Mutagenetix > Incidental Mutation

Incidental Mutation 'R1220:Fam118b'

100008

Institutional Source

Beutler Lab

Gene Symbol

Fam118b

Ensembl Gene

ENSMUSG00000050471

Gene Name

family with sequence similarity 118, member B

Synonyms

C030004A17Rik, 2700018L24Rik, 2310022O21Rik

MMRRC Submission

039289-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R1220 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

35128261-35179101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 35134969 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 213 (S213G)

Ref Sequence

ENSEMBL: ENSMUSP00000113537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059057] [ENSMUST00000063782] [ENSMUST00000121564] [ENSMUST00000125087] [ENSMUST00000132799] [ENSMUST00000214230] [ENSMUST00000217306]

AlphaFold

Q8C569

Predicted Effect

possibly damaging
Transcript: ENSMUST00000059057
AA Change: S213G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058377
Gene: ENSMUSG00000050471
AA Change: S213G

Domain	Start	End	E-Value	Type
low complexity region	71	86	N/A	INTRINSIC
Pfam:SIR2_2	157	301	1.9e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063782
AA Change: S137G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000066281
Gene: ENSMUSG00000050471
AA Change: S137G

Domain	Start	End	E-Value	Type
Pfam:SIR2_2	75	225	7.7e-18	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000121564
AA Change: S213G

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000113537
Gene: ENSMUSG00000050471
AA Change: S213G

Domain	Start	End	E-Value	Type
low complexity region	71	86	N/A	INTRINSIC
Pfam:SIR2_2	157	301	2.7e-23	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125087
AA Change: S213G

PolyPhen 2 Score 0.706 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119747
Gene: ENSMUSG00000050471
AA Change: S213G

Domain	Start	End	E-Value	Type
low complexity region	71	86	N/A	INTRINSIC
Pfam:SIR2_2	157	268	3.1e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000132799

SMART Domains

Protein: ENSMUSP00000115104
Gene: ENSMUSG00000032042

Domain	Start	End	E-Value	Type
Pfam:SRP54	3	132	8.6e-22	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000133739
AA Change: S95G

SMART Domains

Protein: ENSMUSP00000121690
Gene: ENSMUSG00000050471
AA Change: S95G

Domain	Start	End	E-Value	Type
low complexity region	30	45	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000214230

Predicted Effect

probably benign
Transcript: ENSMUST00000217306

Meta Mutation Damage Score

0.0646

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.2%
20x: 89.2%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm1	C	A	7: 119,257,537 (GRCm39)	S407R	probably benign	Het
Add2	A	T	6: 86,063,982 (GRCm39)	M94L	possibly damaging	Het
Anks6	A	T	4: 47,025,767 (GRCm39)		probably benign	Het
Atxn1	A	G	13: 45,710,899 (GRCm39)	S678P	probably benign	Het
Ccnc	A	G	4: 21,732,491 (GRCm39)	Y76C	probably damaging	Het
Col1a1	G	T	11: 94,841,957 (GRCm39)	A1335S	unknown	Het
Col25a1	G	T	3: 130,182,574 (GRCm39)		probably benign	Het
Commd10	C	A	18: 47,220,107 (GRCm39)	Q195K	probably damaging	Het
Cps1	G	A	1: 67,243,862 (GRCm39)		probably null	Het
Cramp1	A	T	17: 25,201,211 (GRCm39)	V757D	probably damaging	Het
Cttn	T	C	7: 144,017,699 (GRCm39)	T13A	probably benign	Het
Eftud2	A	G	11: 102,742,573 (GRCm39)		probably benign	Het
Eif4enif1	A	G	11: 3,189,493 (GRCm39)		probably benign	Het
Exoc3l2	T	A	7: 19,225,709 (GRCm39)		probably benign	Het
Katnal1	G	A	5: 148,831,061 (GRCm39)	A171V	probably benign	Het
Lrig3	A	G	10: 125,832,945 (GRCm39)	N273S	probably damaging	Het
Lrriq1	G	A	10: 102,906,990 (GRCm39)	R1577W	probably benign	Het
Or1e26	A	C	11: 73,480,203 (GRCm39)	Y120*	probably null	Het
Or5p70	T	A	7: 107,994,539 (GRCm39)	S71T	probably benign	Het
Pmel	A	G	10: 128,549,929 (GRCm39)	D30G	probably benign	Het
Ppp1r15a	T	C	7: 45,173,293 (GRCm39)	Y505C	probably damaging	Het
Prpf40b	C	T	15: 99,214,229 (GRCm39)	R830C	probably benign	Het
Rabgap1l	A	T	1: 160,566,479 (GRCm39)	D106E	probably damaging	Het
Rad18	C	A	6: 112,626,625 (GRCm39)	E141*	probably null	Het
Ros1	C	T	10: 51,974,966 (GRCm39)	V1540M	probably damaging	Het
Secisbp2	G	A	13: 51,810,941 (GRCm39)	R201H	probably damaging	Het
Shisa6	A	G	11: 66,110,836 (GRCm39)	S302P	probably damaging	Het
Slamf9	C	A	1: 172,304,898 (GRCm39)	Q171K	probably benign	Het
Sox6	T	A	7: 115,261,677 (GRCm39)	T180S	probably damaging	Het
Ttn	T	C	2: 76,553,998 (GRCm39)	S30902G	possibly damaging	Het
Xirp1	A	G	9: 119,846,982 (GRCm39)	F634L	possibly damaging	Het
Yrdc	T	A	4: 124,748,329 (GRCm39)	S278T	possibly damaging	Het

Other mutations in Fam118b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1293:Fam118b	UTSW	9	35,132,721 (GRCm39)	missense	probably damaging	1.00
R2079:Fam118b	UTSW	9	35,134,960 (GRCm39)	missense	possibly damaging	0.91
R4660:Fam118b	UTSW	9	35,146,551 (GRCm39)	missense	possibly damaging	0.86
R6418:Fam118b	UTSW	9	35,146,633 (GRCm39)	missense	probably damaging	1.00
R7000:Fam118b	UTSW	9	35,146,560 (GRCm39)	missense	probably damaging	1.00
R7016:Fam118b	UTSW	9	35,135,014 (GRCm39)	missense	probably damaging	1.00
R7095:Fam118b	UTSW	9	35,132,786 (GRCm39)	missense	possibly damaging	0.95
R7947:Fam118b	UTSW	9	35,129,239 (GRCm39)	missense	probably benign	0.00
R8926:Fam118b	UTSW	9	35,146,732 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTCCTGAAAACCTCTAGCACCG -3'
(R):5'- TAGTCCTCAGGCAGCCTCTTACAC -3'

Sequencing Primer
(F):5'- ATTCCCCAGGATGGTATGCAC -3'
(R):5'- AGCCTCTTACACACTGTGAC -3'

Posted On

2014-01-15