Mutagenetix > Incidental Mutation

Incidental Mutation 'R1293:Fam118b'

150711

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

039359-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R1293 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35128261-35179101 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 35132721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 313 (Y313N)

Ref Sequence

ENSEMBL: ENSMUSP00000113537 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034541] [ENSMUST00000059057] [ENSMUST00000063782] [ENSMUST00000121564] [ENSMUST00000125087] [ENSMUST00000132799] [ENSMUST00000217306] [ENSMUST00000214230]

AlphaFold

Q8C569

Predicted Effect

probably benign
Transcript: ENSMUST00000034541

SMART Domains

Protein: ENSMUSP00000034541
Gene: ENSMUSG00000032042

Domain	Start	End	E-Value	Type
Pfam:SRP-alpha_N	27	301	4.4e-69	PFAM
SRP54_N	318	395	4.04e-6	SMART
AAA	415	568	9.65e-10	SMART
SRP54	416	635	3.47e-78	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000059057
AA Change: Y313N

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

SMART Domains

Protein: ENSMUSP00000058377
Gene: ENSMUSG00000050471
AA Change: Y313N

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

possibly damaging
Transcript: ENSMUST00000063782
AA Change: Y237N

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000066281
Gene: ENSMUSG00000050471
AA Change: Y237N

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000121564
AA Change: Y313N

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

SMART Domains

Protein: ENSMUSP00000113537
Gene: ENSMUSG00000050471
AA Change: Y313N

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

probably benign
Transcript: ENSMUST00000125087

SMART Domains

Protein: ENSMUSP00000119747
Gene: ENSMUSG00000050471

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

probably benign
Transcript: ENSMUST00000133739

SMART Domains

Protein: ENSMUSP00000121690
Gene: ENSMUSG00000050471

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000217306
AA Change: Y38N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000214230

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.7%
20x: 90.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss2	G	A	2: 155,393,141 (GRCm39)	R289Q	probably benign	Het
Adgrl4	G	A	3: 151,213,081 (GRCm39)	E374K	probably benign	Het
Ate1	G	A	7: 129,996,455 (GRCm39)	R505C	probably benign	Het
Cntn4	T	C	6: 106,330,685 (GRCm39)	I101T	probably benign	Het
Dmtf1	T	A	5: 9,190,383 (GRCm39)		probably null	Het
Dnah17	C	A	11: 118,017,963 (GRCm39)		probably null	Het
Efhc1	A	G	1: 21,048,996 (GRCm39)	T470A	probably damaging	Het
Gm10142	T	C	10: 77,551,869 (GRCm39)	S77P	probably benign	Het
Kat8	T	C	7: 127,521,422 (GRCm39)		probably null	Het
Lrp2	T	C	2: 69,353,646 (GRCm39)		probably null	Het
Lrrc10	A	G	10: 116,881,838 (GRCm39)	T171A	probably benign	Het
Mcidas	A	G	13: 113,133,926 (GRCm39)	T137A	probably benign	Het
Med1	G	A	11: 98,047,862 (GRCm39)	T978I	possibly damaging	Het
Muc6	C	A	7: 141,238,255 (GRCm39)	C75F	probably damaging	Het
Olfm3	A	G	3: 114,895,579 (GRCm39)	I154V	possibly damaging	Het
Or2ag15	A	G	7: 106,341,058 (GRCm39)	C28R	probably damaging	Het
Or2y12	G	A	11: 49,426,393 (GRCm39)	C127Y	probably damaging	Het
Or5ak22	T	A	2: 85,230,697 (GRCm39)		probably null	Het
Or7g30	A	T	9: 19,352,728 (GRCm39)	E173V	probably benign	Het
Rsrc1	G	A	3: 67,263,612 (GRCm39)	R324Q	probably damaging	Het
Samd9l	G	T	6: 3,373,947 (GRCm39)	P1105T	possibly damaging	Het
Sgcb	C	A	5: 73,792,870 (GRCm39)	V311F	probably benign	Het
Siglec1	A	G	2: 130,915,451 (GRCm39)	V1380A	probably benign	Het
Spred1	C	T	2: 117,007,889 (GRCm39)	P265L	probably damaging	Het
Unc13b	T	A	4: 43,235,190 (GRCm39)	H3259Q	probably damaging	Het
Unc13c	C	T	9: 73,481,356 (GRCm39)	D1694N	probably benign	Het
Usp24	A	G	4: 106,280,750 (GRCm39)	R2355G	probably benign	Het
Vmn1r53	T	A	6: 90,201,196 (GRCm39)	N43Y	possibly damaging	Het
Wtip	T	C	7: 33,809,646 (GRCm39)	S359G	possibly damaging	Het
Zfp984	T	A	4: 147,840,398 (GRCm39)	K151M	possibly damaging	Het

Other mutations in Fam118b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1220:Fam118b	UTSW	9	35,134,969 (GRCm39)	missense	possibly damaging	0.82
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'- ATGTATGGCGGTCAAAGGACCAC -3'
(R):5'- ACTTTCCAGGCCCTGTTCCTAGAG -3'

Sequencing Primer
(F):5'- GGTCAAAGGACCACTTTAGGACTAC -3'
(R):5'- TGTTCCTAGAGGCCGTCAAG -3'

Posted On

2014-01-29