Mutagenetix > Incidental Mutation

Incidental Mutation 'R6723:Fam13b'

529726

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

044841-MU

Accession Numbers

Essential gene?

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

Stock #

R6723 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34498026 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 33 (H33Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040506
AA Change: H33Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: H33Q

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: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	C	10: 82,289,823	Y2451C	possibly damaging	Het
Ahnak2	A	G	12: 112,778,793	S740P	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Bcl11a	C	A	11: 24,163,646	P330T	probably damaging	Het
Cyp2d12	A	T	15: 82,556,884	I124F	probably benign	Het
Dhdds	T	C	4: 133,994,265	T74A	probably damaging	Het
Dio3	G	A	12: 110,279,557	C109Y	possibly damaging	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dock7	A	G	4: 99,003,916	V811A	possibly damaging	Het
Efcab3	A	T	11: 105,117,080	T329S	possibly damaging	Het
Esp1	A	T	17: 40,728,856	I11L	probably benign	Het
Fam13c	G	A	10: 70,554,525	D539N	probably damaging	Het
Fgd5	A	G	6: 91,988,030	T257A	probably benign	Het
Gm5134	A	G	10: 76,008,619	D603G	probably benign	Het
Gtpbp2	T	C	17: 46,168,276	V588A	probably benign	Het
Ift140	A	G	17: 25,033,116	I312M	probably benign	Het
Inpp5j	T	C	11: 3,500,640	N571S	probably damaging	Het
Iqgap1	T	G	7: 80,723,822	D1473A	probably benign	Het
Ivl	T	G	3: 92,571,387	K457T	unknown	Het
Kdm3b	T	C	18: 34,793,005	I66T	probably damaging	Het
Kif21a	A	T	15: 90,940,446	M1430K	probably damaging	Het
Klhl25	T	A	7: 75,865,991	L215Q	possibly damaging	Het
Lim2	T	A	7: 43,435,675	M163K	probably benign	Het
Lrig1	T	C	6: 94,626,405	D254G	probably damaging	Het
Mff	A	G	1: 82,751,666	I122V	possibly damaging	Het
Mrpl15	A	C	1: 4,782,566		probably null	Het
Mylk	A	G	16: 34,929,888	Y1199C	possibly damaging	Het
Nlrp3	G	A	11: 59,565,192	C938Y	probably damaging	Het
Notch1	T	C	2: 26,478,106	N623D	probably damaging	Het
Obscn	T	G	11: 59,054,998	E4129A	probably damaging	Het
Olfr1221	G	T	2: 89,112,296	T72N	possibly damaging	Het
Olfr1423	A	G	19: 12,036,275	S156P	probably damaging	Het
Olfr173	T	C	16: 58,797,432	K138R	probably benign	Het
Olfr517	A	T	7: 108,868,588	C189S	probably damaging	Het
Olfr808	A	T	10: 129,768,415	L306F	probably benign	Het
Parm1	C	T	5: 91,622,997	P291S	probably damaging	Het
Pcsk1	T	A	13: 75,093,069		probably null	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Piezo1	T	G	8: 122,507,627	Q93H	probably benign	Het
Pkd2l2	A	T	18: 34,438,157	Y575F	probably damaging	Het
Plekhn1	A	C	4: 156,224,569	F258C	probably damaging	Het
Pole	C	T	5: 110,323,616	H1409Y	probably benign	Het
Rae1	T	C	2: 173,012,248	I273T	probably damaging	Het
Rag1	A	G	2: 101,643,645	V384A	probably damaging	Het
Rnaseh1	T	C	12: 28,649,762	L25P	probably damaging	Het
Serpinb12	A	G	1: 106,949,158	H68R	probably benign	Het
Sh3tc2	A	T	18: 61,977,954	I294F	probably damaging	Het
Sirpb1b	A	C	3: 15,548,798	L75V	possibly damaging	Het
Slc12a6	A	T	2: 112,337,942	T277S	probably damaging	Het
Slc7a12	A	T	3: 14,499,197	E43D	probably benign	Het
Spata31d1c	T	A	13: 65,035,944	D433E	probably benign	Het
Tbl2	A	T	5: 135,159,276	Y308F	probably damaging	Het
Tfec	T	C	6: 16,835,302	Y159C	probably damaging	Het
Tmem8	C	A	17: 26,120,636	T616N	probably damaging	Het
Top1mt	G	T	15: 75,667,433	T371K	probably benign	Het
Trim24	T	C	6: 37,951,468	V541A	probably benign	Het
Ttc16	T	C	2: 32,768,037	Y456C	possibly damaging	Het
Ttn	G	A	2: 76,770,097	R17204*	probably null	Het
Ugt1a6b	T	C	1: 88,107,717	V259A	probably benign	Het
Unc5a	T	C	13: 54,995,889	W129R	probably benign	Het
Vmn1r63	T	A	7: 5,802,949	H228L	probably damaging	Het
Whamm	G	T	7: 81,596,120	V775F	probably damaging	Het
Zfc3h1	T	A	10: 115,420,733	I1536N	probably benign	Het
Zfp1	T	C	8: 111,670,339	S317P	probably damaging	Het
Zfp58	T	C	13: 67,494,073	T52A	probably damaging	Het

Other mutations in Fam13b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Fam13b	APN	18	34,487,096 (GRCm38)	missense	possibly damaging	0.92
IGL00402:Fam13b	APN	18	34,454,718 (GRCm38)	missense	probably damaging	1.00
IGL00556:Fam13b	APN	18	34,497,435 (GRCm38)	missense	probably damaging	0.99
IGL02123:Fam13b	APN	18	34,445,618 (GRCm38)	unclassified	probably benign
IGL02313:Fam13b	APN	18	34,454,656 (GRCm38)	missense	probably damaging	1.00
IGL02346:Fam13b	APN	18	34,462,105 (GRCm38)	missense	probably benign	0.00
IGL02347:Fam13b	APN	18	34,454,704 (GRCm38)	missense	probably damaging	1.00
IGL02694:Fam13b	APN	18	34,451,206 (GRCm38)	critical splice donor site	probably null
IGL03347:Fam13b	APN	18	34,462,051 (GRCm38)	splice site	probably benign
R0109:Fam13b	UTSW	18	34,451,308 (GRCm38)	missense	probably benign	0.00
R0233:Fam13b	UTSW	18	34,448,084 (GRCm38)	missense	probably damaging	1.00
R0455:Fam13b	UTSW	18	34,445,528 (GRCm38)	unclassified	probably benign
R1229:Fam13b	UTSW	18	34,445,583 (GRCm38)	missense	probably benign	0.05
R1397:Fam13b	UTSW	18	34,445,583 (GRCm38)	missense	probably benign	0.05
R1571:Fam13b	UTSW	18	34,497,432 (GRCm38)	missense	possibly damaging	0.92
R1703:Fam13b	UTSW	18	34,451,439 (GRCm38)	critical splice acceptor site	probably null
R1732:Fam13b	UTSW	18	34,487,134 (GRCm38)	missense	probably benign	0.04
R1777:Fam13b	UTSW	18	34,457,760 (GRCm38)	missense	possibly damaging	0.84
R1956:Fam13b	UTSW	18	34,445,329 (GRCm38)	missense	possibly damaging	0.69
R2296:Fam13b	UTSW	18	34,494,761 (GRCm38)	missense	possibly damaging	0.88
R3881:Fam13b	UTSW	18	34,462,059 (GRCm38)	critical splice donor site	probably null
R3896:Fam13b	UTSW	18	34,462,955 (GRCm38)	splice site	probably benign
R5277:Fam13b	UTSW	18	34,462,190 (GRCm38)	missense	probably benign
R5759:Fam13b	UTSW	18	34,497,435 (GRCm38)	missense	probably damaging	0.99
R5817:Fam13b	UTSW	18	34,457,797 (GRCm38)	missense	possibly damaging	0.93
R5897:Fam13b	UTSW	18	34,454,081 (GRCm38)	missense	possibly damaging	0.83
R6009:Fam13b	UTSW	18	34,497,405 (GRCm38)	missense	possibly damaging	0.92
R6020:Fam13b	UTSW	18	34,494,774 (GRCm38)	missense	probably damaging	1.00
R6087:Fam13b	UTSW	18	34,487,139 (GRCm38)	missense	possibly damaging	0.48
R6151:Fam13b	UTSW	18	34,494,277 (GRCm38)	missense	probably damaging	0.96
R6454:Fam13b	UTSW	18	34,457,662 (GRCm38)	critical splice donor site	probably null
R6464:Fam13b	UTSW	18	34,473,631 (GRCm38)	nonsense	probably null
R6679:Fam13b	UTSW	18	34,487,022 (GRCm38)	missense	possibly damaging	0.53
R6990:Fam13b	UTSW	18	34,497,447 (GRCm38)	missense	possibly damaging	0.92
R7420:Fam13b	UTSW	18	34,494,611 (GRCm38)	missense	probably damaging	1.00
R7517:Fam13b	UTSW	18	34,494,607 (GRCm38)	missense	probably damaging	0.98
R7534:Fam13b	UTSW	18	34,498,007 (GRCm38)	missense	probably damaging	0.97
R7889:Fam13b	UTSW	18	34,457,691 (GRCm38)	missense	probably benign	0.00
R8139:Fam13b	UTSW	18	34,473,633 (GRCm38)	missense	possibly damaging	0.50
R8776:Fam13b	UTSW	18	34,451,393 (GRCm38)	missense	probably damaging	1.00
R8776-TAIL:Fam13b	UTSW	18	34,451,393 (GRCm38)	missense	probably damaging	1.00
R8826:Fam13b	UTSW	18	34,498,017 (GRCm38)	missense	probably damaging	0.96
R9166:Fam13b	UTSW	18	34,462,199 (GRCm38)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GGGTAACTGCCATTTCCAGG -3'
(R):5'- AGTGCACATTCAGGTGTAAAAGC -3'

Sequencing Primer
(F):5'- GGGTAACTGCCATTTCCAGGTAAATC -3'
(R):5'- ATGTATTTACTCATATTGCCACCTG -3'

Posted On

2018-08-01