Mutagenetix > Incidental Mutation

Incidental Mutation 'R4021:Fam107b'

313210

Institutional Source

Beutler Lab

Gene Symbol

Fam107b

Ensembl Gene

ENSMUSG00000026655

Gene Name

family with sequence similarity 107, member B

Synonyms

MMRRC Submission

040955-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4021 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3570488-3782142 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3778474 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 238 (R238Q)

Ref Sequence

ENSEMBL: ENSMUSP00000154419 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027965] [ENSMUST00000115052] [ENSMUST00000115053] [ENSMUST00000115054] [ENSMUST00000115055] [ENSMUST00000176254] [ENSMUST00000177125] [ENSMUST00000226435]

AlphaFold

Q3TGF2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027965
AA Change: R62Q

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000027965
Gene: ENSMUSG00000026655
AA Change: R62Q

Domain	Start	End	E-Value	Type
Pfam:DUF1151	1	120	3.9e-54	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115052
AA Change: R84Q

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110704
Gene: ENSMUSG00000026655
AA Change: R84Q

Domain	Start	End	E-Value	Type
Pfam:DUF1151	29	142	3.4e-45	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115053
AA Change: R62Q

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110705
Gene: ENSMUSG00000026655
AA Change: R62Q

Domain	Start	End	E-Value	Type
Pfam:DUF1151	1	120	3.9e-54	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115054
AA Change: R62Q

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110706
Gene: ENSMUSG00000026655
AA Change: R62Q

Domain	Start	End	E-Value	Type
Pfam:DUF1151	1	120	3.9e-54	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115055
AA Change: R62Q

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000110707
Gene: ENSMUSG00000026655
AA Change: R62Q

Domain	Start	End	E-Value	Type
Pfam:DUF1151	1	120	3.9e-54	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176254
AA Change: R6Q

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000135846
Gene: ENSMUSG00000026655
AA Change: R6Q

Domain	Start	End	E-Value	Type
Pfam:DUF1151	1	64	2.6e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177125

Predicted Effect

probably damaging
Transcript: ENSMUST00000226435
AA Change: R238Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.2758

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.2%

Validation Efficiency

100% (65/65)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired hearing. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,088	L102P	probably benign	Het
Adcy4	C	T	14: 55,775,178		probably null	Het
Adgrf5	A	T	17: 43,430,714		probably benign	Het
Atp11a	A	G	8: 12,842,938	K643R	probably benign	Het
Cacna2d2	C	T	9: 107,514,058	T428M	probably damaging	Het
Cdh22	T	C	2: 165,143,673	D331G	possibly damaging	Het
Chmp3	T	C	6: 71,574,238		probably null	Het
Csnk2a1	C	T	2: 152,258,689	T127M	probably damaging	Het
Cyp2c55	T	A	19: 39,035,434		probably null	Het
Ddias	G	T	7: 92,861,478	D105E	possibly damaging	Het
Dnajb11	A	G	16: 22,869,446	D238G	probably damaging	Het
Dock7	T	C	4: 99,003,920		probably null	Het
Dock9	T	C	14: 121,626,912	K761E	possibly damaging	Het
Entpd7	G	A	19: 43,691,158	R50Q	probably benign	Het
Fam186a	G	C	15: 99,941,799	T2188S	possibly damaging	Het
Farsa	A	G	8: 84,868,870	T465A	probably damaging	Het
Fibp	T	C	19: 5,460,734		probably null	Het
Flywch2	G	A	17: 23,777,039	T128I	possibly damaging	Het
Foxi2	A	T	7: 135,410,530	D49V	probably damaging	Het
Fstl5	A	G	3: 76,628,975	T31A	probably benign	Het
Gabbr2	G	A	4: 46,846,435	T158I	probably damaging	Het
Gbp4	T	A	5: 105,120,923	R455W	probably damaging	Het
Gm11492	A	G	11: 87,567,280	E160G	probably damaging	Het
Got2	T	G	8: 95,877,753	D69A	probably damaging	Het
Gpr63	T	C	4: 25,008,470	F398S	possibly damaging	Het
Gtf2h4	T	C	17: 35,670,664	M186V	probably benign	Het
Haus2	A	T	2: 120,615,930	Q111L	probably damaging	Het
Hexdc	T	C	11: 121,218,161		probably null	Het
Igf2r	T	A	17: 12,748,751	N27I	probably damaging	Het
Itgax	T	A	7: 128,133,139		probably null	Het
Krit1	T	A	5: 3,832,132	I596K	probably benign	Het
Lair1	A	G	7: 4,055,916		probably null	Het
Lilra6	G	T	7: 3,911,418	T276K	probably benign	Het
Mast4	G	A	13: 102,739,321	R1112*	probably null	Het
Mrgprb1	A	T	7: 48,447,123	I347N	possibly damaging	Het
Mroh2b	T	A	15: 4,925,100	C682S	possibly damaging	Het
Mtif3	T	A	5: 146,955,678	R249S	possibly damaging	Het
Mycbp2	C	T	14: 103,152,157	E3406K	probably damaging	Het
Myo15b	A	G	11: 115,873,505	H1315R	probably benign	Het
Nlrp2	A	G	7: 5,325,012	F681L	probably benign	Het
Olfr1157	T	A	2: 87,962,722	T57S	possibly damaging	Het
Olfr703	T	A	7: 106,845,019	M136K	probably damaging	Het
Pear1	T	C	3: 87,756,222	N390D	possibly damaging	Het
Ranbp17	G	A	11: 33,479,189	A352V	probably benign	Het
Rnf17	C	T	14: 56,460,001	H451Y	probably damaging	Het
Sag	A	T	1: 87,821,305		probably null	Het
Slc22a2	T	C	17: 12,584,489	L70P	probably damaging	Het
Slc32a1	C	T	2: 158,611,232		probably benign	Het
Spag17	A	T	3: 100,049,230	I881F	probably benign	Het
Taar7a	G	T	10: 23,993,386	N32K	probably benign	Het
Tbck	C	A	3: 132,727,134	T435K	probably damaging	Het
Tril	T	G	6: 53,819,019	D406A	probably damaging	Het
Tshz2	G	A	2: 169,885,862	D324N	probably damaging	Het
Vps13d	A	G	4: 145,075,061	V2349A	possibly damaging	Het
Wdr6	A	G	9: 108,575,206	W493R	probably damaging	Het
Wdr72	G	A	9: 74,151,593	V323I	probably benign	Het
Zfp488	T	A	14: 33,971,153	M18L	probably benign	Het
Zic4	A	G	9: 91,379,036	T108A	probably benign	Het
Znrf3	T	C	11: 5,281,278	D745G	possibly damaging	Het

Other mutations in Fam107b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01537:Fam107b	APN	2	3778528	missense	probably damaging	1.00
IGL03377:Fam107b	APN	2	3778444	missense	probably damaging	1.00
R4234:Fam107b	UTSW	2	3770740	missense	possibly damaging	0.67
R4841:Fam107b	UTSW	2	3778543	missense	probably damaging	1.00
R4842:Fam107b	UTSW	2	3778543	missense	probably damaging	1.00
R4938:Fam107b	UTSW	2	3772870	missense	probably benign	0.00
R5557:Fam107b	UTSW	2	3770754	nonsense	probably null
R5754:Fam107b	UTSW	2	3778420	missense	probably damaging	1.00
R5892:Fam107b	UTSW	2	3778564	missense	probably damaging	1.00
R5996:Fam107b	UTSW	2	3779630	splice site	probably null
R7634:Fam107b	UTSW	2	3770740	missense	possibly damaging	0.67
R7652:Fam107b	UTSW	2	3772847	missense	probably benign	0.00
R7664:Fam107b	UTSW	2	3570710	missense	probably damaging	0.98
R7672:Fam107b	UTSW	2	3772922	missense	probably damaging	1.00
X0027:Fam107b	UTSW	2	3778467	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTCTTCCAGGCAGTAAGTGTC -3'
(R):5'- CCTGCTGGAATTCTGCTTGC -3'

Sequencing Primer
(F):5'- AGCAGTAGATACTCTCCTCTGG -3'
(R):5'- GGAATTCTGCTTGCCTGGCATC -3'

Posted On

2015-04-30