Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02603:Fam98c'

300143

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam98c

Ensembl Gene

ENSMUSG00000030590

Gene Name

family with sequence similarity 98, member C

Synonyms

B230110F21Rik, 1110006G06Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

IGL02603

Quality Score

Status

Chromosome

Chromosomal Location

28851935-28855653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28853873 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 232 (S232P)

Ref Sequence

ENSEMBL: ENSMUSP00000131477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032811] [ENSMUST00000048923] [ENSMUST00000094617] [ENSMUST00000123416] [ENSMUST00000134176] [ENSMUST00000164589] [ENSMUST00000203070] [ENSMUST00000203380] [ENSMUST00000204194] [ENSMUST00000159351] [ENSMUST00000159975] [ENSMUST00000160396] [ENSMUST00000161522] [ENSMUST00000204845] [ENSMUST00000205027]

AlphaFold

E9PYD1

Predicted Effect

probably benign
Transcript: ENSMUST00000032811

SMART Domains

Protein: ENSMUSP00000032811
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	51	65	N/A	INTRINSIC
Blast:RasGEFN	66	162	1e-30	BLAST
low complexity region	163	188	N/A	INTRINSIC
RasGEF	197	433	2.92e-70	SMART
C1	541	590	4.12e-12	SMART
low complexity region	600	609	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048923

SMART Domains

Protein: ENSMUSP00000046216
Gene: ENSMUSG00000037239

Domain	Start	End	E-Value	Type
Pfam:WH1	1	110	1.6e-13	PFAM
low complexity region	120	130	N/A	INTRINSIC
low complexity region	142	153	N/A	INTRINSIC
Pfam:Sprouty	292	400	7.1e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000094617

SMART Domains

Protein: ENSMUSP00000092200
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	51	65	N/A	INTRINSIC
Blast:RasGEFN	66	163	2e-29	BLAST
low complexity region	164	189	N/A	INTRINSIC
RasGEF	198	434	2.92e-70	SMART
C1	542	596	1.81e-8	SMART
low complexity region	606	615	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123416

SMART Domains

Protein: ENSMUSP00000122992
Gene: ENSMUSG00000030590

Domain	Start	End	E-Value	Type
Pfam:DUF2465	6	125	8.9e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123545

Predicted Effect

probably damaging
Transcript: ENSMUST00000134176
AA Change: S30P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000120165
Gene: ENSMUSG00000030590
AA Change: S30P

Domain	Start	End	E-Value	Type
Pfam:DUF2465	1	125	5.9e-45	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138084

Predicted Effect

probably damaging
Transcript: ENSMUST00000164589
AA Change: S232P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131477
Gene: ENSMUSG00000030590
AA Change: S232P

Domain	Start	End	E-Value	Type
Pfam:DUF2465	8	327	3.8e-95	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000144795
AA Change: S202P

SMART Domains

Protein: ENSMUSP00000121796
Gene: ENSMUSG00000030590
AA Change: S202P

Domain	Start	End	E-Value	Type
Pfam:DUF2465	5	175	1.7e-30	PFAM
Pfam:DUF2465	172	213	1.3e-14	PFAM
Pfam:DUF2465	211	242	6.9e-13	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147561

Predicted Effect

probably benign
Transcript: ENSMUST00000203070

SMART Domains

Protein: ENSMUSP00000145352
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
RasGEFN	48	172	2.6e-3	SMART
RasGEF	197	504	1.8e-20	SMART
C1	449	498	2.1e-14	SMART
low complexity region	508	517	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203380

SMART Domains

Protein: ENSMUSP00000144753
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
RasGEFN	48	172	2.6e-3	SMART
RasGEF	197	364	3e-25	SMART
C1	472	521	2.1e-14	SMART
low complexity region	531	540	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184073

Predicted Effect

probably benign
Transcript: ENSMUST00000204194

SMART Domains

Protein: ENSMUSP00000145259
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
RasGEFN	48	172	2.6e-3	SMART
RasGEF	85	336	1e-7	SMART
C1	444	493	2.1e-14	SMART
low complexity region	503	512	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150431

Predicted Effect

probably benign
Transcript: ENSMUST00000159351

SMART Domains

Protein: ENSMUSP00000124183
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	51	65	N/A	INTRINSIC
Blast:RasGEFN	66	162	7e-31	BLAST
low complexity region	163	188	N/A	INTRINSIC
RasGEF	197	433	2.92e-70	SMART
Blast:RasGEF	449	553	7e-25	BLAST
SCOP:d1ptq__	541	573	1e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000159975

SMART Domains

Protein: ENSMUSP00000125137
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	51	65	N/A	INTRINSIC
Blast:RasGEFN	66	162	1e-30	BLAST
low complexity region	163	188	N/A	INTRINSIC
RasGEF	197	433	2.92e-70	SMART
C1	541	595	1.81e-8	SMART
low complexity region	605	614	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160396

Predicted Effect

probably benign
Transcript: ENSMUST00000161522

SMART Domains

Protein: ENSMUSP00000123718
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
low complexity region	51	65	N/A	INTRINSIC
Blast:RasGEFN	66	165	7e-32	BLAST
RasGEF	183	419	2.92e-70	SMART
C1	527	576	4.12e-12	SMART
low complexity region	586	595	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000153251

SMART Domains

Protein: ENSMUSP00000117500
Gene: ENSMUSG00000030590

Domain	Start	End	E-Value	Type
Pfam:DUF2465	1	114	1.9e-22	PFAM
Pfam:DUF2465	111	196	1.1e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205672

Predicted Effect

probably benign
Transcript: ENSMUST00000204845

SMART Domains

Protein: ENSMUSP00000144774
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
RasGEFN	48	172	2.6e-3	SMART
RasGEF	197	399	8.7e-49	SMART
C1	507	556	2.1e-14	SMART
low complexity region	566	575	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205027

SMART Domains

Protein: ENSMUSP00000145186
Gene: ENSMUSG00000030589

Domain	Start	End	E-Value	Type
low complexity region	15	29	N/A	INTRINSIC
RasGEFN	48	172	2.6e-3	SMART
C1	352	401	2.1e-14	SMART
low complexity region	411	420	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,637,071 (GRCm39)	S3457P	possibly damaging	Het
Aipl1	A	G	11: 71,927,526 (GRCm39)	I63T	possibly damaging	Het
Atp7b	C	T	8: 22,484,792 (GRCm39)	V1307M	possibly damaging	Het
Cdc20b	T	C	13: 113,215,289 (GRCm39)	S286P	possibly damaging	Het
Eif2ak4	G	A	2: 118,280,807 (GRCm39)	R946H	probably damaging	Het
Glt1d1	G	T	5: 127,709,409 (GRCm39)	R21L	probably damaging	Het
Gm5422	A	G	10: 31,125,436 (GRCm39)		noncoding transcript	Het
Haao	T	A	17: 84,142,970 (GRCm39)	D125V	probably benign	Het
Hipk1	A	G	3: 103,657,588 (GRCm39)	V832A	probably damaging	Het
Lrrtm4	C	A	6: 79,999,967 (GRCm39)	Q460K	possibly damaging	Het
Lyar	A	G	5: 38,391,405 (GRCm39)	N368S	probably damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Lztr1	C	A	16: 17,327,550 (GRCm39)	N84K	possibly damaging	Het
Ndufa8	C	A	2: 35,934,470 (GRCm39)	C36F	probably damaging	Het
Or11g24	T	A	14: 50,662,657 (GRCm39)	V227E	probably damaging	Het
Or2n1d	T	A	17: 38,646,404 (GRCm39)	S119T	probably damaging	Het
Psg19	A	G	7: 18,526,693 (GRCm39)	S146P	probably benign	Het
Rbm12	C	T	2: 155,937,480 (GRCm39)		probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Spopfm3	A	T	3: 94,105,744 (GRCm39)	T21S	possibly damaging	Het

Other mutations in Fam98c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:Fam98c	APN	7	28,852,278 (GRCm39)	unclassified	probably benign
IGL02638:Fam98c	APN	7	28,852,187 (GRCm39)	missense	probably damaging	1.00
R0147:Fam98c	UTSW	7	28,852,146 (GRCm39)	nonsense	probably null
R1248:Fam98c	UTSW	7	28,852,265 (GRCm39)	missense	probably damaging	1.00
R4627:Fam98c	UTSW	7	28,854,693 (GRCm39)	missense	possibly damaging	0.71
R4628:Fam98c	UTSW	7	28,854,693 (GRCm39)	missense	possibly damaging	0.71
R4629:Fam98c	UTSW	7	28,854,693 (GRCm39)	missense	possibly damaging	0.71
R4688:Fam98c	UTSW	7	28,854,666 (GRCm39)	missense	probably damaging	1.00
R5247:Fam98c	UTSW	7	28,855,126 (GRCm39)	missense	possibly damaging	0.84
R6254:Fam98c	UTSW	7	28,853,942 (GRCm39)	missense	probably damaging	1.00
R6354:Fam98c	UTSW	7	28,852,272 (GRCm39)	missense	probably damaging	1.00
R6388:Fam98c	UTSW	7	28,854,728 (GRCm39)	missense	probably damaging	0.98
R6433:Fam98c	UTSW	7	28,855,553 (GRCm39)	critical splice donor site	probably null
R7058:Fam98c	UTSW	7	28,855,308 (GRCm39)	critical splice donor site	probably null
R7626:Fam98c	UTSW	7	28,852,248 (GRCm39)	missense	probably damaging	1.00
R8691:Fam98c	UTSW	7	28,852,889 (GRCm39)	missense	probably damaging	0.98
R9128:Fam98c	UTSW	7	28,854,115 (GRCm39)	missense
R9452:Fam98c	UTSW	7	28,852,901 (GRCm39)	missense	probably benign	0.00
R9658:Fam98c	UTSW	7	28,852,206 (GRCm39)	missense	probably damaging	1.00
Z1186:Fam98c	UTSW	7	28,855,192 (GRCm39)	missense	probably benign
Z1186:Fam98c	UTSW	7	28,852,883 (GRCm39)	missense	probably benign	0.00
Z1186:Fam98c	UTSW	7	28,855,565 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16