Mutagenetix > Incidental Mutation

Incidental Mutation 'R6927:Fam118a'

541180

Institutional Source

Beutler Lab

Gene Symbol

Fam118a

Ensembl Gene

ENSMUSG00000022434

Gene Name

family with sequence similarity 118, member A

Synonyms

3110048E14Rik, C230014M12Rik

MMRRC Submission

045044-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.219) question?

Stock #

R6927 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84913149-84947031 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 84929038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154985 (fasta)

Gene Model

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

AlphaFold

Q91YN1

Predicted Effect

probably null
Transcript: ENSMUST00000023069

SMART Domains

Protein: ENSMUSP00000023069
Gene: ENSMUSG00000022434

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

Predicted Effect

probably null
Transcript: ENSMUST00000023069

SMART Domains

Protein: ENSMUSP00000023069
Gene: ENSMUSG00000022434

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

Predicted Effect

probably null
Transcript: ENSMUST00000229203

Predicted Effect

probably null
Transcript: ENSMUST00000229203

Predicted Effect

probably benign
Transcript: ENSMUST00000230213
AA Change: V3A

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.0%
20x: 96.1%

Validation Efficiency

98% (57/58)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,635,317 (GRCm39)	W229R	probably damaging	Het
Adck2	T	C	6: 39,560,998 (GRCm39)		probably null	Het
Ahi1	A	T	10: 20,930,968 (GRCm39)	N936I	probably damaging	Het
Ass1	T	C	2: 31,404,813 (GRCm39)	S365P	probably damaging	Het
Atp9b	T	C	18: 80,935,072 (GRCm39)	K208E	possibly damaging	Het
Bag6	G	A	17: 35,364,898 (GRCm39)		probably null	Het
Bptf	A	T	11: 106,945,421 (GRCm39)	V2491E	probably damaging	Het
Cd300ld2	T	A	11: 114,904,619 (GRCm39)	R83W	probably damaging	Het
Chrnd	T	C	1: 87,126,434 (GRCm39)	F396L	probably damaging	Het
Cyp3a13	G	A	5: 137,893,546 (GRCm39)	P439S	probably damaging	Het
Dnhd1	C	A	7: 105,364,770 (GRCm39)	H4279N	probably damaging	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fasn	T	A	11: 120,699,115 (GRCm39)	D2386V	probably benign	Het
Fat1	G	A	8: 45,477,532 (GRCm39)	V2170I	probably benign	Het
Fdps	T	C	3: 89,000,958 (GRCm39)	R374G	probably benign	Het
Fhl5	T	C	4: 25,213,681 (GRCm39)	D85G	probably benign	Het
Flvcr1	T	C	1: 190,757,861 (GRCm39)	M144V	possibly damaging	Het
Gask1b	T	C	3: 79,848,769 (GRCm39)	I505T	probably damaging	Het
Gpr31b	A	G	17: 13,270,765 (GRCm39)	S135P	probably damaging	Het
Hey2	A	T	10: 30,710,413 (GRCm39)	D113E	probably benign	Het
Hoxc5	T	A	15: 102,923,807 (GRCm39)	I201N	probably damaging	Het
Ighv1-50	A	T	12: 115,083,794 (GRCm39)	W3R	probably damaging	Het
Impa1	A	G	3: 10,380,348 (GRCm39)	I208T	probably benign	Het
Iqcj	T	C	3: 67,954,624 (GRCm39)	L43P	possibly damaging	Het
Itga10	T	C	3: 96,564,030 (GRCm39)	F895L	probably damaging	Het
Kdm4b	T	C	17: 56,706,435 (GRCm39)	C850R	probably damaging	Het
Krt25	A	T	11: 99,208,205 (GRCm39)	I341N	probably damaging	Het
L3mbtl3	T	A	10: 26,168,567 (GRCm39)	R621*	probably null	Het
Lipm	T	C	19: 34,078,563 (GRCm39)		probably benign	Het
Macrod2	A	T	2: 142,098,441 (GRCm39)	D286V	probably damaging	Het
Mad2l2	T	A	4: 148,225,411 (GRCm39)	V27E	possibly damaging	Het
Map4k4	T	A	1: 40,050,842 (GRCm39)	H768Q	probably benign	Het
Mgat4d	A	G	8: 84,081,496 (GRCm39)	N83S	probably benign	Het
Nucb1	C	T	7: 45,148,282 (GRCm39)	R141H	possibly damaging	Het
Or2t46	A	G	11: 58,472,491 (GRCm39)	K274E	possibly damaging	Het
Pcdhga2	A	C	18: 37,803,719 (GRCm39)	D521A	probably damaging	Het
Pcnx1	T	C	12: 81,964,586 (GRCm39)	V251A	probably benign	Het
Pdf	A	T	8: 107,774,833 (GRCm39)	M133K	probably damaging	Het
Piezo2	A	G	18: 63,166,057 (GRCm39)	F2058S	probably damaging	Het
Plekhb2	T	A	1: 34,915,982 (GRCm39)		probably null	Het
Ppp2r3d	G	C	9: 101,052,547 (GRCm39)	H221D	probably damaging	Het
Prl2c5	A	T	13: 13,357,503 (GRCm39)		probably null	Het
Puf60	T	A	15: 75,947,663 (GRCm39)	M49L	probably benign	Het
Rdh16f1	T	C	10: 127,624,561 (GRCm39)	V133A	probably benign	Het
Robo2	T	A	16: 73,778,946 (GRCm39)	D389V	probably damaging	Het
Slc22a23	G	T	13: 34,528,362 (GRCm39)	A140D	probably benign	Het
Slc25a42	A	G	8: 70,641,573 (GRCm39)	L136P	probably damaging	Het
Slc36a3	T	A	11: 55,020,519 (GRCm39)	M284L	probably damaging	Het
Tas2r115	T	A	6: 132,714,895 (GRCm39)	I19F	probably damaging	Het
Tmc2	A	G	2: 130,103,300 (GRCm39)	H812R	probably benign	Het
Vmn2r26	A	G	6: 124,016,057 (GRCm39)	S174G	possibly damaging	Het
Vstm4	T	A	14: 32,585,959 (GRCm39)		probably null	Het
Vwc2	C	A	11: 11,104,250 (GRCm39)	P261T	probably damaging	Het
Zfhx3	C	G	8: 109,683,453 (GRCm39)	H3631D	unknown	Het
Zfp335	A	G	2: 164,735,640 (GRCm39)	C1105R	probably damaging	Het
Zfp488	A	G	14: 33,692,755 (GRCm39)	L136P	probably benign	Het
Zzef1	G	A	11: 72,803,983 (GRCm39)	R2575H	probably damaging	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
R7684:Fam118a	UTSW	15	84,942,982 (GRCm39)	missense	possibly damaging	0.59
R7845:Fam118a	UTSW	15	84,930,052 (GRCm39)	missense	possibly damaging	0.94
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'- CTGCAGAGGAACCACTTGTG -3'
(R):5'- TGTGGTCAGCAGTTCACTCC -3'

Sequencing Primer
(F):5'- CACTTGTGTGGGCCTTTTTCTAG -3'
(R):5'- CAGTAAGTGGGACCTGCTG -3'

Posted On

2018-11-28