Mutagenetix > Incidental Mutations

Incidental Mutation 'R1571:Fam13b'

186235

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

039610-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R1571 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34497432 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 91 (V91A)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040506
AA Change: V91A

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: V91A

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610524H06Rik	A	G	5: 114,823,311		probably null	Het
Abcd3	T	C	3: 121,792,842	I70V	possibly damaging	Het
Acad10	T	C	5: 121,621,348	Y1024C	probably damaging	Het
Atp2b3	T	G	X: 73,545,106	V701G	probably damaging	Het
Cbfa2t2	T	A	2: 154,500,427	M21K	probably damaging	Het
Cdc25a	C	T	9: 109,881,546	T106I	possibly damaging	Het
Cdhr5	T	C	7: 141,272,170	T190A	probably damaging	Het
Chl1	A	G	6: 103,708,484	T829A	probably benign	Het
Clcn6	T	C	4: 148,012,769	T614A	possibly damaging	Het
Cntln	A	T	4: 84,947,586	R160*	probably null	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dock3	C	A	9: 106,937,959	M1236I	possibly damaging	Het
Eif4g3	T	A	4: 138,120,408	H213Q	probably damaging	Het
Eya1	T	A	1: 14,208,917	H372L	probably damaging	Het
Gm5724	A	T	6: 141,754,409	C132*	probably null	Het
Hat1	T	A	2: 71,434,175	I319K	probably benign	Het
Kcnf1	T	C	12: 17,175,852	N123D	probably benign	Het
Kcns3	C	A	12: 11,091,550	G383W	probably damaging	Het
Kprp	A	T	3: 92,825,382	C120*	probably null	Het
Lama3	T	A	18: 12,539,717	C2456S	probably damaging	Het
Lrp1b	A	T	2: 41,476,646	D539E	probably damaging	Het
Matn3	T	C	12: 8,955,466	L292S	probably damaging	Het
Mbd3l1	T	A	9: 18,484,651	I24N	probably damaging	Het
Med10	T	C	13: 69,810,040	L37P	probably damaging	Het
Mrc1	A	T	2: 14,308,733	H925L	probably damaging	Het
Myo15	T	A	11: 60,518,464	I3219N	probably damaging	Het
Nom1	C	T	5: 29,442,635	Q623*	probably null	Het
Nrm	T	A	17: 35,864,187	W136R	probably damaging	Het
Olfr1098	A	C	2: 86,923,445	V29G	probably benign	Het
Pde7b	T	C	10: 20,413,090	N298S	probably benign	Het
Piezo2	C	T	18: 63,144,919	A305T	possibly damaging	Het
Pimreg	T	C	11: 72,045,216	L175P	possibly damaging	Het
Pkhd1l1	A	G	15: 44,526,841	D1451G	probably benign	Het
Ptpro	A	G	6: 137,378,130	S212G	probably benign	Het
Rhpn1	C	T	15: 75,714,118	R627C	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Rnase4	T	G	14: 51,105,040	F74V	probably damaging	Het
Sbno2	A	G	10: 80,060,392		probably null	Het
Selp	T	C	1: 164,126,607	Y159H	probably damaging	Het
Senp6	A	G	9: 80,093,571	T21A	probably damaging	Het
Slco3a1	T	C	7: 74,504,380	D148G	possibly damaging	Het
Smtn	G	A	11: 3,530,102	P373L	probably benign	Het
Snx20	A	T	8: 88,629,969	L73Q	probably damaging	Het
Sobp	A	G	10: 43,157,946	V128A	possibly damaging	Het
Tcerg1	A	G	18: 42,524,292	T280A	unknown	Het
Tgfbrap1	A	G	1: 43,049,813	V810A	probably benign	Het
Thbs1	C	A	2: 118,119,197	D589E	probably damaging	Het
Tjp2	A	G	19: 24,100,875	Y885H	probably damaging	Het
Tmem109	A	G	19: 10,872,629	S100P	probably damaging	Het
Trim36	T	C	18: 46,172,495	K462E	probably benign	Het
Vmn1r226	A	T	17: 20,688,276	I257F	probably damaging	Het
Vmn2r92	A	G	17: 18,152,090	Y54C	probably damaging	Het
Wdcp	T	A	12: 4,851,924	Y593*	probably null	Het
Wdr59	T	C	8: 111,451,050	S907G	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
R1397:Fam13b	UTSW	18	34445583	missense	probably benign	0.05
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'- ATGCCCATACTCACACAGTGGGAC -3'
(R):5'- GTGGCTAGACACTTGAAGGTGCAG -3'

Sequencing Primer
(F):5'- GATCCAAGAATTTTGCCACTCC -3'
(R):5'- AAGGTGCAGCTTAATTCTTGCC -3'

Posted On

2014-05-09