Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01537:Fam107b'

90008

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam107b

Ensembl Gene

ENSMUSG00000026655

Gene Name

family with sequence similarity 107, member B

Synonyms

3110001A13Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01537

Quality Score

Status

Chromosome

Chromosomal Location

3705049-3783179 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3779565 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 80 (L80Q)

Ref Sequence

ENSEMBL: ENSMUSP00000110707 (fasta)

Gene Model

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

AlphaFold

Q3TGF2

Predicted Effect

probably damaging
Transcript: ENSMUST00000027965
AA Change: L80Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000027965
Gene: ENSMUSG00000026655
AA Change: L80Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115052
AA Change: L102Q

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110704
Gene: ENSMUSG00000026655
AA Change: L102Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115053
AA Change: L80Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110705
Gene: ENSMUSG00000026655
AA Change: L80Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115054
AA Change: L80Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110706
Gene: ENSMUSG00000026655
AA Change: L80Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000115055
AA Change: L80Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110707
Gene: ENSMUSG00000026655
AA Change: L80Q

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176254
AA Change: L24Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135846
Gene: ENSMUSG00000026655
AA Change: L24Q

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: L256Q

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn1l	T	C	8: 110,459,312 (GRCm39)	R317G	probably benign	Het
B130006D01Rik	T	A	11: 95,616,992 (GRCm39)		probably benign	Het
Brinp2	T	C	1: 158,074,379 (GRCm39)	T581A	probably damaging	Het
Cacna1b	A	T	2: 24,548,540 (GRCm39)	I1179N	probably damaging	Het
Cacnb3	A	G	15: 98,541,301 (GRCm39)	D434G	probably damaging	Het
Cdh19	T	C	1: 110,847,341 (GRCm39)	T423A	possibly damaging	Het
Chkb	C	T	15: 89,311,986 (GRCm39)		probably benign	Het
Cit	T	C	5: 116,071,913 (GRCm39)	Y623H	probably benign	Het
Clstn3	G	A	6: 124,408,559 (GRCm39)	R918C	possibly damaging	Het
Dnah2	T	A	11: 69,406,906 (GRCm39)	M200L	probably benign	Het
Dnah9	T	A	11: 65,838,506 (GRCm39)	H3097L	probably benign	Het
Dst	T	A	1: 34,314,401 (GRCm39)	L4217H	probably damaging	Het
Fgfr1	T	A	8: 26,045,595 (GRCm39)	C55S	probably damaging	Het
Igkv4-71	C	A	6: 69,220,264 (GRCm39)	G78*	probably null	Het
Igsf10	A	G	3: 59,237,452 (GRCm39)	S910P	probably benign	Het
Ikzf3	T	C	11: 98,407,718 (GRCm39)	D41G	probably damaging	Het
Larp1	T	A	11: 57,933,648 (GRCm39)	I358N	possibly damaging	Het
Marchf5	C	T	19: 37,188,067 (GRCm39)		probably benign	Het
Mpdz	T	C	4: 81,287,895 (GRCm39)	T455A	probably damaging	Het
Myo1b	A	G	1: 51,815,510 (GRCm39)	V612A	possibly damaging	Het
Nipbl	T	C	15: 8,380,023 (GRCm39)	D923G	probably benign	Het
Nlrp4b	T	C	7: 10,448,918 (GRCm39)	F7L	probably damaging	Het
Npas4	T	C	19: 5,037,355 (GRCm39)	N313S	possibly damaging	Het
Nynrin	T	A	14: 56,109,502 (GRCm39)	N1536K	possibly damaging	Het
Or10d5	T	A	9: 39,861,921 (GRCm39)	T49S	probably benign	Het
Or13a22	A	G	7: 140,072,751 (GRCm39)	N67D	probably damaging	Het
Or4c107	T	C	2: 88,788,885 (GRCm39)	V25A	probably benign	Het
Pclo	T	C	5: 14,589,647 (GRCm39)	V649A	unknown	Het
Pom121	A	G	5: 135,421,389 (GRCm39)		probably benign	Het
Ptcd2	A	T	13: 99,466,521 (GRCm39)	I224N	possibly damaging	Het
Rsrp1	C	T	4: 134,651,290 (GRCm39)	P18L	unknown	Het
Sash1	A	T	10: 8,605,422 (GRCm39)	N989K	probably damaging	Het
Scn2a	T	A	2: 65,546,219 (GRCm39)	H927Q	probably benign	Het
Selenoi	G	T	5: 30,461,222 (GRCm39)	V128F	probably damaging	Het
Slc25a42	T	C	8: 70,642,092 (GRCm39)	I117V	probably benign	Het
Spata1	A	G	3: 146,195,558 (GRCm39)		probably benign	Het
Sptlc3	A	T	2: 139,431,615 (GRCm39)	Y379F	possibly damaging	Het
Tent4a	A	T	13: 69,648,678 (GRCm39)	S693T	probably benign	Het
Tinag	C	T	9: 76,952,885 (GRCm39)	R33K	probably benign	Het
Trappc8	T	C	18: 20,968,061 (GRCm39)	D1092G	probably benign	Het
Xntrpc	A	G	7: 101,722,401 (GRCm39)	E22G	probably damaging	Het
Zbtb7b	A	G	3: 89,287,278 (GRCm39)	M397T	possibly damaging	Het
Zgpat	A	G	2: 181,020,682 (GRCm39)	D285G	probably benign	Het

Other mutations in Fam107b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03377:Fam107b	APN	2	3,779,481 (GRCm39)	missense	probably damaging	1.00
R4021:Fam107b	UTSW	2	3,779,511 (GRCm39)	missense	probably damaging	1.00
R4234:Fam107b	UTSW	2	3,771,777 (GRCm39)	missense	possibly damaging	0.67
R4841:Fam107b	UTSW	2	3,779,580 (GRCm39)	missense	probably damaging	1.00
R4842:Fam107b	UTSW	2	3,779,580 (GRCm39)	missense	probably damaging	1.00
R4938:Fam107b	UTSW	2	3,773,907 (GRCm39)	missense	probably benign	0.00
R5557:Fam107b	UTSW	2	3,771,791 (GRCm39)	nonsense	probably null
R5754:Fam107b	UTSW	2	3,779,457 (GRCm39)	missense	probably damaging	1.00
R5892:Fam107b	UTSW	2	3,779,601 (GRCm39)	missense	probably damaging	1.00
R5996:Fam107b	UTSW	2	3,780,667 (GRCm39)	splice site	probably null
R7634:Fam107b	UTSW	2	3,771,777 (GRCm39)	missense	possibly damaging	0.67
R7652:Fam107b	UTSW	2	3,773,884 (GRCm39)	missense	probably benign	0.00
R7664:Fam107b	UTSW	2	3,571,747 (GRCm39)	missense	probably damaging	0.98
R7672:Fam107b	UTSW	2	3,773,959 (GRCm39)	missense	probably damaging	1.00
X0027:Fam107b	UTSW	2	3,779,504 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-12-03