Mutagenetix > Incidental Mutation

Incidental Mutation 'R9452:Fam98c'

714331

Institutional Source

Beutler Lab

Gene Symbol

Fam98c

Ensembl Gene

ENSMUSG00000030590

Gene Name

family with sequence similarity 98, member C

Synonyms

B230110F21Rik, 1110006G06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R9452 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

28851935-28855653 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 28852901 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 44 (V44A)

Ref Sequence

ENSEMBL: ENSMUSP00000120165 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032811] [ENSMUST00000094617] [ENSMUST00000123416] [ENSMUST00000134176] [ENSMUST00000159351] [ENSMUST00000159975] [ENSMUST00000160194] [ENSMUST00000160396] [ENSMUST00000161522] [ENSMUST00000164589] [ENSMUST00000203070] [ENSMUST00000203380] [ENSMUST00000204194] [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: 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
AA Change: V118A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000122992
Gene: ENSMUSG00000030590
AA Change: V118A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134176
AA Change: V44A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120165
Gene: ENSMUSG00000030590
AA Change: V44A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144795

SMART Domains

Protein: ENSMUSP00000121796
Gene: ENSMUSG00000030590

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

SMART Domains

Protein: ENSMUSP00000117500
Gene: ENSMUSG00000030590
AA Change: V114A

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

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: 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: 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: ENSMUST00000164589
AA Change: V246A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000131477
Gene: ENSMUSG00000030590
AA Change: V246A

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

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

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

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	A	G	5: 24,612,382 (GRCm39)	Y564C	probably null	Het
Ablim2	A	T	5: 36,015,198 (GRCm39)	D470V	probably benign	Het
Actr10	T	C	12: 71,006,818 (GRCm39)		probably null	Het
Adam4	T	A	12: 81,467,071 (GRCm39)	I517L	probably benign	Het
Ank1	C	A	8: 23,622,429 (GRCm39)	D1659E	probably benign	Het
Arnt2	A	G	7: 83,933,334 (GRCm39)	V308A	probably benign	Het
Avl9	T	C	6: 56,706,726 (GRCm39)	V184A	probably damaging	Het
Bag1	A	T	4: 40,947,733 (GRCm39)	I157N	probably benign	Het
Bicc1	A	T	10: 70,792,981 (GRCm39)	D224E	probably damaging	Het
C2	T	G	17: 35,095,319 (GRCm39)	I209L	probably benign	Het
Cacna1e	A	T	1: 154,289,720 (GRCm39)		probably null	Het
Capn1	T	C	19: 6,057,287 (GRCm39)	Y387C	probably damaging	Het
Cebpa	A	G	7: 34,819,033 (GRCm39)	I64V	possibly damaging	Het
Celf4	T	G	18: 25,624,219 (GRCm39)	M436L	probably benign	Het
Cfb	C	A	17: 35,078,084 (GRCm39)	V436L	probably benign	Het
Ciart	C	T	3: 95,788,527 (GRCm39)	C104Y	probably benign	Het
Cmya5	A	G	13: 93,232,394 (GRCm39)	L898P	probably benign	Het
Cyp2c68	A	T	19: 39,687,833 (GRCm39)	M388K	possibly damaging	Het
Cypt12	T	C	3: 18,002,843 (GRCm39)	V72A	probably benign	Het
Dlec1	A	G	9: 118,941,541 (GRCm39)	D309G	probably benign	Het
Dnah1	A	G	14: 31,018,448 (GRCm39)	V1394A	probably benign	Het
Dpp3	A	C	19: 4,973,750 (GRCm39)	S108A	probably benign	Het
Eif5b	C	T	1: 38,084,861 (GRCm39)	P903S	probably damaging	Het
Erc2	A	G	14: 27,733,690 (GRCm39)	D580G	probably damaging	Het
Fer	A	G	17: 64,231,067 (GRCm39)	K273E	probably benign	Het
Gzme	T	A	14: 56,355,854 (GRCm39)	I153F	probably benign	Het
Ice1	A	T	13: 70,744,462 (GRCm39)	N2040K	probably damaging	Het
Ifi214	G	T	1: 173,356,894 (GRCm39)	Q70K	possibly damaging	Het
Itpripl1	C	A	2: 126,983,334 (GRCm39)	E263*	probably null	Het
Kat8	A	G	7: 127,524,421 (GRCm39)	K433R	probably benign	Het
Klra5	C	A	6: 129,883,686 (GRCm39)	W147L	possibly damaging	Het
Lefty1	A	T	1: 180,762,849 (GRCm39)	T59S	probably benign	Het
Lig3	C	T	11: 82,681,448 (GRCm39)	T481M	probably damaging	Het
Lrfn1	A	T	7: 28,159,157 (GRCm39)	I359F	probably damaging	Het
Lrp1b	A	T	2: 41,850,726 (GRCm39)	C90*	probably null	Het
Micall2	T	G	5: 139,703,311 (GRCm39)		probably null	Het
Mtmr3	G	T	11: 4,441,037 (GRCm39)	L539I	probably damaging	Het
Obscn	C	A	11: 58,924,962 (GRCm39)		probably null	Het
Olfml3	T	C	3: 103,643,575 (GRCm39)	T269A	probably benign	Het
Oprl1	C	T	2: 181,360,454 (GRCm39)	A170V	possibly damaging	Het
Or4c112	C	T	2: 88,854,234 (GRCm39)	G38R		Het
Pdgfrb	G	A	18: 61,198,798 (GRCm39)	V319M	possibly damaging	Het
Pirb	G	A	7: 3,720,617 (GRCm39)	R294C	possibly damaging	Het
Piwil1	T	C	5: 128,824,957 (GRCm39)	S552P	probably benign	Het
Pkd2	T	C	5: 104,614,841 (GRCm39)	F228L	probably damaging	Het
Pkhd1	T	A	1: 20,682,953 (GRCm39)	D83V	possibly damaging	Het
Plcl1	A	G	1: 55,734,992 (GRCm39)	D111G	probably damaging	Het
Plpp2	A	G	10: 79,363,702 (GRCm39)	S162P	probably damaging	Het
Prex2	T	A	1: 11,256,151 (GRCm39)	I1174K	probably benign	Het
Prkdc	T	A	16: 15,485,465 (GRCm39)	Y431N	possibly damaging	Het
Pter	A	G	2: 12,985,111 (GRCm39)	D147G	probably benign	Het
Rbsn	T	C	6: 92,178,745 (GRCm39)	D134G	possibly damaging	Het
Rnf220	T	C	4: 117,153,339 (GRCm39)	D299G	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,133 (GRCm39)		probably benign	Het
Scn2a	G	A	2: 65,595,163 (GRCm39)	S2004N	probably benign	Het
Slc7a4	T	A	16: 17,391,271 (GRCm39)	N593I	probably damaging	Het
Spata31e3	T	C	13: 50,400,808 (GRCm39)	H506R	possibly damaging	Het
Speg	T	C	1: 75,399,152 (GRCm39)	S2200P	probably benign	Het
Thoc2l	T	A	5: 104,669,610 (GRCm39)	N1377K	probably benign	Het
Tle1	A	T	4: 72,040,596 (GRCm39)	H654Q	probably benign	Het
Ttll6	G	A	11: 96,026,588 (GRCm39)	R124H	probably damaging	Het
Vmn2r111	A	G	17: 22,778,132 (GRCm39)	C516R	probably damaging	Het
Vmn2r89	T	C	14: 51,693,288 (GRCm39)	S213P	probably damaging	Het
Vmn2r-ps158	A	T	7: 42,697,257 (GRCm39)	L771F	possibly damaging	Het
Washc4	A	G	10: 83,396,387 (GRCm39)	N399S	probably benign	Het
Wdr37	G	A	13: 8,897,663 (GRCm39)	H198Y		Het
Zfp407	A	G	18: 84,580,579 (GRCm39)	L178P	probably benign	Het
Zfp882	C	T	8: 72,668,831 (GRCm39)	H553Y	probably damaging	Het
Zfp956	T	C	6: 47,940,370 (GRCm39)	V243A	probably benign	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
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
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'- TAAAAGCCAAGGATGCCCAG -3'
(R):5'- GATCTTGACAGTCCCTCCTG -3'

Sequencing Primer
(F):5'- AGGATGCCCAGACTCTCC -3'
(R):5'- GACAGTCCCTCCTGACCCTC -3'

Posted On

2022-06-15