATTCATGACGACGTCTATCCAG -3'

Posted On

2019-12-20