Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02154:Fam135b'

282159

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam135b

Ensembl Gene

ENSMUSG00000036800

Gene Name

family with sequence similarity 135, member B

Synonyms

1700010C24Rik, A830008O07Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02154

Quality Score

Status

Chromosome

Chromosomal Location

71310800-71600282 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71320559 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 1323 (I1323V)

Ref Sequence

ENSEMBL: ENSMUSP00000022953 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022953]

AlphaFold

Q9DAI6

Predicted Effect

probably benign
Transcript: ENSMUST00000022953
AA Change: I1323V

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: I1323V

Domain	Start	End	E-Value	Type
Pfam:DUF3657	111	172	1.9e-19	PFAM
low complexity region	744	757	N/A	INTRINSIC
low complexity region	1124	1130	N/A	INTRINSIC
Pfam:DUF676	1132	1328	2.7e-60	PFAM
Pfam:PGAP1	1135	1309	3.2e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229634

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armc3	G	A	2: 19,290,948 (GRCm39)		probably null	Het
Armh4	G	A	14: 50,010,399 (GRCm39)	T436I	possibly damaging	Het
AW551984	G	A	9: 39,500,398 (GRCm39)	R787C	possibly damaging	Het
Cadm1	A	T	9: 47,725,201 (GRCm39)	I321L	probably benign	Het
Cfap57	A	G	4: 118,470,214 (GRCm39)	L222P	probably damaging	Het
Cox20	A	G	1: 178,150,119 (GRCm39)	I98V	probably benign	Het
Dmrta1	A	G	4: 89,580,150 (GRCm39)	N370S	probably benign	Het
Dnah17	A	G	11: 118,015,087 (GRCm39)	F386L	probably benign	Het
Fndc3b	A	G	3: 27,592,266 (GRCm39)	S211P	probably damaging	Het
Galnt10	T	G	11: 57,675,531 (GRCm39)	L597V	probably damaging	Het
Gtf2e2	T	C	8: 34,245,989 (GRCm39)		probably null	Het
Inpp4b	T	A	8: 82,696,130 (GRCm39)		probably benign	Het
Irag2	T	G	6: 145,083,967 (GRCm39)	M44R	possibly damaging	Het
Lacc1	A	G	14: 77,270,727 (GRCm39)	V269A	probably benign	Het
Mdn1	A	G	4: 32,740,395 (GRCm39)	D3750G	probably benign	Het
Mme	A	T	3: 63,250,976 (GRCm39)	Q339L	probably benign	Het
Mmp3	A	T	9: 7,453,662 (GRCm39)	I428L	probably benign	Het
Myrf	A	T	19: 10,193,482 (GRCm39)	I558N	probably damaging	Het
Or52e8	C	T	7: 104,625,188 (GRCm39)	M1I	probably null	Het
Phb1	A	G	11: 95,565,997 (GRCm39)	I94V	possibly damaging	Het
Prg4	T	A	1: 150,330,613 (GRCm39)		probably benign	Het
Sirpb1a	T	C	3: 15,475,504 (GRCm39)	T344A	probably damaging	Het
Skap2	T	C	6: 51,989,308 (GRCm39)		probably benign	Het
Slc29a1	A	G	17: 45,897,089 (GRCm39)	I399T	probably damaging	Het
Sorl1	C	T	9: 41,915,330 (GRCm39)	V1300I	probably benign	Het
Tas2r117	T	C	6: 132,780,678 (GRCm39)	V272A	probably benign	Het
Tctn2	C	A	5: 124,746,624 (GRCm39)		noncoding transcript	Het
Tmem51	T	C	4: 141,759,089 (GRCm39)	N220D	probably damaging	Het
Trak2	T	C	1: 58,947,888 (GRCm39)	D584G	probably damaging	Het
Vmn1r78	A	G	7: 11,886,472 (GRCm39)	I28V	probably benign	Het
Vmn2r95	A	C	17: 18,672,248 (GRCm39)	I662L	probably benign	Het
Vwa8	C	A	14: 79,086,733 (GRCm39)	R4S	possibly damaging	Het

Other mutations in Fam135b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Fam135b	APN	15	71,322,343 (GRCm39)	missense	probably damaging	1.00
IGL00565:Fam135b	APN	15	71,343,361 (GRCm39)	missense	probably benign
IGL00645:Fam135b	APN	15	71,334,395 (GRCm39)	missense	probably damaging	1.00
IGL00686:Fam135b	APN	15	71,334,168 (GRCm39)	missense	probably benign	0.00
IGL00857:Fam135b	APN	15	71,335,465 (GRCm39)	missense	probably benign	0.16
IGL01443:Fam135b	APN	15	71,335,213 (GRCm39)	missense	probably benign	0.02
IGL01690:Fam135b	APN	15	71,328,784 (GRCm39)	missense	probably benign	0.19
IGL01920:Fam135b	APN	15	71,493,885 (GRCm39)	missense	possibly damaging	0.94
IGL01987:Fam135b	APN	15	71,333,964 (GRCm39)	missense	probably benign
IGL03107:Fam135b	APN	15	71,335,410 (GRCm39)	missense	probably benign
IGL03264:Fam135b	APN	15	71,334,637 (GRCm39)	missense	probably benign
IGL03055:Fam135b	UTSW	15	71,493,883 (GRCm39)	missense	possibly damaging	0.51
R0010:Fam135b	UTSW	15	71,493,881 (GRCm39)	missense	probably damaging	1.00
R0010:Fam135b	UTSW	15	71,493,881 (GRCm39)	missense	probably damaging	1.00
R0230:Fam135b	UTSW	15	71,317,886 (GRCm39)	missense	probably benign	0.02
R0413:Fam135b	UTSW	15	71,335,670 (GRCm39)	missense	probably benign	0.45
R0524:Fam135b	UTSW	15	71,334,133 (GRCm39)	missense	probably benign	0.00
R0565:Fam135b	UTSW	15	71,362,686 (GRCm39)	missense	possibly damaging	0.88
R0628:Fam135b	UTSW	15	71,320,505 (GRCm39)	splice site	probably benign
R1415:Fam135b	UTSW	15	71,328,777 (GRCm39)	missense	probably damaging	0.99
R1462:Fam135b	UTSW	15	71,493,845 (GRCm39)	splice site	probably benign
R1701:Fam135b	UTSW	15	71,331,578 (GRCm39)	missense	probably damaging	1.00
R1797:Fam135b	UTSW	15	71,324,290 (GRCm39)	missense	probably benign	0.41
R1807:Fam135b	UTSW	15	71,335,761 (GRCm39)	missense	probably benign
R1835:Fam135b	UTSW	15	71,362,560 (GRCm39)	missense	probably damaging	1.00
R1905:Fam135b	UTSW	15	71,404,836 (GRCm39)	missense	probably damaging	1.00
R1937:Fam135b	UTSW	15	71,493,863 (GRCm39)	missense	probably damaging	1.00
R1998:Fam135b	UTSW	15	71,324,253 (GRCm39)	missense	probably damaging	0.98
R2076:Fam135b	UTSW	15	71,350,092 (GRCm39)	missense	probably damaging	0.99
R2518:Fam135b	UTSW	15	71,335,760 (GRCm39)	missense	probably benign	0.00
R3110:Fam135b	UTSW	15	71,335,879 (GRCm39)	missense	probably benign	0.05
R3112:Fam135b	UTSW	15	71,335,879 (GRCm39)	missense	probably benign	0.05
R3932:Fam135b	UTSW	15	71,322,280 (GRCm39)	missense	probably benign	0.29
R4361:Fam135b	UTSW	15	71,362,676 (GRCm39)	missense	probably damaging	1.00
R4397:Fam135b	UTSW	15	71,320,525 (GRCm39)	missense	probably benign	0.17
R4435:Fam135b	UTSW	15	71,320,588 (GRCm39)	missense	probably damaging	1.00
R4645:Fam135b	UTSW	15	71,334,189 (GRCm39)	missense	probably benign
R4740:Fam135b	UTSW	15	71,335,920 (GRCm39)	missense	probably benign	0.01
R4748:Fam135b	UTSW	15	71,335,904 (GRCm39)	missense	probably benign	0.00
R4754:Fam135b	UTSW	15	71,334,800 (GRCm39)	missense	probably benign	0.01
R5044:Fam135b	UTSW	15	71,334,560 (GRCm39)	missense	probably benign	0.02
R5469:Fam135b	UTSW	15	71,317,892 (GRCm39)	missense	probably benign	0.16
R5617:Fam135b	UTSW	15	71,493,865 (GRCm39)	missense	probably damaging	1.00
R5642:Fam135b	UTSW	15	71,333,985 (GRCm39)	missense	probably damaging	1.00
R5778:Fam135b	UTSW	15	71,350,881 (GRCm39)	missense	probably damaging	1.00
R5891:Fam135b	UTSW	15	71,397,652 (GRCm39)	missense	probably damaging	1.00
R5958:Fam135b	UTSW	15	71,334,744 (GRCm39)	missense
R5982:Fam135b	UTSW	15	71,320,518 (GRCm39)	critical splice donor site	probably null
R5987:Fam135b	UTSW	15	71,362,697 (GRCm39)	missense	probably benign	0.00
R6535:Fam135b	UTSW	15	71,493,924 (GRCm39)	missense	probably damaging	0.99
R6734:Fam135b	UTSW	15	71,334,629 (GRCm39)	missense	probably benign	0.02
R6887:Fam135b	UTSW	15	71,335,164 (GRCm39)	missense	probably damaging	1.00
R7028:Fam135b	UTSW	15	71,343,412 (GRCm39)	missense	probably damaging	1.00
R7035:Fam135b	UTSW	15	71,334,102 (GRCm39)	missense	possibly damaging	0.77
R7097:Fam135b	UTSW	15	71,493,917 (GRCm39)	missense	possibly damaging	0.92
R7143:Fam135b	UTSW	15	71,351,000 (GRCm39)	missense	probably benign	0.44
R7414:Fam135b	UTSW	15	71,350,105 (GRCm39)	missense	probably damaging	0.97
R7439:Fam135b	UTSW	15	71,335,529 (GRCm39)	missense	probably damaging	0.98
R7441:Fam135b	UTSW	15	71,335,529 (GRCm39)	missense	probably damaging	0.98
R7545:Fam135b	UTSW	15	71,322,359 (GRCm39)	missense	possibly damaging	0.95
R7615:Fam135b	UTSW	15	71,335,172 (GRCm39)	missense	probably damaging	1.00
R7642:Fam135b	UTSW	15	71,350,991 (GRCm39)	missense	possibly damaging	0.51
R7649:Fam135b	UTSW	15	71,334,429 (GRCm39)	missense	probably benign	0.00
R7686:Fam135b	UTSW	15	71,335,233 (GRCm39)	missense	possibly damaging	0.68
R7866:Fam135b	UTSW	15	71,333,925 (GRCm39)	missense	probably benign	0.00
R8006:Fam135b	UTSW	15	71,334,183 (GRCm39)	missense	probably benign	0.00
R8068:Fam135b	UTSW	15	71,404,827 (GRCm39)	missense	probably damaging	1.00
R8167:Fam135b	UTSW	15	71,404,840 (GRCm39)	missense	probably null	1.00
R8252:Fam135b	UTSW	15	71,404,872 (GRCm39)	missense	probably benign	0.10
R8548:Fam135b	UTSW	15	71,334,659 (GRCm39)	missense	probably damaging	0.99
R8833:Fam135b	UTSW	15	71,334,783 (GRCm39)	missense	probably benign	0.04
R8955:Fam135b	UTSW	15	71,334,063 (GRCm39)	missense	possibly damaging	0.85
R8961:Fam135b	UTSW	15	71,404,812 (GRCm39)	missense	probably damaging	1.00
R8987:Fam135b	UTSW	15	71,334,189 (GRCm39)	missense	probably benign	0.00
R9149:Fam135b	UTSW	15	71,334,744 (GRCm39)	missense
R9161:Fam135b	UTSW	15	71,334,417 (GRCm39)	missense	possibly damaging	0.91
R9227:Fam135b	UTSW	15	71,335,856 (GRCm39)	missense	probably benign	0.28
R9230:Fam135b	UTSW	15	71,335,856 (GRCm39)	missense	probably benign	0.28
R9365:Fam135b	UTSW	15	71,334,813 (GRCm39)	missense	probably benign	0.00
R9622:Fam135b	UTSW	15	71,397,686 (GRCm39)	missense	probably damaging	0.98
R9758:Fam135b	UTSW	15	71,324,199 (GRCm39)	missense	probably benign	0.28
R9759:Fam135b	UTSW	15	71,335,689 (GRCm39)	missense	probably benign	0.44
T0722:Fam135b	UTSW	15	71,335,734 (GRCm39)	missense	probably damaging	1.00
T0975:Fam135b	UTSW	15	71,335,734 (GRCm39)	missense	probably damaging	1.00
Z1177:Fam135b	UTSW	15	71,493,925 (GRCm39)	start codon destroyed	probably null	0.06

Posted On

2015-04-16