Mutagenetix > Incidental Mutation

Incidental Mutation 'R5320:Fam98a'

406090

Institutional Source

Beutler Lab

Gene Symbol

Fam98a

Ensembl Gene

ENSMUSG00000002017

Gene Name

family with sequence similarity 98, member A

Synonyms

2810405J04Rik

MMRRC Submission

042903-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.642) question?

Stock #

R5320 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75844081-75858941 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75845810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 312 (I312T)

Ref Sequence

ENSEMBL: ENSMUSP00000108126 (fasta)

Gene Model

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

AlphaFold

Q3TJZ6

Predicted Effect

probably damaging
Transcript: ENSMUST00000112507
AA Change: I312T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000108126
Gene: ENSMUSG00000002017
AA Change: I312T

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

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.8%
20x: 96.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,526,541 (GRCm39)	I581N	probably damaging	Het
Abcb10	A	G	8: 124,697,763 (GRCm39)	F187S	probably benign	Het
Actl11	T	A	9: 107,808,203 (GRCm39)	V842E	possibly damaging	Het
Akap12	A	G	10: 4,307,291 (GRCm39)	D1367G	probably benign	Het
Aoc1l1	T	A	6: 48,952,474 (GRCm39)	L133Q	probably damaging	Het
Aoc1l3	T	A	6: 48,964,509 (GRCm39)	F172L	probably benign	Het
AU040320	A	T	4: 126,717,509 (GRCm39)	H362L	possibly damaging	Het
Bmpr1a	C	T	14: 34,146,999 (GRCm39)	V258M	probably damaging	Het
Bptf	T	A	11: 106,972,193 (GRCm39)	K892*	probably null	Het
Cap2	A	G	13: 46,801,840 (GRCm39)	*422W	probably null	Het
Cars2	G	T	8: 11,567,854 (GRCm39)	H414N	probably benign	Het
Ccnt1	A	C	15: 98,442,124 (GRCm39)	S381R	probably benign	Het
Cdyl2	A	T	8: 117,321,794 (GRCm39)	C244*	probably null	Het
Cers2	A	G	3: 95,228,305 (GRCm39)	E115G	probably null	Het
Cpt1b	G	A	15: 89,303,477 (GRCm39)	P553S	probably benign	Het
Cuedc1	A	G	11: 88,068,136 (GRCm39)	E128G	probably damaging	Het
Dll4	T	A	2: 119,156,968 (GRCm39)	V80D	probably damaging	Het
Dop1b	T	C	16: 93,536,874 (GRCm39)	L113P	probably damaging	Het
Gnrhr	T	G	5: 86,345,473 (GRCm39)	K71T	possibly damaging	Het
Gtf3c3	A	T	1: 54,445,032 (GRCm39)	L674Q	probably damaging	Het
Hipk2	A	T	6: 38,795,212 (GRCm39)	H352Q	probably damaging	Het
Hivep1	T	C	13: 42,313,115 (GRCm39)	V1785A	probably damaging	Het
Hspa4	A	T	11: 53,153,810 (GRCm39)	I687N	probably damaging	Het
Krt18	A	T	15: 101,936,955 (GRCm39)	D81V	probably damaging	Het
Lama3	A	C	18: 12,685,912 (GRCm39)	D1142A	probably damaging	Het
Lnpep	A	G	17: 17,766,727 (GRCm39)	I713T	possibly damaging	Het
Man2b2	T	A	5: 36,967,677 (GRCm39)	Y897F	probably damaging	Het
Muc5b	A	T	7: 141,412,738 (GRCm39)	I1895F	unknown	Het
Myh8	G	A	11: 67,177,089 (GRCm39)	V414I	probably damaging	Het
Myo1d	A	T	11: 80,575,149 (GRCm39)		probably null	Het
Nav2	A	T	7: 49,141,121 (GRCm39)	M889L	probably benign	Het
Oc90	C	T	15: 65,754,457 (GRCm39)	G236D	probably benign	Het
Or13a27	A	G	7: 139,925,548 (GRCm39)	V118A	probably benign	Het
Pak4	A	G	7: 28,267,631 (GRCm39)	I11T	probably damaging	Het
Papss2	T	C	19: 32,615,787 (GRCm39)	I173T	probably damaging	Het
Pcsk9	A	T	4: 106,320,988 (GRCm39)	D40E	probably benign	Het
Pdzrn3	G	C	6: 101,128,064 (GRCm39)	H867Q	probably damaging	Het
Plcb1	A	T	2: 135,094,696 (GRCm39)	I174F	possibly damaging	Het
Pom121l2	G	A	13: 22,166,015 (GRCm39)	W95*	probably null	Het
Prcp	A	T	7: 92,577,843 (GRCm39)	T336S	probably benign	Het
Prdm11	A	C	2: 92,843,226 (GRCm39)	S78A	probably benign	Het
Ralgds	T	C	2: 28,435,224 (GRCm39)	I405T	probably damaging	Het
Rasgrf1	A	G	9: 89,902,478 (GRCm39)	R1208G	probably damaging	Het
Rasgrp2	T	A	19: 6,458,864 (GRCm39)		probably null	Het
Rb1	A	T	14: 73,450,566 (GRCm39)	Y599*	probably null	Het
Rnf141	A	T	7: 110,433,010 (GRCm39)	F62L	probably damaging	Het
Rsl24d1	T	A	9: 73,023,698 (GRCm39)	F292I	possibly damaging	Het
Scn10a	C	T	9: 119,477,175 (GRCm39)	V736I	probably damaging	Het
Sim2	A	T	16: 93,905,598 (GRCm39)	T141S	probably benign	Het
Slc6a15	G	T	10: 103,244,067 (GRCm39)	V436L	probably damaging	Het
Smarca2	T	C	19: 26,668,772 (GRCm39)	S924P	probably damaging	Het
Tacc1	T	C	8: 25,671,881 (GRCm39)	E449G	probably benign	Het
Tlr3	A	T	8: 45,852,137 (GRCm39)	N253K	possibly damaging	Het
Tmem198	G	A	1: 75,456,500 (GRCm39)	A82T	probably benign	Het
Tom1l2	A	T	11: 60,133,648 (GRCm39)	L54*	probably null	Het
Trav12-2	A	G	14: 53,854,356 (GRCm39)	Y110C	probably benign	Het
Trdn	T	A	10: 33,209,247 (GRCm39)		probably null	Het
Trim36	G	T	18: 46,300,565 (GRCm39)	P690Q	probably damaging	Het
Trpc4	A	T	3: 54,206,599 (GRCm39)	M600L	probably damaging	Het
Trpm2	T	A	10: 77,759,355 (GRCm39)	Q1143L	probably benign	Het
Usp34	T	A	11: 23,283,739 (GRCm39)	D144E	probably benign	Het
Vps18	A	T	2: 119,127,858 (GRCm39)	R894*	probably null	Het
Vwa1	A	G	4: 155,855,369 (GRCm39)	V248A	probably benign	Het
Wdr75	T	C	1: 45,838,211 (GRCm39)	V40A	probably damaging	Het

Other mutations in Fam98a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Fam98a	APN	17	75,858,742 (GRCm39)	missense	probably damaging	1.00
IGL00548:Fam98a	APN	17	75,845,813 (GRCm39)	missense	probably damaging	1.00
IGL02170:Fam98a	APN	17	75,847,187 (GRCm39)	critical splice acceptor site	probably null
IGL02399:Fam98a	APN	17	75,845,936 (GRCm39)	splice site	probably benign
IGL03062:Fam98a	APN	17	75,847,100 (GRCm39)	splice site	probably benign
IGL03246:Fam98a	APN	17	75,845,848 (GRCm39)	missense	probably damaging	0.99
R0584:Fam98a	UTSW	17	75,851,772 (GRCm39)	missense	probably damaging	1.00
R0594:Fam98a	UTSW	17	75,845,482 (GRCm39)	nonsense	probably null
R1121:Fam98a	UTSW	17	75,845,529 (GRCm39)	missense	unknown
R1366:Fam98a	UTSW	17	75,846,381 (GRCm39)	splice site	probably benign
R1387:Fam98a	UTSW	17	75,845,264 (GRCm39)	missense	unknown
R1424:Fam98a	UTSW	17	75,847,173 (GRCm39)	missense	probably damaging	1.00
R1533:Fam98a	UTSW	17	75,848,276 (GRCm39)	missense	probably damaging	1.00
R1651:Fam98a	UTSW	17	75,854,710 (GRCm39)	missense	probably benign	0.16
R2211:Fam98a	UTSW	17	75,845,940 (GRCm39)	critical splice donor site	probably null
R4295:Fam98a	UTSW	17	75,848,342 (GRCm39)	missense	probably damaging	1.00
R4350:Fam98a	UTSW	17	75,848,220 (GRCm39)	missense	probably damaging	1.00
R4963:Fam98a	UTSW	17	75,845,977 (GRCm39)	missense	probably damaging	0.99
R5383:Fam98a	UTSW	17	75,845,576 (GRCm39)	missense	unknown
R6031:Fam98a	UTSW	17	75,846,427 (GRCm39)	missense	probably damaging	0.98
R6031:Fam98a	UTSW	17	75,846,427 (GRCm39)	missense	probably damaging	0.98
R7058:Fam98a	UTSW	17	75,845,384 (GRCm39)	missense	unknown
R7182:Fam98a	UTSW	17	75,846,013 (GRCm39)	nonsense	probably null
R7505:Fam98a	UTSW	17	75,845,233 (GRCm39)	missense	unknown
R7554:Fam98a	UTSW	17	75,854,670 (GRCm39)	nonsense	probably null
R7566:Fam98a	UTSW	17	75,854,657 (GRCm39)	missense	probably damaging	1.00
R8095:Fam98a	UTSW	17	75,845,766 (GRCm39)	missense	probably damaging	1.00
R8467:Fam98a	UTSW	17	75,851,830 (GRCm39)	missense	probably damaging	1.00
R8790:Fam98a	UTSW	17	75,854,684 (GRCm39)	missense	possibly damaging	0.93
R8827:Fam98a	UTSW	17	75,851,824 (GRCm39)	missense	possibly damaging	0.74
R9375:Fam98a	UTSW	17	75,848,330 (GRCm39)	missense	possibly damaging	0.55
R9625:Fam98a	UTSW	17	75,845,474 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GTGGTCATAGCTACCACGTC -3'
(R):5'- AAGGTAAGGTCTCTGTTGCTC -3'

Sequencing Primer
(F):5'- GTCATAGCTACCACGTCCACCTC -3'
(R):5'- TTTTAAGGACAAGCAGTGGGTCC -3'

Posted On

2016-07-22