Mutagenetix > Incidental Mutation

Incidental Mutation 'R1435:Fam117b'

159423

Institutional Source

Beutler Lab

Gene Symbol

Fam117b

Ensembl Gene

ENSMUSG00000041040

Gene Name

family with sequence similarity 117, member B

Synonyms

2810425F24Rik, Als2cr13, 6330416D14Rik

MMRRC Submission

039490-MU

Accession Numbers

Essential gene?

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

Stock #

R1435 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

59952165-60024505 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60008222 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 352 (I352T)

Ref Sequence

ENSEMBL: ENSMUSP00000041671 (fasta)

Gene Model

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

AlphaFold

Q3U3E2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036540
AA Change: I352T

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041671
Gene: ENSMUSG00000041040
AA Change: I352T

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

probably benign
Transcript: ENSMUST00000151630

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.0%
20x: 81.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	T	G	11: 69,905,642 (GRCm39)	T62P	probably benign	Het
Amz1	A	T	5: 140,733,921 (GRCm39)	N166Y	probably damaging	Het
Anxa6	T	C	11: 54,882,236 (GRCm39)	Q518R	probably benign	Het
Aox3	G	A	1: 58,202,605 (GRCm39)		probably null	Het
Arid1a	C	T	4: 133,408,009 (GRCm39)	R2166Q	unknown	Het
Asb4	T	G	6: 5,398,410 (GRCm39)	I125S	probably benign	Het
Aspscr1	T	C	11: 120,580,048 (GRCm39)	S196P	probably benign	Het
Atxn3	A	G	12: 101,908,460 (GRCm39)	F131L	probably benign	Het
B3gnt5	T	A	16: 19,587,924 (GRCm39)	Y48N	probably damaging	Het
Bglap3	A	G	3: 88,276,453 (GRCm39)	M35T	possibly damaging	Het
Cabp1	A	T	5: 115,311,267 (GRCm39)	D79E	probably damaging	Het
Cemip2	A	T	19: 21,822,070 (GRCm39)	Q1155L	probably benign	Het
Chd2	C	T	7: 73,102,884 (GRCm39)	R1367Q	probably damaging	Het
Clec5a	T	A	6: 40,561,358 (GRCm39)	Q29L	probably damaging	Het
Cmtr2	T	C	8: 110,947,711 (GRCm39)	L7P	probably benign	Het
Cnbd1	T	C	4: 18,907,026 (GRCm39)	I183V	probably benign	Het
Col7a1	G	A	9: 108,792,341 (GRCm39)	G1297D	unknown	Het
Csnk1g3	G	A	18: 54,039,746 (GRCm39)		probably null	Het
Cyp4a32	A	T	4: 115,463,863 (GRCm39)	N134I	probably damaging	Het
Cyp4f16	CTATG	CTATGTATG	17: 32,769,708 (GRCm39)		probably null	Het
Dst	G	A	1: 34,153,026 (GRCm39)	V56M	probably damaging	Het
Engase	A	T	11: 118,375,727 (GRCm39)	T32S	probably damaging	Het
Golga4	C	A	9: 118,364,508 (GRCm39)	D290E	probably benign	Het
Gtf2a1l	C	A	17: 89,001,743 (GRCm39)	H153N	probably damaging	Het
Hivep1	C	A	13: 42,311,519 (GRCm39)	T1253N	probably damaging	Het
Hps1	T	C	19: 42,750,714 (GRCm39)	S398G	probably benign	Het
Il1r2	T	A	1: 40,144,459 (GRCm39)	F49I	probably damaging	Het
Iqsec1	A	G	6: 90,649,006 (GRCm39)	S808P	probably damaging	Het
Lrrk1	A	G	7: 65,922,776 (GRCm39)	L289P	probably damaging	Het
Magi2	T	A	5: 20,563,943 (GRCm39)	D358E	probably damaging	Het
Man2b2	A	G	5: 36,970,411 (GRCm39)	W832R	probably damaging	Het
Mfsd4a	G	T	1: 131,995,494 (GRCm39)	T46K	probably damaging	Het
N4bp3	G	A	11: 51,535,167 (GRCm39)	R341W	probably damaging	Het
Odad2	T	A	18: 7,222,646 (GRCm39)	H541L	probably benign	Het
Or51f2	T	C	7: 102,526,974 (GRCm39)	S216P	probably damaging	Het
Or8s5	A	T	15: 98,238,209 (GRCm39)	H220Q	possibly damaging	Het
Otof	A	G	5: 30,536,039 (GRCm39)	L1353S	probably benign	Het
Pcsk5	A	T	19: 17,541,246 (GRCm39)	C844*	probably null	Het
Pdk2	T	C	11: 94,922,721 (GRCm39)	Y153C	probably damaging	Het
Pes1	T	C	11: 3,926,075 (GRCm39)	V292A	probably benign	Het
Pex14	T	C	4: 149,047,984 (GRCm39)	T198A	probably benign	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pnpla2	G	A	7: 141,037,324 (GRCm39)	R109H	probably benign	Het
Polh	G	A	17: 46,505,181 (GRCm39)	T145I	probably damaging	Het
Polr3d	A	T	14: 70,677,479 (GRCm39)	V299E	probably benign	Het
Polr3e	C	T	7: 120,540,011 (GRCm39)	T586M	probably benign	Het
Rbm20	T	A	19: 53,802,588 (GRCm39)	F365L	probably benign	Het
Resf1	A	G	6: 149,227,580 (GRCm39)	T209A	probably benign	Het
Rnf213	G	T	11: 119,326,831 (GRCm39)	C1606F	probably damaging	Het
Sipa1l2	A	G	8: 126,195,464 (GRCm39)	V758A	probably damaging	Het
Slc22a16	T	A	10: 40,463,603 (GRCm39)	M451K	probably damaging	Het
Slc28a1	T	C	7: 80,803,265 (GRCm39)	S359P	probably damaging	Het
Slc45a1	G	T	4: 150,728,505 (GRCm39)	F99L	probably damaging	Het
Sp3	A	T	2: 72,768,500 (GRCm39)	N754K	possibly damaging	Het
Taf4b	A	T	18: 14,940,466 (GRCm39)	Q315L	probably damaging	Het
Tcstv2a	T	A	13: 120,725,524 (GRCm39)	W63R	probably damaging	Het
Tmprss15	A	T	16: 78,818,342 (GRCm39)	N544K	probably benign	Het
Tnfsf13b	A	G	8: 10,085,358 (GRCm39)	I283V	probably benign	Het
Tnfsf14	T	A	17: 57,497,605 (GRCm39)	E209V	possibly damaging	Het
Uckl1	T	G	2: 181,214,926 (GRCm39)	S283R	probably benign	Het
Ush1g	T	C	11: 115,209,294 (GRCm39)	D300G	probably damaging	Het
Virma	C	T	4: 11,528,621 (GRCm39)	A1286V	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,509,906 (GRCm39)		probably null	Het
Vmn2r59	A	T	7: 41,695,629 (GRCm39)	M261K	possibly damaging	Het
Vwf	A	T	6: 125,619,212 (GRCm39)	K1297*	probably null	Het
Zdbf2	G	A	1: 63,342,199 (GRCm39)	E193K	possibly damaging	Het
Zfp759	T	G	13: 67,286,830 (GRCm39)	I127S	possibly damaging	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
IGL02104:Fam117b	APN	1	59,988,278 (GRCm39)	missense	probably benign	0.36
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
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

Predicted Primers

PCR Primer
(F):5'- GGCTATGCCACCTTGAAAACTCCTC -3'
(R):5'- TGCGAGTCAAGTCAAACCAAGCAG -3'

Sequencing Primer
(F):5'- GAAAACTCCTCTCCCTCTTCAC -3'
(R):5'- CAGTTTCTGCTAGAGGACCTGAAC -3'

Posted On

2014-03-14