Mutagenetix > Incidental Mutation

Incidental Mutation 'R1229:Fam13b'

172441

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

039298-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.323) question?

Stock #

R1229 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34575404-34639884 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34578636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 705 (M705I)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (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
AA Change: M705I

PolyPhen 2 Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: M705I

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

Meta Mutation Damage Score

0.0955

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 15 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid1a	A	C	4: 133,418,548 (GRCm39)	L1012V	unknown	Het
Bzw1	A	G	1: 58,433,378 (GRCm39)	N35S	probably benign	Het
Ccdc93	A	G	1: 121,362,371 (GRCm39)	D51G	probably damaging	Het
Dnah1	A	T	14: 31,032,808 (GRCm39)	M409K	probably benign	Het
Gm1110	T	C	9: 26,793,102 (GRCm39)	Y558C	probably benign	Het
Iqgap2	A	G	13: 95,768,673 (GRCm39)	I1409T	probably benign	Het
Mfsd11	T	C	11: 116,764,123 (GRCm39)	F368S	probably damaging	Het
Neb	C	A	2: 52,133,955 (GRCm39)	V3343F	probably damaging	Het
Nrp1	T	G	8: 129,145,197 (GRCm39)	Y84*	probably null	Het
Or4n5	G	A	14: 50,132,711 (GRCm39)	Q183*	probably null	Het
Pate2	T	A	9: 35,580,991 (GRCm39)	F2I	probably damaging	Het
Pla2r1	T	A	2: 60,365,106 (GRCm39)	T155S	probably benign	Het
Slc28a2	T	A	2: 122,291,012 (GRCm39)	C659*	probably null	Het
Tram1	T	C	1: 13,639,776 (GRCm39)	R324G	probably damaging	Het
Wdr19	A	T	5: 65,413,734 (GRCm39)	I1226F	possibly damaging	Het

Other mutations in Fam13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Fam13b	APN	18	34,620,149 (GRCm39)	missense	possibly damaging	0.92
IGL00402:Fam13b	APN	18	34,587,771 (GRCm39)	missense	probably damaging	1.00
IGL00556:Fam13b	APN	18	34,630,488 (GRCm39)	missense	probably damaging	0.99
IGL02123:Fam13b	APN	18	34,578,671 (GRCm39)	unclassified	probably benign
IGL02313:Fam13b	APN	18	34,587,709 (GRCm39)	missense	probably damaging	1.00
IGL02346:Fam13b	APN	18	34,595,158 (GRCm39)	missense	probably benign	0.00
IGL02347:Fam13b	APN	18	34,587,757 (GRCm39)	missense	probably damaging	1.00
IGL02694:Fam13b	APN	18	34,584,259 (GRCm39)	critical splice donor site	probably null
IGL03347:Fam13b	APN	18	34,595,104 (GRCm39)	splice site	probably benign
R0109:Fam13b	UTSW	18	34,584,361 (GRCm39)	missense	probably benign	0.00
R0233:Fam13b	UTSW	18	34,581,137 (GRCm39)	missense	probably damaging	1.00
R0455:Fam13b	UTSW	18	34,578,581 (GRCm39)	unclassified	probably benign
R1397:Fam13b	UTSW	18	34,578,636 (GRCm39)	missense	probably benign	0.05
R1571:Fam13b	UTSW	18	34,630,485 (GRCm39)	missense	possibly damaging	0.92
R1703:Fam13b	UTSW	18	34,584,492 (GRCm39)	critical splice acceptor site	probably null
R1732:Fam13b	UTSW	18	34,620,187 (GRCm39)	missense	probably benign	0.04
R1777:Fam13b	UTSW	18	34,590,813 (GRCm39)	missense	possibly damaging	0.84
R1956:Fam13b	UTSW	18	34,578,382 (GRCm39)	missense	possibly damaging	0.69
R2296:Fam13b	UTSW	18	34,627,814 (GRCm39)	missense	possibly damaging	0.88
R3881:Fam13b	UTSW	18	34,595,112 (GRCm39)	critical splice donor site	probably null
R3896:Fam13b	UTSW	18	34,596,008 (GRCm39)	splice site	probably benign
R5277:Fam13b	UTSW	18	34,595,243 (GRCm39)	missense	probably benign
R5759:Fam13b	UTSW	18	34,630,488 (GRCm39)	missense	probably damaging	0.99
R5817:Fam13b	UTSW	18	34,590,850 (GRCm39)	missense	possibly damaging	0.93
R5897:Fam13b	UTSW	18	34,587,134 (GRCm39)	missense	possibly damaging	0.83
R6009:Fam13b	UTSW	18	34,630,458 (GRCm39)	missense	possibly damaging	0.92
R6020:Fam13b	UTSW	18	34,627,827 (GRCm39)	missense	probably damaging	1.00
R6087:Fam13b	UTSW	18	34,620,192 (GRCm39)	missense	possibly damaging	0.48
R6151:Fam13b	UTSW	18	34,627,330 (GRCm39)	missense	probably damaging	0.96
R6454:Fam13b	UTSW	18	34,590,715 (GRCm39)	critical splice donor site	probably null
R6464:Fam13b	UTSW	18	34,606,684 (GRCm39)	nonsense	probably null
R6679:Fam13b	UTSW	18	34,620,075 (GRCm39)	missense	possibly damaging	0.53
R6723:Fam13b	UTSW	18	34,631,079 (GRCm39)	missense	possibly damaging	0.86
R6990:Fam13b	UTSW	18	34,630,500 (GRCm39)	missense	possibly damaging	0.92
R7420:Fam13b	UTSW	18	34,627,664 (GRCm39)	missense	probably damaging	1.00
R7517:Fam13b	UTSW	18	34,627,660 (GRCm39)	missense	probably damaging	0.98
R7534:Fam13b	UTSW	18	34,631,060 (GRCm39)	missense	probably damaging	0.97
R7889:Fam13b	UTSW	18	34,590,744 (GRCm39)	missense	probably benign	0.00
R8139:Fam13b	UTSW	18	34,606,686 (GRCm39)	missense	possibly damaging	0.50
R8776:Fam13b	UTSW	18	34,584,446 (GRCm39)	missense	probably damaging	1.00
R8776-TAIL:Fam13b	UTSW	18	34,584,446 (GRCm39)	missense	probably damaging	1.00
R8826:Fam13b	UTSW	18	34,631,070 (GRCm39)	missense	probably damaging	0.96
R9166:Fam13b	UTSW	18	34,595,252 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AGGTTGCCCTCTGACCTCTACACAC -3'
(R):5'- TTTAGCTGCTGGGGACTAAGCGCC -3'

Sequencing Primer
(F):5'- ttccatccacagcaccag -3'
(R):5'- ACTAAGCGCCCTATTAGGTGG -3'

Posted On

2014-04-24