Mutagenetix > Incidental Mutations

Incidental Mutation 'R0455:Fam13b'

39984

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

038655-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R0455 (G1)

Quality Score

201

Status

Validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 34445528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014647] [ENSMUST00000040506] [ENSMUST00000166156]

AlphaFold

Q8K2H3

Predicted Effect

probably benign
Transcript: ENSMUST00000014647

SMART Domains

Protein: ENSMUSP00000014647
Gene: ENSMUSG00000014503

Domain	Start	End	E-Value	Type
transmembrane domain	32	51	N/A	INTRINSIC
Pfam:PKD_channel	75	497	9.8e-129	PFAM
Pfam:Ion_trans	281	490	4.1e-19	PFAM
coiled coil region	523	550	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000040506

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501

Domain	Start	End	E-Value	Type
low complexity region	4	14	N/A	INTRINSIC
RhoGAP	36	209	3.28e-44	SMART
coiled coil region	220	240	N/A	INTRINSIC
low complexity region	280	295	N/A	INTRINSIC
low complexity region	484	495	N/A	INTRINSIC
coiled coil region	507	532	N/A	INTRINSIC
low complexity region	719	726	N/A	INTRINSIC
coiled coil region	778	807	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166156

SMART Domains

Protein: ENSMUSP00000127257
Gene: ENSMUSG00000014503

Domain	Start	End	E-Value	Type
transmembrane domain	32	51	N/A	INTRINSIC
Pfam:PKD_channel	75	497	9.6e-131	PFAM
Pfam:Ion_trans	242	502	4.8e-20	PFAM
coiled coil region	523	550	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,230,983	G342D	possibly damaging	Het
Acvr2b	C	T	9: 119,432,609	R399W	probably damaging	Het
AI464131	G	A	4: 41,499,538	R31*	probably null	Het
Atf6	A	G	1: 170,834,923	V256A	probably benign	Het
Atp2b4	A	T	1: 133,728,716	I732N	probably damaging	Het
C1qtnf9	A	C	14: 60,772,371	Q25H	probably damaging	Het
Ccdc6	T	A	10: 70,142,571		probably benign	Het
Cds2	T	C	2: 132,285,967		probably null	Het
Chdh	A	G	14: 30,034,646	Y343C	probably damaging	Het
Col5a2	T	C	1: 45,382,102		probably benign	Het
Cts3	G	A	13: 61,568,210		probably benign	Het
Cyfip1	T	A	7: 55,892,054	D362E	probably benign	Het
Dsg1b	T	A	18: 20,396,025	S273T	probably benign	Het
Dysf	A	T	6: 84,140,667	H1274L	probably benign	Het
Eva1c	T	C	16: 90,876,098	S187P	probably benign	Het
Fam126b	T	C	1: 58,534,479		probably benign	Het
Fam172a	T	A	13: 77,834,713		probably benign	Het
Fbn2	C	T	18: 58,035,336	G2310S	probably damaging	Het
Fcna	T	C	2: 25,625,508	Y183C	probably damaging	Het
Fnta	T	C	8: 26,001,028	T263A	probably benign	Het
Gm94	T	C	18: 43,781,244	D83G	possibly damaging	Het
Gnal	C	T	18: 67,135,649		probably benign	Het
Grb7	T	G	11: 98,452,188	S244A	probably benign	Het
Grm3	T	C	5: 9,512,477	T458A	probably benign	Het
Hdac2	C	T	10: 36,991,836	R193C	probably damaging	Het
Ighmbp2	T	C	19: 3,265,072	R783G	probably benign	Het
Inpp5j	G	T	11: 3,503,122	L43I	possibly damaging	Het
Itga11	A	T	9: 62,696,961	T44S	probably damaging	Het
Itsn1	C	T	16: 91,868,148		probably benign	Het
Kdm6b	G	T	11: 69,406,996	C233*	probably null	Het
Lamb3	T	C	1: 193,343,392	L1130P	probably damaging	Het
Lrch3	T	C	16: 32,986,880	F508L	probably damaging	Het
Lrrd1	T	A	5: 3,866,425	V814E	probably benign	Het
Megf10	C	T	18: 57,252,982	P356S	probably benign	Het
Naip1	A	T	13: 100,423,219	D1092E	probably benign	Het
Nus1	T	A	10: 52,430,094	V42E	probably damaging	Het
Olfr435	A	C	6: 43,202,072	M143L	probably benign	Het
Olfr739	A	G	14: 50,424,902	I128V	possibly damaging	Het
Padi3	T	C	4: 140,795,713	N306S	probably damaging	Het
Pex13	T	C	11: 23,655,949	S94G	probably benign	Het
Ppm1h	G	T	10: 122,802,324	Q166H	probably benign	Het
Ptafr	A	T	4: 132,580,085	Y262F	probably benign	Het
Rabgap1	T	A	2: 37,487,120	D321E	probably damaging	Het
Samsn1	C	T	16: 75,945,225		noncoding transcript	Het
Scarb1	T	C	5: 125,289,681	N63D	probably damaging	Het
Serpinb7	T	C	1: 107,451,610	I249T	possibly damaging	Het
Srpr	A	G	9: 35,214,981	K490R	probably benign	Het
Sycn	A	G	7: 28,540,973	N22D	probably benign	Het
Tarbp1	C	T	8: 126,440,873	A1067T	probably benign	Het
Tex14	A	G	11: 87,514,305	D681G	possibly damaging	Het
Usp34	C	T	11: 23,446,741		probably benign	Het
Vmn2r107	T	C	17: 20,374,823		probably benign	Het
Vwde	A	T	6: 13,187,529	M653K	probably benign	Het
Wrap73	T	A	4: 154,148,743	S125T	possibly damaging	Het

Other mutations in Fam13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Fam13b	APN	18	34487096	missense	possibly damaging	0.92
IGL00402:Fam13b	APN	18	34454718	missense	probably damaging	1.00
IGL00556:Fam13b	APN	18	34497435	missense	probably damaging	0.99
IGL02123:Fam13b	APN	18	34445618	unclassified	probably benign
IGL02313:Fam13b	APN	18	34454656	missense	probably damaging	1.00
IGL02346:Fam13b	APN	18	34462105	missense	probably benign	0.00
IGL02347:Fam13b	APN	18	34454704	missense	probably damaging	1.00
IGL02694:Fam13b	APN	18	34451206	critical splice donor site	probably null
IGL03347:Fam13b	APN	18	34462051	splice site	probably benign
R0109:Fam13b	UTSW	18	34451308	missense	probably benign	0.00
R0233:Fam13b	UTSW	18	34448084	missense	probably damaging	1.00
R1229:Fam13b	UTSW	18	34445583	missense	probably benign	0.05
R1397:Fam13b	UTSW	18	34445583	missense	probably benign	0.05
R1571:Fam13b	UTSW	18	34497432	missense	possibly damaging	0.92
R1703:Fam13b	UTSW	18	34451439	critical splice acceptor site	probably null
R1732:Fam13b	UTSW	18	34487134	missense	probably benign	0.04
R1777:Fam13b	UTSW	18	34457760	missense	possibly damaging	0.84
R1956:Fam13b	UTSW	18	34445329	missense	possibly damaging	0.69
R2296:Fam13b	UTSW	18	34494761	missense	possibly damaging	0.88
R3881:Fam13b	UTSW	18	34462059	critical splice donor site	probably null
R3896:Fam13b	UTSW	18	34462955	splice site	probably benign
R5277:Fam13b	UTSW	18	34462190	missense	probably benign
R5759:Fam13b	UTSW	18	34497435	missense	probably damaging	0.99
R5817:Fam13b	UTSW	18	34457797	missense	possibly damaging	0.93
R5897:Fam13b	UTSW	18	34454081	missense	possibly damaging	0.83
R6009:Fam13b	UTSW	18	34497405	missense	possibly damaging	0.92
R6020:Fam13b	UTSW	18	34494774	missense	probably damaging	1.00
R6087:Fam13b	UTSW	18	34487139	missense	possibly damaging	0.48
R6151:Fam13b	UTSW	18	34494277	missense	probably damaging	0.96
R6454:Fam13b	UTSW	18	34457662	critical splice donor site	probably null
R6464:Fam13b	UTSW	18	34473631	nonsense	probably null
R6679:Fam13b	UTSW	18	34487022	missense	possibly damaging	0.53
R6723:Fam13b	UTSW	18	34498026	missense	possibly damaging	0.86
R6990:Fam13b	UTSW	18	34497447	missense	possibly damaging	0.92
R7420:Fam13b	UTSW	18	34494611	missense	probably damaging	1.00
R7517:Fam13b	UTSW	18	34494607	missense	probably damaging	0.98
R7534:Fam13b	UTSW	18	34498007	missense	probably damaging	0.97
R7889:Fam13b	UTSW	18	34457691	missense	probably benign	0.00
R8139:Fam13b	UTSW	18	34473633	missense	possibly damaging	0.50
R8776:Fam13b	UTSW	18	34451393	missense	probably damaging	1.00
R8776-TAIL:Fam13b	UTSW	18	34451393	missense	probably damaging	1.00
R8826:Fam13b	UTSW	18	34498017	missense	probably damaging	0.96
R9166:Fam13b	UTSW	18	34462199	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TGATAAGCAGAGATCCCGAGCCAG -3'
(R):5'- GGACTAAGCGCCCTATTAGGTGGAAG -3'

Sequencing Primer
(F):5'- AGAGATCCCGAGCCAGTTTTTC -3'
(R):5'- GCTGTTGTTACAGGGTTCTCCTT -3'

Posted On

2013-05-23