Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01576:Gm14496'

91270

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm14496

Ensembl Gene

ENSMUSG00000098505

Gene Name

predicted gene 14496

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01576

Quality Score

Status

Chromosome

Chromosomal Location

181633019-181642880 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181633164 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 49 (Y49C)

Ref Sequence

ENSEMBL: ENSMUSP00000071670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071760]

AlphaFold

K7N5U4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000071760
AA Change: Y49C

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071670
Gene: ENSMUSG00000098505
AA Change: Y49C

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:ANF_receptor	76	456	1.3e-30	PFAM
Pfam:NCD3G	508	562	1.9e-18	PFAM
Pfam:7tm_3	595	830	7.9e-55	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000089788

SMART Domains

Protein: ENSMUSP00000087221
Gene: ENSMUSG00000053277

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:ANF_receptor	76	425	2.8e-29	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184507

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,531,293 (GRCm39)		probably benign	Het
Ank3	A	G	10: 69,816,121 (GRCm39)	E541G	probably damaging	Het
Arhgef5	A	T	6: 43,250,962 (GRCm39)	D571V	probably benign	Het
Birc6	A	G	17: 74,984,365 (GRCm39)	N4459S	possibly damaging	Het
Brsk2	T	C	7: 141,535,292 (GRCm39)	I38T	possibly damaging	Het
Cacna2d4	A	T	6: 119,258,602 (GRCm39)	R563*	probably null	Het
Car7	T	A	8: 105,276,180 (GRCm39)		probably null	Het
Chml	T	C	1: 175,515,271 (GRCm39)	T217A	probably benign	Het
Dnah7b	T	G	1: 46,307,813 (GRCm39)	N3042K	probably damaging	Het
Efcab2	T	G	1: 178,264,957 (GRCm39)		probably benign	Het
Espn	T	C	4: 152,208,174 (GRCm39)	E397G	probably damaging	Het
Fam20c	A	G	5: 138,793,094 (GRCm39)	T443A	probably damaging	Het
Fam221b	T	C	4: 43,666,227 (GRCm39)	E128G	probably benign	Het
Fat4	A	G	3: 38,943,096 (GRCm39)	D663G	probably damaging	Het
Fndc10	T	A	4: 155,779,433 (GRCm39)	V159D	probably benign	Het
Gpr63	G	T	4: 25,008,445 (GRCm39)	D390Y	possibly damaging	Het
Herc2	G	A	7: 55,876,409 (GRCm39)		probably null	Het
Igdcc3	A	G	9: 65,085,152 (GRCm39)	T199A	probably damaging	Het
Ireb2	T	C	9: 54,799,794 (GRCm39)	Y412H	probably damaging	Het
Lpin3	T	C	2: 160,739,047 (GRCm39)	V285A	probably benign	Het
Mdga1	T	C	17: 30,062,101 (GRCm39)	S443G	possibly damaging	Het
Med22	C	T	2: 26,799,004 (GRCm39)		probably null	Het
Or7c70	G	T	10: 78,683,207 (GRCm39)	L181I	possibly damaging	Het
Pals2	G	A	6: 50,140,472 (GRCm39)	R164Q	probably benign	Het
Pcnt	T	G	10: 76,204,656 (GRCm39)	D2583A	probably damaging	Het
Pkn3	G	A	2: 29,977,054 (GRCm39)	R598Q	probably damaging	Het
Pnpla7	T	C	2: 24,906,575 (GRCm39)	V646A	probably damaging	Het
Podxl	A	T	6: 31,501,319 (GRCm39)	V412D	probably damaging	Het
Rad51ap1	A	T	6: 126,905,123 (GRCm39)	S129R	probably damaging	Het
Relb	T	C	7: 19,346,526 (GRCm39)	I349V	probably benign	Het
Rorb	C	T	19: 18,934,698 (GRCm39)	G224D	probably damaging	Het
Slc40a1	T	A	1: 45,948,757 (GRCm39)	I508F	probably damaging	Het
Tanc1	G	A	2: 59,628,079 (GRCm39)	V619M	probably damaging	Het
Tgm7	A	T	2: 120,931,514 (GRCm39)	D216E	probably damaging	Het
Tmem132e	A	G	11: 82,329,200 (GRCm39)	D493G	probably damaging	Het
Zfp110	T	A	7: 12,583,598 (GRCm39)	C749S	probably damaging	Het
Zscan4d	T	C	7: 10,896,519 (GRCm39)	N284D	possibly damaging	Het

Other mutations in Gm14496

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01144:Gm14496	APN	2	181,636,814 (GRCm39)	missense	probably damaging	1.00
IGL01300:Gm14496	APN	2	181,642,753 (GRCm39)	missense	probably damaging	1.00
IGL01328:Gm14496	APN	2	181,637,673 (GRCm39)	missense	probably damaging	1.00
IGL01526:Gm14496	APN	2	181,637,458 (GRCm39)	missense	probably benign	0.12
IGL01775:Gm14496	APN	2	181,642,125 (GRCm39)	missense	probably benign	0.00
IGL02020:Gm14496	APN	2	181,637,882 (GRCm39)	missense	possibly damaging	0.95
IGL02150:Gm14496	APN	2	181,633,140 (GRCm39)	missense	probably damaging	0.99
IGL02170:Gm14496	APN	2	181,638,144 (GRCm39)	missense	probably damaging	1.00
IGL02262:Gm14496	APN	2	181,637,805 (GRCm39)	missense	probably damaging	1.00
IGL02398:Gm14496	APN	2	181,637,963 (GRCm39)	missense	probably benign	0.09
IGL02414:Gm14496	APN	2	181,633,198 (GRCm39)	missense	probably benign	0.03
IGL02541:Gm14496	APN	2	181,642,186 (GRCm39)	missense	probably benign	0.29
IGL02741:Gm14496	APN	2	181,633,136 (GRCm39)	missense	probably benign
IGL02933:Gm14496	APN	2	181,642,256 (GRCm39)	missense	probably benign	0.15
IGL03214:Gm14496	APN	2	181,642,329 (GRCm39)	missense	probably damaging	1.00
FR4342:Gm14496	UTSW	2	181,637,699 (GRCm39)	missense	probably benign	0.01
R0158:Gm14496	UTSW	2	181,639,206 (GRCm39)	missense	probably benign	0.07
R0271:Gm14496	UTSW	2	181,637,747 (GRCm39)	missense	probably benign	0.44
R0611:Gm14496	UTSW	2	181,636,904 (GRCm39)	missense	probably benign	0.00
R0833:Gm14496	UTSW	2	181,638,059 (GRCm39)	missense	probably damaging	0.99
R0834:Gm14496	UTSW	2	181,637,480 (GRCm39)	missense	probably benign	0.00
R0906:Gm14496	UTSW	2	181,642,308 (GRCm39)	missense	probably damaging	0.98
R1298:Gm14496	UTSW	2	181,637,885 (GRCm39)	missense	probably benign	0.39
R1500:Gm14496	UTSW	2	181,633,026 (GRCm39)	missense	probably benign	0.21
R1585:Gm14496	UTSW	2	181,638,002 (GRCm39)	missense	possibly damaging	0.79
R1610:Gm14496	UTSW	2	181,637,972 (GRCm39)	missense	probably benign	0.01
R1627:Gm14496	UTSW	2	181,640,571 (GRCm39)	missense	probably damaging	1.00
R1635:Gm14496	UTSW	2	181,642,837 (GRCm39)	missense	possibly damaging	0.88
R1663:Gm14496	UTSW	2	181,639,230 (GRCm39)	missense	probably benign	0.03
R1792:Gm14496	UTSW	2	181,637,946 (GRCm39)	missense	probably benign	0.00
R1888:Gm14496	UTSW	2	181,641,989 (GRCm39)	nonsense	probably null
R1888:Gm14496	UTSW	2	181,641,989 (GRCm39)	nonsense	probably null
R1922:Gm14496	UTSW	2	181,642,797 (GRCm39)	missense	probably benign	0.22
R2081:Gm14496	UTSW	2	181,642,272 (GRCm39)	missense	probably damaging	1.00
R2102:Gm14496	UTSW	2	181,633,127 (GRCm39)	missense	possibly damaging	0.88
R2176:Gm14496	UTSW	2	181,633,130 (GRCm39)	missense	probably benign
R4154:Gm14496	UTSW	2	181,636,872 (GRCm39)	missense	probably benign	0.01
R4789:Gm14496	UTSW	2	181,637,577 (GRCm39)	missense	possibly damaging	0.85
R4873:Gm14496	UTSW	2	181,639,226 (GRCm39)	missense	probably damaging	0.99
R4875:Gm14496	UTSW	2	181,639,226 (GRCm39)	missense	probably damaging	0.99
R5020:Gm14496	UTSW	2	181,633,152 (GRCm39)	missense	possibly damaging	0.67
R5354:Gm14496	UTSW	2	181,642,602 (GRCm39)	missense	probably damaging	1.00
R5361:Gm14496	UTSW	2	181,642,147 (GRCm39)	missense	probably benign	0.07
R5457:Gm14496	UTSW	2	181,639,401 (GRCm39)	missense	probably damaging	0.96
R5589:Gm14496	UTSW	2	181,637,674 (GRCm39)	nonsense	probably null
R5655:Gm14496	UTSW	2	181,637,975 (GRCm39)	missense	probably benign	0.06
R6007:Gm14496	UTSW	2	181,639,323 (GRCm39)	missense	probably benign	0.37
R6123:Gm14496	UTSW	2	181,633,020 (GRCm39)	start codon destroyed	probably null	1.00
R6159:Gm14496	UTSW	2	181,638,050 (GRCm39)	missense	probably benign	0.01
R6168:Gm14496	UTSW	2	181,642,750 (GRCm39)	missense	probably damaging	1.00
R6454:Gm14496	UTSW	2	181,638,015 (GRCm39)	missense	probably damaging	0.97
R6502:Gm14496	UTSW	2	181,642,386 (GRCm39)	missense	probably benign	0.01
R6649:Gm14496	UTSW	2	181,639,269 (GRCm39)	missense	possibly damaging	0.83
R6996:Gm14496	UTSW	2	181,637,997 (GRCm39)	missense	probably damaging	1.00
R7043:Gm14496	UTSW	2	181,642,120 (GRCm39)	missense	possibly damaging	0.70
R7317:Gm14496	UTSW	2	181,637,613 (GRCm39)	missense	possibly damaging	0.56
R7354:Gm14496	UTSW	2	181,642,479 (GRCm39)	missense	probably damaging	1.00
R7565:Gm14496	UTSW	2	181,642,630 (GRCm39)	missense	probably damaging	0.99
R7565:Gm14496	UTSW	2	181,633,050 (GRCm39)	missense	possibly damaging	0.84
R7669:Gm14496	UTSW	2	181,637,711 (GRCm39)	missense	possibly damaging	0.95
R7828:Gm14496	UTSW	2	181,633,171 (GRCm39)	nonsense	probably null
R7870:Gm14496	UTSW	2	181,637,906 (GRCm39)	missense	probably benign	0.09
R8006:Gm14496	UTSW	2	181,637,669 (GRCm39)	missense	probably benign	0.03
R8379:Gm14496	UTSW	2	181,642,275 (GRCm39)	missense	probably damaging	0.99
R9174:Gm14496	UTSW	2	181,642,797 (GRCm39)	missense	possibly damaging	0.95
R9416:Gm14496	UTSW	2	181,640,647 (GRCm39)	missense	probably damaging	1.00
R9429:Gm14496	UTSW	2	181,637,934 (GRCm39)	missense	possibly damaging	0.60
R9463:Gm14496	UTSW	2	181,642,256 (GRCm39)	missense	probably benign	0.15
R9499:Gm14496	UTSW	2	181,638,179 (GRCm39)	missense	probably benign	0.00
R9581:Gm14496	UTSW	2	181,642,047 (GRCm39)	missense	probably benign	0.10
X0058:Gm14496	UTSW	2	181,637,779 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-09