Mutagenetix > Incidental Mutation

Incidental Mutation 'R7845:Fam118a'

606581

Institutional Source

Beutler Lab

Gene Symbol

Fam118a

Ensembl Gene

ENSMUSG00000022434

Gene Name

family with sequence similarity 118, member A

Synonyms

3110048E14Rik, C230014M12Rik

MMRRC Submission

045899-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.239) question?

Stock #

R7845 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84913149-84947031 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 84930052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 93 (D93E)

Ref Sequence

ENSEMBL: ENSMUSP00000023069 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023069] [ENSMUST00000229203] [ENSMUST00000230213]

AlphaFold

Q91YN1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023069
AA Change: D93E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023069
Gene: ENSMUSG00000022434
AA Change: D93E

Domain	Start	End	E-Value	Type
Pfam:SIR2_2	142	286	7.8e-20	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000229203
AA Change: D93E

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000230213

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

96% (43/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,229 (GRCm39)	H483R	probably damaging	Het
Acot2	G	T	12: 84,039,762 (GRCm39)	G424*	probably null	Het
Adat2	G	T	10: 13,428,741 (GRCm39)		probably benign	Het
Arhgef18	T	C	8: 3,436,959 (GRCm39)	Y250H	probably damaging	Het
Bcl2l2	A	G	14: 55,122,308 (GRCm39)	Y157C	unknown	Het
Bglap2	T	A	3: 88,286,001 (GRCm39)		probably benign	Het
Ccdc14	T	C	16: 34,535,734 (GRCm39)	L495P	probably damaging	Het
Cobl	T	C	11: 12,315,139 (GRCm39)	D275G	probably benign	Het
Cpne2	A	G	8: 95,277,832 (GRCm39)	N72S	probably benign	Het
D7Ertd443e	A	G	7: 133,871,977 (GRCm39)	F628S	probably damaging	Het
Dars2	A	T	1: 160,869,318 (GRCm39)	S644T	probably benign	Het
Depdc5	A	G	5: 33,061,259 (GRCm39)		probably null	Het
Dip2c	A	G	13: 9,659,080 (GRCm39)	S860G	probably damaging	Het
Dnajc21	T	G	15: 10,447,227 (GRCm39)	H507P	probably damaging	Het
Eif2ak2	G	T	17: 79,171,327 (GRCm39)	Q359K	probably damaging	Het
Epha8	T	C	4: 136,663,712 (GRCm39)	E448G	probably benign	Het
Exoc3l	G	C	8: 106,016,782 (GRCm39)	S677R	probably damaging	Het
Fads1	T	A	19: 10,171,405 (GRCm39)	H345Q	probably damaging	Het
Fam135a	T	C	1: 24,068,738 (GRCm39)	I710M	probably benign	Het
Fbxw14	T	A	9: 109,116,671 (GRCm39)	I13F	probably damaging	Het
Gemin6	A	G	17: 80,533,090 (GRCm39)	S8G	probably benign	Het
Ints2	A	T	11: 86,129,089 (GRCm39)	M498K	possibly damaging	Het
Man2a2	G	C	7: 80,018,613 (GRCm39)	A82G	probably benign	Het
Mast1	C	A	8: 85,651,954 (GRCm39)	E343*	probably null	Het
Micu1	T	C	10: 59,675,607 (GRCm39)		probably null	Het
Mis18bp1	A	G	12: 65,196,102 (GRCm39)	I554T	probably benign	Het
Mrps28	T	A	3: 8,988,775 (GRCm39)	N28Y	possibly damaging	Het
Mtpap	T	A	18: 4,387,134 (GRCm39)	S395T	possibly damaging	Het
Muc16	A	T	9: 18,552,069 (GRCm39)	H4741Q	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or13p8	T	C	4: 118,584,158 (GRCm39)	M238T	probably benign	Het
Or4k44	C	A	2: 111,368,512 (GRCm39)	G41*	probably null	Het
Or51f23	G	A	7: 102,453,492 (GRCm39)	R269Q	not run	Het
Ptx4	T	C	17: 25,343,928 (GRCm39)	Y393H	possibly damaging	Het
Ranbp2	G	A	10: 58,282,844 (GRCm39)	V15M	probably damaging	Het
Rbp3	G	T	14: 33,678,421 (GRCm39)	A790S	probably benign	Het
Rfx6	T	A	10: 51,554,122 (GRCm39)	S73T	probably benign	Het
Sec14l3	T	A	11: 4,017,972 (GRCm39)	M84K	probably benign	Het
Sec23b	T	A	2: 144,401,316 (GRCm39)	V59E	possibly damaging	Het
Slc2a1	T	C	4: 118,993,125 (GRCm39)	V425A	possibly damaging	Het
Stab2	A	T	10: 86,832,758 (GRCm39)	V89D	probably benign	Het
Stra8	A	G	6: 34,907,899 (GRCm39)	D117G	probably benign	Het
Syt17	A	T	7: 118,009,194 (GRCm39)	I338N	possibly damaging	Het
Tas2r136	T	A	6: 132,754,833 (GRCm39)	Y98F	probably benign	Het
Tsks	C	A	7: 44,603,168 (GRCm39)		probably null	Het
Wdr62	A	G	7: 29,964,667 (GRCm39)	V359A	possibly damaging	Het
Xrcc6	T	C	15: 81,900,678 (GRCm39)		probably null	Het

Other mutations in Fam118a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0172:Fam118a	UTSW	15	84,929,951 (GRCm39)	missense	probably benign	0.07
R0178:Fam118a	UTSW	15	84,930,081 (GRCm39)	unclassified	probably benign
R0414:Fam118a	UTSW	15	84,929,890 (GRCm39)	missense	probably damaging	1.00
R0531:Fam118a	UTSW	15	84,932,633 (GRCm39)	missense	possibly damaging	0.49
R0853:Fam118a	UTSW	15	84,932,726 (GRCm39)	missense	possibly damaging	0.67
R3621:Fam118a	UTSW	15	84,930,002 (GRCm39)	missense	probably damaging	0.99
R3763:Fam118a	UTSW	15	84,937,998 (GRCm39)	missense	possibly damaging	0.49
R4871:Fam118a	UTSW	15	84,942,969 (GRCm39)	missense	probably damaging	1.00
R5309:Fam118a	UTSW	15	84,934,956 (GRCm39)	missense	probably damaging	1.00
R5527:Fam118a	UTSW	15	84,942,999 (GRCm39)	missense	probably benign
R5725:Fam118a	UTSW	15	84,929,822 (GRCm39)	missense	probably damaging	1.00
R6927:Fam118a	UTSW	15	84,929,038 (GRCm39)	critical splice donor site	probably null
R7684:Fam118a	UTSW	15	84,942,982 (GRCm39)	missense	possibly damaging	0.59
R7904:Fam118a	UTSW	15	84,929,834 (GRCm39)	missense	probably damaging	1.00
R9064:Fam118a	UTSW	15	84,930,039 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTGCTCTTGGTCATTGG -3'
(R):5'- GCCCAGTACTGAGGTTTAAAAGAG -3'

Sequencing Primer
(F):5'- CTCTTGGTCATTGGGACTGGC -3'
(R):5'- GATTTCTGAGCTTGAGAACCGCC -3'

Posted On

2019-12-20