Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02162:Gm20547'

282516

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm20547

Ensembl Gene

ENSMUSG00000092511

Gene Name

predicted gene 20547

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02162

Quality Score

Status

Chromosome

Chromosomal Location

35075388-35101018 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35076003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 688 (Y688F)

Ref Sequence

ENSEMBL: ENSMUSP00000025229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025229] [ENSMUST00000097343] [ENSMUST00000128767] [ENSMUST00000146299] [ENSMUST00000153400] [ENSMUST00000154526] [ENSMUST00000176203] [ENSMUST00000173357] [ENSMUST00000165953] [ENSMUST00000173065]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025229
AA Change: Y688F

PolyPhen 2 Score 0.695 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025229
Gene: ENSMUSG00000090231
AA Change: Y688F

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
CCP	36	88	5.15e-1	SMART
CCP	102	157	4.62e-15	SMART
CCP	164	217	2.06e-12	SMART
VWA	267	472	1.07e-40	SMART
Tryp_SPc	480	751	2.53e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000097343

SMART Domains

Protein: ENSMUSP00000094956
Gene: ENSMUSG00000024369

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	239	N/A	INTRINSIC
RRM	259	324	7.25e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000128767
AA Change: Y686F

PolyPhen 2 Score 0.443 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000119977
Gene: ENSMUSG00000090231
AA Change: Y686F

Domain	Start	End	E-Value	Type
low complexity region	6	21	N/A	INTRINSIC
CCP	34	86	5.15e-1	SMART
CCP	100	155	4.62e-15	SMART
CCP	162	215	2.06e-12	SMART
VWA	265	470	1.07e-40	SMART
Tryp_SPc	478	749	2.53e-30	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000129891
AA Change: Y895F

SMART Domains

Protein: ENSMUSP00000120864
Gene: ENSMUSG00000092511
AA Change: Y895F

Domain	Start	End	E-Value	Type
Blast:VWA	2	77	8e-7	BLAST
Tryp_SPc	85	365	5.69e-8	SMART
CCP	310	365	4.62e-15	SMART
CCP	372	425	2.06e-12	SMART
VWA	475	680	1.07e-40	SMART
Tryp_SPc	688	959	2.53e-30	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133127

SMART Domains

Protein: ENSMUSP00000118360
Gene: ENSMUSG00000090231

Domain	Start	End	E-Value	Type
PDB:2WIN\|L	2	43	2e-20	PDB
Blast:VWA	13	44	9e-11	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000141295
AA Change: Y225F

SMART Domains

Protein: ENSMUSP00000118945
Gene: ENSMUSG00000090231
AA Change: Y225F

Domain	Start	End	E-Value	Type
Tryp_SPc	18	258	3.76e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000146299
AA Change: Y1201F

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000117677
Gene: ENSMUSG00000092511
AA Change: Y1201F

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	72	83	N/A	INTRINSIC
CCP	94	148	1.89e-11	SMART
VWA	103	311	1.74e-1	SMART
Tryp_SPc	315	547	1.49e-7	SMART
CCP	549	601	5.15e-1	SMART
CCP	615	670	4.62e-15	SMART
CCP	677	730	2.06e-12	SMART
VWA	780	985	1.07e-40	SMART
Tryp_SPc	993	1264	2.53e-30	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153400
AA Change: Y183F

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116497
Gene: ENSMUSG00000090231
AA Change: Y183F

Domain	Start	End	E-Value	Type
Tryp_SPc	1	217	2.36e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154526
AA Change: M685L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000120990
Gene: ENSMUSG00000090231
AA Change: M685L

Domain	Start	End	E-Value	Type
low complexity region	6	21	N/A	INTRINSIC
CCP	34	86	5.15e-1	SMART
CCP	100	155	4.62e-15	SMART
CCP	162	215	2.06e-12	SMART
VWA	265	470	1.07e-40	SMART
Tryp_SPc	478	711	5.03e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000176203
AA Change: M687L

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135660
Gene: ENSMUSG00000090231
AA Change: M687L

Domain	Start	End	E-Value	Type
low complexity region	8	23	N/A	INTRINSIC
CCP	36	88	5.15e-1	SMART
CCP	102	157	4.62e-15	SMART
CCP	164	217	2.06e-12	SMART
VWA	267	472	1.07e-40	SMART
Tryp_SPc	480	713	5.03e-5	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000176332
AA Change: Y220F

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174888

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173775

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184774

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174075

Predicted Effect

probably benign
Transcript: ENSMUST00000173357

SMART Domains

Protein: ENSMUSP00000134272
Gene: ENSMUSG00000024369

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	239	N/A	INTRINSIC
RRM	259	324	7.25e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165953

SMART Domains

Protein: ENSMUSP00000131195
Gene: ENSMUSG00000024369

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	239	N/A	INTRINSIC
RRM	259	324	7.25e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173065

SMART Domains

Protein: ENSMUSP00000133934
Gene: ENSMUSG00000024369

Domain	Start	End	E-Value	Type
coiled coil region	7	36	N/A	INTRINSIC
low complexity region	147	167	N/A	INTRINSIC
low complexity region	184	228	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ang5	T	C	14: 44,199,966 (GRCm39)	L10S	probably damaging	Het
Cdk5rap1	T	C	2: 154,177,489 (GRCm39)	T577A	probably damaging	Het
Clca3a1	G	T	3: 144,460,564 (GRCm39)	P297T	probably damaging	Het
Col9a2	A	T	4: 120,911,531 (GRCm39)		probably benign	Het
Ctss	A	G	3: 95,454,132 (GRCm39)	K227R	probably benign	Het
Dmxl1	G	A	18: 50,094,230 (GRCm39)	R2902Q	probably benign	Het
Dnah10	G	T	5: 124,881,810 (GRCm39)	A2862S	probably damaging	Het
Elp1	A	G	4: 56,796,502 (GRCm39)		probably null	Het
Fbxw5	C	A	2: 25,393,283 (GRCm39)	Q16K	probably damaging	Het
Fcgbp	G	A	7: 27,774,660 (GRCm39)	C78Y	probably damaging	Het
Gpaa1	T	C	15: 76,216,353 (GRCm39)		probably benign	Het
Grik2	T	C	10: 49,298,671 (GRCm39)	H63R	possibly damaging	Het
Ikbke	A	G	1: 131,201,452 (GRCm39)	S132P	possibly damaging	Het
Kirrel2	A	G	7: 30,153,089 (GRCm39)	I340T	probably benign	Het
Lipo5	A	T	19: 33,446,163 (GRCm39)		probably benign	Het
Nfkbie	T	G	17: 45,867,242 (GRCm39)		probably null	Het
Ntng1	G	T	3: 109,842,311 (GRCm39)	S154*	probably null	Het
Or6c208	C	T	10: 129,223,973 (GRCm39)	P157L	probably benign	Het
Or8b12b	A	G	9: 37,684,227 (GRCm39)	I91V	probably benign	Het
Pbld2	T	C	10: 62,907,179 (GRCm39)		probably benign	Het
Phaf1	C	T	8: 105,966,605 (GRCm39)		probably benign	Het
Plec	C	T	15: 76,064,360 (GRCm39)	M1971I	probably benign	Het
Ppp1r3a	A	T	6: 14,717,714 (GRCm39)	F1067I	probably damaging	Het
Qpctl	A	G	7: 18,878,606 (GRCm39)	F290L	possibly damaging	Het
Sorcs3	A	T	19: 48,523,970 (GRCm39)	Y288F	probably damaging	Het
St8sia3	A	G	18: 64,398,651 (GRCm39)	N37D	probably benign	Het
Vmn2r109	T	C	17: 20,774,422 (GRCm39)	D311G	probably benign	Het
Zbtb44	A	G	9: 30,964,688 (GRCm39)	I33V	probably benign	Het
Zfp267	T	C	3: 36,218,210 (GRCm39)	F78L	probably benign	Het
Zfp541	C	A	7: 15,813,393 (GRCm39)	T682K	possibly damaging	Het

Other mutations in Gm20547

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01674:Gm20547	APN	17	35,100,631 (GRCm39)	missense	probably benign	0.03
IGL02148:Gm20547	APN	17	35,079,524 (GRCm39)	missense	probably benign	0.22
IGL02542:Gm20547	APN	17	35,076,236 (GRCm39)	missense	possibly damaging	0.55
IGL02992:Gm20547	APN	17	35,076,095 (GRCm39)	missense	probably damaging	0.98
IGL03033:Gm20547	APN	17	35,078,492 (GRCm39)	missense	probably damaging	0.99
IGL03089:Gm20547	APN	17	35,080,008 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16