Mutagenetix > Incidental Mutation

Incidental Mutation 'R0147:Fam98c'

22617

Institutional Source

Beutler Lab

Gene Symbol

Fam98c

Ensembl Gene

ENSMUSG00000030590

Gene Name

family with sequence similarity 98, member C

Synonyms

B230110F21Rik, 1110006G06Rik

MMRRC Submission

038431-MU

Accession Numbers

Essential gene?

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

Stock #

R0147 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

28851935-28855653 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 28852146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 340 (R340*)

Ref Sequence

ENSEMBL: ENSMUSP00000131477 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032811] [ENSMUST00000094617] [ENSMUST00000123416] [ENSMUST00000134176] [ENSMUST00000164589] [ENSMUST00000203070] [ENSMUST00000203380] [ENSMUST00000160396] [ENSMUST00000161522] [ENSMUST00000159351] [ENSMUST00000160194] [ENSMUST00000159975] [ENSMUST00000205027] [ENSMUST00000204194] [ENSMUST00000204845]

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: 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 null
Transcript: ENSMUST00000134176
AA Change: R138*

SMART Domains

Protein: ENSMUSP00000120165
Gene: ENSMUSG00000030590
AA Change: R138*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138084

Predicted Effect

probably null
Transcript: ENSMUST00000144795
AA Change: R254*

SMART Domains

Protein: ENSMUSP00000121796
Gene: ENSMUSG00000030590
AA Change: R254*

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

probably null
Transcript: ENSMUST00000164589
AA Change: R340*

SMART Domains

Protein: ENSMUSP00000131477
Gene: ENSMUSG00000030590
AA Change: R340*

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

Predicted Effect

probably null
Transcript: ENSMUST00000153251
AA Change: R208*

SMART Domains

Protein: ENSMUSP00000117500
Gene: ENSMUSG00000030590
AA Change: R208*

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: 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

noncoding transcript
Transcript: ENSMUST00000150431

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184073

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162946

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

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: 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: ENSMUST00000160194

SMART Domains

Protein: ENSMUSP00000124908
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	8e-32	BLAST
low complexity region	163	188	N/A	INTRINSIC
RasGEF	197	423	6.73e-61	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: 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

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

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

noncoding transcript
Transcript: ENSMUST00000205672

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 94.5%
20x: 86.1%

Validation Efficiency

67% (88/131)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,639,405 (GRCm39)		probably null	Het
Abtb2	A	G	2: 103,397,480 (GRCm39)	I137V	probably benign	Het
Ank1	T	A	8: 23,613,993 (GRCm39)	N1545K	probably damaging	Het
Arl6	T	C	16: 59,439,153 (GRCm39)		probably benign	Het
Avl9	T	A	6: 56,713,487 (GRCm39)	D248E	probably benign	Het
Becn1	T	C	11: 101,192,562 (GRCm39)	E40G	probably damaging	Het
Bod1l	G	T	5: 41,976,040 (GRCm39)	A1758E	possibly damaging	Het
Btbd16	C	T	7: 130,381,324 (GRCm39)	T19I	probably damaging	Het
Casc3	T	A	11: 98,713,325 (GRCm39)	N246K	possibly damaging	Het
Celf1	G	T	2: 90,835,035 (GRCm39)		probably benign	Het
Chrm3	G	T	13: 9,928,780 (GRCm39)	N85K	probably damaging	Het
Cluh	T	A	11: 74,556,764 (GRCm39)	Y935N	probably damaging	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,802,993 (GRCm39)	D1324G	unknown	Het
Ctcfl	T	C	2: 172,960,340 (GRCm39)	D81G	possibly damaging	Het
D630003M21Rik	C	T	2: 158,044,987 (GRCm39)		probably benign	Het
Ddx39a	C	T	8: 84,449,105 (GRCm39)	R298C	possibly damaging	Het
Dnmt3b	T	G	2: 153,503,377 (GRCm39)	N9K	possibly damaging	Het
Dock8	T	C	19: 25,096,823 (GRCm39)	L577P	probably benign	Het
Drc1	A	T	5: 30,486,487 (GRCm39)	N13I	possibly damaging	Het
Eml4	T	A	17: 83,729,081 (GRCm39)	N85K	probably damaging	Het
Epb41l4a	T	C	18: 33,931,853 (GRCm39)	T581A	probably damaging	Het
Epha3	T	C	16: 63,433,307 (GRCm39)	D446G	possibly damaging	Het
Fam209	G	T	2: 172,315,900 (GRCm39)	G92C	probably damaging	Het
Fbxw10	T	G	11: 62,738,307 (GRCm39)		probably null	Het
Galr1	A	G	18: 82,423,695 (GRCm39)	L194P	probably benign	Het
Gar1	T	C	3: 129,623,122 (GRCm39)	H89R	probably damaging	Het
Gbp4	T	A	5: 105,267,362 (GRCm39)	Y519F	probably benign	Het
Gm28042	T	A	2: 119,866,944 (GRCm39)	S196T	probably benign	Het
Grid2	T	C	6: 64,510,571 (GRCm39)	Y734H	probably benign	Het
Grm6	T	A	11: 50,750,144 (GRCm39)	I466N	possibly damaging	Het
Hectd3	T	C	4: 116,854,237 (GRCm39)		probably benign	Het
Hpse2	A	C	19: 42,920,099 (GRCm39)		probably null	Het
Hspb7	T	C	4: 141,151,302 (GRCm39)	I148T	probably damaging	Het
Htr1d	C	A	4: 136,170,788 (GRCm39)	T339K	probably damaging	Het
Ip6k1	T	A	9: 107,923,093 (GRCm39)	D408E	probably damaging	Het
Irs2	A	T	8: 11,057,568 (GRCm39)	M288K	probably damaging	Het
Kansl3	A	T	1: 36,392,897 (GRCm39)	C225S	probably damaging	Het
Knop1	C	A	7: 118,445,061 (GRCm39)	R301L	probably benign	Het
Lama5	T	C	2: 179,832,199 (GRCm39)	H1714R	probably benign	Het
Mettl14	G	A	3: 123,165,043 (GRCm39)	T316I	probably damaging	Het
Mmp15	A	T	8: 96,098,945 (GRCm39)	N591Y	probably benign	Het
Mprip	T	A	11: 59,627,899 (GRCm39)	D93E	possibly damaging	Het
Mtmr14	T	A	6: 113,237,627 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,364,776 (GRCm39)	S1917P	probably benign	Het
Muc6	C	T	7: 141,238,255 (GRCm39)	C75Y	probably damaging	Het
Naip1	A	T	13: 100,563,418 (GRCm39)	H582Q	possibly damaging	Het
Nbeal2	G	A	9: 110,471,211 (GRCm39)	R264*	probably null	Het
Neb	T	C	2: 52,139,388 (GRCm39)	K140E	probably damaging	Het
Nfya	A	G	17: 48,706,026 (GRCm39)	V48A	possibly damaging	Het
Ngf	G	T	3: 102,417,119 (GRCm39)		probably benign	Het
Nsmce2	T	G	15: 59,250,806 (GRCm39)	S26A	probably damaging	Het
Or52s19	T	C	7: 103,007,613 (GRCm39)	T263A	possibly damaging	Het
Or5m13b	T	A	2: 85,754,362 (GRCm39)	I250N	possibly damaging	Het
Or7e177	T	G	9: 20,212,387 (GRCm39)	M297R	probably damaging	Het
Pax1	A	G	2: 147,215,654 (GRCm39)	S424G	probably benign	Het
Pcdhb19	A	T	18: 37,630,235 (GRCm39)	Q10L	probably benign	Het
Pdcl	T	C	2: 37,242,142 (GRCm39)	I203V	probably benign	Het
Pknox1	T	A	17: 31,823,764 (GRCm39)	N379K	probably benign	Het
Plxna1	C	T	6: 89,297,692 (GRCm39)	A1831T	possibly damaging	Het
Prodh	T	G	16: 17,895,677 (GRCm39)	Q360P	probably damaging	Het
Pygo2	T	C	3: 89,340,610 (GRCm39)	V299A	probably damaging	Het
Raf1	C	T	6: 115,609,934 (GRCm39)	G202S	probably benign	Het
Rgs11	T	A	17: 26,426,433 (GRCm39)		probably null	Het
Rmc1	C	T	18: 12,322,328 (GRCm39)	R594C	probably damaging	Het
Rnf13	A	G	3: 57,709,889 (GRCm39)	D144G	probably damaging	Het
Rtel1	T	C	2: 180,962,839 (GRCm39)	C31R	probably damaging	Het
Rubcnl	T	A	14: 75,279,898 (GRCm39)	I427K	probably damaging	Het
Sec23ip	C	T	7: 128,380,775 (GRCm39)		probably benign	Het
Slc25a26	T	A	6: 94,569,507 (GRCm39)		probably null	Het
Slc6a7	A	G	18: 61,135,183 (GRCm39)		probably benign	Het
Slco6b1	A	T	1: 96,915,562 (GRCm39)		noncoding transcript	Het
Spata17	A	G	1: 186,844,798 (GRCm39)	V111A	probably damaging	Het
Spata22	T	A	11: 73,221,979 (GRCm39)	M1K	probably null	Het
Svep1	C	T	4: 58,116,608 (GRCm39)	D881N	possibly damaging	Het
Sypl2	T	A	3: 108,126,411 (GRCm39)	N67I	possibly damaging	Het
Tasor	A	G	14: 27,193,725 (GRCm39)	D975G	probably benign	Het
Tenm3	T	C	8: 48,689,755 (GRCm39)	Y1944C	probably damaging	Het
Tm9sf4	G	T	2: 153,037,233 (GRCm39)	V365L	probably benign	Het
Tmc3	T	C	7: 83,256,950 (GRCm39)	V401A	probably damaging	Het
Trpm2	C	T	10: 77,761,659 (GRCm39)	G997D	probably damaging	Het
Unc5b	A	T	10: 60,608,076 (GRCm39)	S675T	probably damaging	Het
Vmn1r217	A	G	13: 23,298,107 (GRCm39)	M265T	probably benign	Het
Vps54	T	A	11: 21,250,259 (GRCm39)	D548E	probably benign	Het
Wdfy3	A	G	5: 102,065,277 (GRCm39)	V1297A	probably benign	Het
Wdr46	T	A	17: 34,159,997 (GRCm39)	F70I	probably benign	Het
Zdbf2	C	T	1: 63,343,165 (GRCm39)	Q515*	probably null	Het
Zfp710	T	A	7: 79,731,721 (GRCm39)	C299*	probably null	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
IGL02603:Fam98c	APN	7	28,853,873 (GRCm39)	missense	probably damaging	1.00
IGL02638:Fam98c	APN	7	28,852,187 (GRCm39)	missense	probably damaging	1.00
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

Predicted Primers

PCR Primer
(F):5'- AACACGGTTCATAGTGTTGAGTGGC -3'
(R):5'- AATCAACAAGGTGGGCACACCTGG -3'

Sequencing Primer
(F):5'- GTGGCGGCTGGGTGTAG -3'
(R):5'- atcctcctgccactgcc -3'

Posted On

2013-04-16