Mutagenetix > Incidental Mutation

Incidental Mutation 'R6454:Fam13b'

519509

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

044590-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.402) question?

Stock #

R6454 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 34457662 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

probably null
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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.1%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,628	H145P	possibly damaging	Het
Arid2	C	T	15: 96,372,413	T1469I	probably benign	Het
Atp12a	A	G	14: 56,370,833	T93A	probably benign	Het
Atp8a2	A	T	14: 60,008,499		probably null	Het
Casz1	A	T	4: 148,951,495	I1405F	probably damaging	Het
Chrnb3	T	C	8: 27,393,375	S100P	probably damaging	Het
Creld2	T	A	15: 88,823,071	C197*	probably null	Het
Csmd1	A	T	8: 15,921,150	F3055Y	probably damaging	Het
Ddx58	T	A	4: 40,220,456	I476F	probably damaging	Het
Dnah11	T	A	12: 117,916,855	E3843D	probably benign	Het
Dnah14	T	C	1: 181,783,705	S3799P	probably damaging	Het
Dpp9	A	T	17: 56,206,808	L102Q	probably damaging	Het
Eipr1	T	G	12: 28,864,762	I305S	probably damaging	Het
Enpp5	G	A	17: 44,085,264	G356S	probably damaging	Het
Faf1	G	T	4: 109,842,334	A359S	probably benign	Het
Fam46b	A	G	4: 133,480,409	D37G	probably damaging	Het
Gm14496	A	T	2: 181,996,222	N363I	probably damaging	Het
Gm15922	C	G	7: 3,737,320	A301P	probably damaging	Het
Gm5346	G	T	8: 43,626,808	N126K	probably damaging	Het
Grm8	T	G	6: 27,363,776	H580P	possibly damaging	Het
Itih5	T	C	2: 10,240,668	F523L	probably benign	Het
Klhl1	A	T	14: 96,280,091	M383K	possibly damaging	Het
Lgi4	A	T	7: 31,060,132	T38S	probably benign	Het
Myh13	T	A	11: 67,350,365	M856K	probably benign	Het
Myo7a	C	T	7: 98,073,167	V1184M	probably benign	Het
Nlrp9c	G	A	7: 26,385,774	R127C	possibly damaging	Het
Notch2	T	C	3: 98,137,406	I1548T	possibly damaging	Het
Nphs2	T	A	1: 156,318,767	H179Q	probably damaging	Het
Nup153	T	C	13: 46,709,660		probably null	Het
Odf2l	C	A	3: 145,153,420	Q517K	possibly damaging	Het
Olfr1013	A	G	2: 85,770,373	K191E	probably benign	Het
Olfr1254	T	C	2: 89,789,178	Y58C	probably damaging	Het
Olfr1448	T	A	19: 12,920,031	N93Y	probably benign	Het
Olfr149	A	G	9: 39,701,834	*312Q	probably null	Het
Omd	A	T	13: 49,589,869	I132F	probably damaging	Het
Otog	A	G	7: 46,305,817	N544D	probably damaging	Het
Ovol3	A	G	7: 30,235,375	Y29H	probably damaging	Het
Papolb	T	C	5: 142,529,598	K97E	possibly damaging	Het
Pcdhb19	G	T	18: 37,499,269	V706L	probably benign	Het
Plekhm1	G	A	11: 103,377,382	R588C	probably damaging	Het
Pnpla6	G	T	8: 3,537,986	V1062L	probably damaging	Het
Ppp1r9a	T	A	6: 4,905,827	F127L	probably damaging	Het
Rnf5	A	C	17: 34,602,309	C47W	probably damaging	Het
Sbno1	A	T	5: 124,400,847	M517K	probably damaging	Het
Slc44a5	C	T	3: 154,243,159	T188M	probably benign	Het
Smco1	A	G	16: 32,273,223	T40A	possibly damaging	Het
Speer4f2	A	T	5: 17,374,433	I77F	probably damaging	Het
Spem2	A	G	11: 69,817,428	L237P	probably damaging	Het
Spg7	A	G	8: 123,079,423	K291E	possibly damaging	Het
Tiam2	A	T	17: 3,438,663	T749S	probably benign	Het
Tln1	T	C	4: 43,533,866	K2291E	probably damaging	Het
Tm6sf1	A	G	7: 81,876,053	M294V	probably damaging	Het
Tmem35b	T	C	4: 127,129,018	*138R	probably null	Het
Tpst1	A	G	5: 130,102,051	K121E	possibly damaging	Het
Tsc22d2	T	A	3: 58,415,840	V51D	possibly damaging	Het
Tshr	C	A	12: 91,538,549	Q754K	probably benign	Het
Ttc38	T	A	15: 85,838,822	M157K	probably damaging	Het
Ube2g2	T	G	10: 77,634,746		probably benign	Het
Ugt2b37	T	G	5: 87,240,977	D459A	probably damaging	Het
Usp35	A	T	7: 97,311,560	N886K	probably damaging	Het
Usp35	A	T	7: 97,311,644	Y858*	probably null	Het
Wdr33	T	C	18: 31,829,975	V125A	possibly damaging	Het
Xpnpep1	G	A	19: 52,997,879	T506I	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
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
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
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'- GTGAATACATGAGGACTAAACCAC -3'
(R):5'- TGTTTCACAGAGCCGTTTCC -3'

Sequencing Primer
(F):5'- TGAGGACTAAACCACAGGAAC -3'
(R):5'- ACAGAGCCGTTTCCTGCATTTAAG -3'

Posted On

2018-05-24