Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02104:Fam117b'

279870

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fam117b

Ensembl Gene

ENSMUSG00000041040

Gene Name

family with sequence similarity 117, member B

Synonyms

2810425F24Rik, Als2cr13, 6330416D14Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

59952165-60024505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 59988278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 219 (T219I)

Ref Sequence

ENSEMBL: ENSMUSP00000041671 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036540]

AlphaFold

Q3U3E2

Predicted Effect

probably benign
Transcript: ENSMUST00000036540
AA Change: T219I

PolyPhen 2 Score 0.363 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000041671
Gene: ENSMUSG00000041040
AA Change: T219I

Domain	Start	End	E-Value	Type
low complexity region	9	29	N/A	INTRINSIC
low complexity region	50	104	N/A	INTRINSIC
low complexity region	114	144	N/A	INTRINSIC
Pfam:FAM117	211	524	2.9e-125	PFAM
low complexity region	531	542	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188150

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 124,930,714 (GRCm39)		noncoding transcript	Het
Abcb5	T	A	12: 118,904,415 (GRCm39)	Q125L	probably damaging	Het
Acap3	G	A	4: 155,989,542 (GRCm39)	R662H	probably damaging	Het
Aox4	T	A	1: 58,275,816 (GRCm39)		probably benign	Het
Aqp6	T	C	15: 99,502,159 (GRCm39)	S285P	probably benign	Het
Arhgef5	A	T	6: 43,249,345 (GRCm39)	Q32L	probably damaging	Het
B3gnt6	G	T	7: 97,843,308 (GRCm39)	D217E	probably damaging	Het
Cfap251	T	A	5: 123,440,761 (GRCm39)	L1106*	probably null	Het
Chd6	T	C	2: 160,819,432 (GRCm39)	I1338V	probably benign	Het
Clic6	A	G	16: 92,295,367 (GRCm39)	E9G	possibly damaging	Het
Col11a1	T	A	3: 113,975,046 (GRCm39)		probably null	Het
Dcdc2b	T	A	4: 129,504,867 (GRCm39)	D88V	probably benign	Het
Dis3l	T	A	9: 64,217,611 (GRCm39)	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,311,299 (GRCm39)	Y1008*	probably null	Het
Dnah11	A	G	12: 118,156,125 (GRCm39)	V175A	probably benign	Het
Efl1	A	G	7: 82,307,263 (GRCm39)		probably null	Het
Fgf21	T	A	7: 45,264,648 (GRCm39)	Q28L	probably benign	Het
Folh1	T	C	7: 86,393,638 (GRCm39)	Q391R	possibly damaging	Het
Gars1	A	G	6: 55,054,682 (GRCm39)	D663G	probably damaging	Het
Lats2	A	G	14: 57,971,469 (GRCm39)	F69L	probably damaging	Het
Lrp2	C	T	2: 69,340,762 (GRCm39)	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,892,777 (GRCm39)	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,513,482 (GRCm39)	Y497*	probably null	Het
Mast3	T	C	8: 71,240,550 (GRCm39)	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,778,814 (GRCm39)	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,912,036 (GRCm39)	L353S	probably benign	Het
Muc5ac	T	C	7: 141,364,815 (GRCm39)	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,635,805 (GRCm39)	T9A	probably benign	Het
Or10j2	T	C	1: 173,098,603 (GRCm39)	V287A	probably damaging	Het
Or14j8	A	C	17: 38,263,182 (GRCm39)	H244Q	probably damaging	Het
Or55b3	C	A	7: 102,126,544 (GRCm39)	V178F	probably damaging	Het
Or5an6	T	A	19: 12,372,263 (GRCm39)	V212D	probably damaging	Het
Or5b122	T	A	19: 13,562,968 (GRCm39)	M57K	probably damaging	Het
Or5m8	G	T	2: 85,822,730 (GRCm39)	D190Y	probably damaging	Het
Or7g25	A	T	9: 19,160,166 (GRCm39)	H176Q	probably benign	Het
Pabpc2	A	C	18: 39,907,936 (GRCm39)	Q400H	possibly damaging	Het
Pigg	A	G	5: 108,489,963 (GRCm39)	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,306,865 (GRCm39)	V508E	probably benign	Het
Pom121l2	C	A	13: 22,166,445 (GRCm39)	H239N	possibly damaging	Het
Prdm2	A	G	4: 142,859,997 (GRCm39)	S1098P	probably benign	Het
Rnf212	A	G	5: 108,895,306 (GRCm39)	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517 (GRCm39)		probably null	Het
Rpn2	C	T	2: 157,163,747 (GRCm39)	T613M	probably damaging	Het
Scd4	G	T	19: 44,333,186 (GRCm39)	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,574,630 (GRCm39)		probably benign	Het
Shroom3	A	G	5: 93,088,248 (GRCm39)	R158G	probably benign	Het
Stil	T	C	4: 114,898,679 (GRCm39)	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,670,959 (GRCm39)		probably benign	Het
Tmc1	C	T	19: 20,809,818 (GRCm39)	D255N	probably benign	Het
Trank1	C	A	9: 111,219,780 (GRCm39)	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,643,681 (GRCm39)	R718H	probably damaging	Het
Vamp2	C	A	11: 68,981,483 (GRCm39)	F114L	probably benign	Het

Other mutations in Fam117b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01128:Fam117b	APN	1	60,008,177 (GRCm39)	missense	probably damaging	0.99
IGL01596:Fam117b	APN	1	59,992,130 (GRCm39)	nonsense	probably null
IGL02129:Fam117b	APN	1	60,020,582 (GRCm39)	missense	probably benign	0.07
IGL03387:Fam117b	APN	1	59,992,119 (GRCm39)	missense	probably benign	0.26
R0690:Fam117b	UTSW	1	59,997,512 (GRCm39)	missense	possibly damaging	0.65
R1074:Fam117b	UTSW	1	59,997,485 (GRCm39)	missense	possibly damaging	0.88
R1435:Fam117b	UTSW	1	60,008,222 (GRCm39)	missense	possibly damaging	0.80
R2215:Fam117b	UTSW	1	60,008,219 (GRCm39)	missense	probably damaging	1.00
R2267:Fam117b	UTSW	1	59,952,789 (GRCm39)	missense	probably damaging	1.00
R2268:Fam117b	UTSW	1	59,952,789 (GRCm39)	missense	probably damaging	1.00
R5765:Fam117b	UTSW	1	60,009,631 (GRCm39)	splice site	probably null
R6228:Fam117b	UTSW	1	60,008,207 (GRCm39)	missense	probably damaging	1.00
R6439:Fam117b	UTSW	1	60,020,731 (GRCm39)	missense	probably benign	0.45
R6921:Fam117b	UTSW	1	59,992,094 (GRCm39)	missense	probably damaging	1.00
R7633:Fam117b	UTSW	1	60,020,693 (GRCm39)	missense	probably damaging	1.00
R7827:Fam117b	UTSW	1	59,952,837 (GRCm39)	missense	possibly damaging	0.94
R7867:Fam117b	UTSW	1	60,014,046 (GRCm39)	missense	probably damaging	0.98
R8305:Fam117b	UTSW	1	59,952,782 (GRCm39)	missense	probably benign	0.18
R9116:Fam117b	UTSW	1	60,018,456 (GRCm39)	nonsense	probably null
R9368:Fam117b	UTSW	1	60,020,740 (GRCm39)	missense	probably benign	0.12
X0004:Fam117b	UTSW	1	60,014,137 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16