Mutagenetix > Incidental Mutation

Incidental Mutation 'R1397:Fam13b'

160206

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

039459-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

R1397 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 34445583 bp (GRCm38)

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: 98.8%
3x: 97.8%
10x: 94.6%
20x: 87.0%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	C	17: 24,285,759	E1222G	probably benign	Het
Amph	G	A	13: 19,142,028	V643M	probably damaging	Het
Ankmy2	T	C	12: 36,170,441		probably benign	Het
Arhgef10l	C	T	4: 140,544,443	G827D	probably damaging	Het
Chrac1	A	G	15: 73,090,444	D3G	possibly damaging	Het
Dmrtb1	G	C	4: 107,677,039	P349R	probably damaging	Het
Drd1	A	G	13: 54,053,554	Y207H	probably damaging	Het
Dync1h1	G	A	12: 110,636,509	E2195K	probably benign	Het
Epb41l3	T	A	17: 69,262,348		probably null	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Iqgap2	A	G	13: 95,632,165	I1409T	probably benign	Het
Itih1	C	T	14: 30,929,905		probably benign	Het
Itih5	A	T	2: 10,240,807	D569V	probably benign	Het
Krt9	A	T	11: 100,192,638	L189Q	probably damaging	Het
Mfsd11	T	C	11: 116,873,297	F368S	probably damaging	Het
Neb	C	A	2: 52,243,943	V3343F	probably damaging	Het
Nfe2l3	T	C	6: 51,433,294	S130P	probably benign	Het
Nid1	G	A	13: 13,508,795	A1153T	possibly damaging	Het
Nr2c2	T	C	6: 92,149,764	I78T	probably benign	Het
Nrp1	T	G	8: 128,418,716	Y84*	probably null	Het
Pate2	T	A	9: 35,669,695	F2I	probably damaging	Het
Pign	A	G	1: 105,657,771	S18P	probably damaging	Het
Pla2r1	T	A	2: 60,534,762	T155S	probably benign	Het
Rabl3	C	T	16: 37,539,974		probably benign	Het
Rhbg	C	T	3: 88,248,446	V66I	probably benign	Het
Rimkla	C	T	4: 119,468,111	G367E	probably benign	Het
Rnpepl1	C	A	1: 92,917,159	T391N	probably damaging	Het
Rnps1	C	T	17: 24,412,057		probably benign	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Slc25a48	A	C	13: 56,465,051	D254A	probably damaging	Het
Slc28a2	T	A	2: 122,460,531	C659*	probably null	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Spata31d1a	C	T	13: 59,705,039		probably benign	Het
Srrm1	A	C	4: 135,321,431		probably benign	Het
Srrt	A	G	5: 137,300,261	V247A	possibly damaging	Het
Tnks2	T	C	19: 36,880,501		probably benign	Het
Trim33	A	G	3: 103,310,434		probably benign	Het
Trim42	T	A	9: 97,365,621	I341F	probably damaging	Het
Trim55	T	C	3: 19,644,637	F10S	probably benign	Het
Trpm1	T	C	7: 64,217,658	W369R	probably damaging	Het
Vps13d	C	T	4: 145,141,334	R1976H	probably 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
R0455:Fam13b	UTSW	18	34445528	unclassified	probably benign
R1229: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'- GCACGCATCCCTCTTGTCAGAGAAG -3'
(R):5'- TTTAGCTGCTGGGGACTAAGCGCC -3'

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

Posted On

2014-03-14