Mutagenetix > Incidental Mutation

Incidental Mutation 'R4963:Fam98a'

383758

Institutional Source

Beutler Lab

Gene Symbol

Fam98a

Ensembl Gene

ENSMUSG00000002017

Gene Name

family with sequence similarity 98, member A

Synonyms

2810405J04Rik

MMRRC Submission

042560-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.704) question?

Stock #

R4963 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75537086-75551946 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75538982 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 285 (S285P)

Ref Sequence

ENSEMBL: ENSMUSP00000108126 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112507]

AlphaFold

Q3TJZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000112507
AA Change: S285P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108126
Gene: ENSMUSG00000002017
AA Change: S285P

Domain	Start	End	E-Value	Type
Pfam:DUF2465	11	328	1.1e-137	PFAM
low complexity region	334	396	N/A	INTRINSIC
low complexity region	401	441	N/A	INTRINSIC
low complexity region	448	481	N/A	INTRINSIC
low complexity region	485	501	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140729

Meta Mutation Damage Score

0.0921

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

97% (74/76)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	A	T	17: 48,163,414	I133N	probably benign	Het
Abca15	T	C	7: 120,360,919	S642P	probably damaging	Het
Abcg5	G	T	17: 84,660,141	Y410*	probably null	Het
Anapc7	T	A	5: 122,422,606	M10K	probably damaging	Het
Ank2	G	A	3: 127,032,096	T418M	probably benign	Het
Arhgap17	T	C	7: 123,308,360	R260G	possibly damaging	Het
Atp1a3	T	C	7: 24,994,626	T381A	probably damaging	Het
Cep89	T	G	7: 35,403,152	S97A	probably benign	Het
Cyp2j11	T	C	4: 96,316,382	D309G	probably damaging	Het
Dcbld2	T	C	16: 58,465,782	I768T	probably benign	Het
Dgke	A	G	11: 89,050,802	V249A	possibly damaging	Het
Dnah9	T	C	11: 66,084,611		probably null	Het
Dnajc3	C	A	14: 118,978,173	H502N	probably benign	Het
Dsp	A	G	13: 38,197,870	T2265A	probably damaging	Het
Enpp6	A	G	8: 47,065,461	D208G	probably benign	Het
Evc	C	T	5: 37,322,049		probably null	Het
Glp2r	G	T	11: 67,757,593	Y94*	probably null	Het
Gm15293	C	T	8: 21,201,758	S52F	probably damaging	Het
Gsdmc	A	G	15: 63,804,380		probably null	Het
Gtpbp4	C	A	13: 8,985,217	D369Y	probably damaging	Het
H2-M1	A	G	17: 36,671,738	Y77H	probably benign	Het
Irx2	T	C	13: 72,632,610	V466A	possibly damaging	Het
Kcnh4	C	A	11: 100,752,253	W396L	probably damaging	Het
Kif27	T	C	13: 58,328,994	D614G	possibly damaging	Het
Kirrel2	C	A	7: 30,450,801		probably null	Het
Lcn5	A	G	2: 25,661,414	I182V	probably benign	Het
Ldb3	T	G	14: 34,566,858	S252R	probably damaging	Het
March8	G	A	6: 116,386,271		probably benign	Het
Mdn1	C	A	4: 32,756,512	Q4735K	probably benign	Het
Mfrp	A	T	9: 44,103,264	H236L	probably benign	Het
Mlph	A	G	1: 90,939,390	D378G	probably damaging	Het
Msi1	T	A	5: 115,450,885	Y320N	probably damaging	Het
Mtmr11	T	C	3: 96,163,250		probably benign	Het
Mtpap	T	C	18: 4,375,638	V6A	probably benign	Het
Nedd1	C	A	10: 92,695,031	D399Y	probably damaging	Het
Ninl	A	G	2: 150,939,909	Y234H	probably benign	Het
Nkx3-1	G	A	14: 69,190,918	G72S	probably benign	Het
Nle1	A	G	11: 82,904,937	V228A	probably benign	Het
Npy4r	T	A	14: 34,147,016	D105V	probably damaging	Het
Olfr1366	A	G	13: 21,537,982	Y8H	probably damaging	Het
Palld	C	T	8: 61,703,210	V464M	probably damaging	Het
Pclo	T	C	5: 14,669,221	V1124A	unknown	Het
Pex1	T	A	5: 3,609,924	M476K	probably benign	Het
Pkhd1l1	G	A	15: 44,504,025	S773N	probably benign	Het
Polrmt	A	G	10: 79,746,551	M1T	probably null	Het
Prmt9	A	G	8: 77,555,729	D85G	probably damaging	Het
Ptpn12	T	A	5: 21,015,708		probably null	Het
Rbm19	T	A	5: 120,141,566	M766K	probably damaging	Het
Rdh11	A	G	12: 79,188,606	V72A	probably benign	Het
Rxfp3	A	G	15: 11,036,281	V335A	probably damaging	Het
Sema6a	T	C	18: 47,298,251	K127E	possibly damaging	Het
Slc5a1	C	T	5: 33,160,782	T593I	probably benign	Het
Slco1a1	A	G	6: 141,923,099	F380L	probably benign	Het
Smc2	T	C	4: 52,450,826	S215P	probably damaging	Het
Smyd2	A	T	1: 189,882,188	V381E	probably damaging	Het
Smyd4	C	T	11: 75,382,294	S60L	probably benign	Het
Spata18	T	A	5: 73,678,993	V419E	probably damaging	Het
Terb1	A	G	8: 104,482,318	L376S	probably damaging	Het
Timd2	T	C	11: 46,682,790	E129G	possibly damaging	Het
Topbp1	C	A	9: 103,320,605	T461K	probably benign	Het
Tpp2	G	A	1: 43,992,268	R1069Q	probably damaging	Het
Ttn	A	G	2: 76,753,945	V22273A	probably damaging	Het
Tulp4	G	A	17: 6,198,813	E36K	probably damaging	Het
Uqcrfs1	A	T	13: 30,540,763	F265I	probably damaging	Het
Vmn2r107	A	T	17: 20,375,141	Q652L	probably damaging	Het
Vwf	C	T	6: 125,667,483	R2434*	probably null	Het
Wdhd1	A	G	14: 47,268,689	V256A	possibly damaging	Het
Zfp442	A	T	2: 150,408,495	C439S	probably damaging	Het
Zfp709	A	G	8: 71,889,788	T354A	probably benign	Het
Zswim2	A	T	2: 83,925,110	I149N	probably damaging	Het

Other mutations in Fam98a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Fam98a	APN	17	75551747	missense	probably damaging	1.00
IGL00548:Fam98a	APN	17	75538818	missense	probably damaging	1.00
IGL02170:Fam98a	APN	17	75540192	critical splice acceptor site	probably null
IGL02399:Fam98a	APN	17	75538941	splice site	probably benign
IGL03062:Fam98a	APN	17	75540105	splice site	probably benign
IGL03246:Fam98a	APN	17	75538853	missense	probably damaging	0.99
R0584:Fam98a	UTSW	17	75544777	missense	probably damaging	1.00
R0594:Fam98a	UTSW	17	75538487	nonsense	probably null
R1121:Fam98a	UTSW	17	75538534	missense	unknown
R1366:Fam98a	UTSW	17	75539386	splice site	probably benign
R1387:Fam98a	UTSW	17	75538269	missense	unknown
R1424:Fam98a	UTSW	17	75540178	missense	probably damaging	1.00
R1533:Fam98a	UTSW	17	75541281	missense	probably damaging	1.00
R1651:Fam98a	UTSW	17	75547715	missense	probably benign	0.16
R2211:Fam98a	UTSW	17	75538945	critical splice donor site	probably null
R4295:Fam98a	UTSW	17	75541347	missense	probably damaging	1.00
R4350:Fam98a	UTSW	17	75541225	missense	probably damaging	1.00
R5320:Fam98a	UTSW	17	75538815	missense	probably damaging	1.00
R5383:Fam98a	UTSW	17	75538581	missense	unknown
R6031:Fam98a	UTSW	17	75539432	missense	probably damaging	0.98
R6031:Fam98a	UTSW	17	75539432	missense	probably damaging	0.98
R7058:Fam98a	UTSW	17	75538389	missense	unknown
R7182:Fam98a	UTSW	17	75539018	nonsense	probably null
R7505:Fam98a	UTSW	17	75538238	missense	unknown
R7554:Fam98a	UTSW	17	75547675	nonsense	probably null
R7566:Fam98a	UTSW	17	75547662	missense	probably damaging	1.00
R8095:Fam98a	UTSW	17	75538771	missense	probably damaging	1.00
R8467:Fam98a	UTSW	17	75544835	missense	probably damaging	1.00
R8790:Fam98a	UTSW	17	75547689	missense	possibly damaging	0.93
R8827:Fam98a	UTSW	17	75544829	missense	possibly damaging	0.74
R9375:Fam98a	UTSW	17	75541335	missense	possibly damaging	0.55
R9625:Fam98a	UTSW	17	75538479	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AATTTCATTAGGTCTGCCGCC -3'
(R):5'- TGGAACCCAGTAAACTCCTCAG -3'

Sequencing Primer
(F):5'- ATTAGGTCTGCCGCCTCTGTC -3'
(R):5'- CCAGTAAACTCCTCAGATCTTTAATC -3'

Posted On

2016-04-27