Mutagenetix > Incidental Mutation

Incidental Mutation 'R1703:Fam13b'

189933

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

039736-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.343) question?

Stock #

R1703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 34451439 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

Meta Mutation Damage Score

0.9489

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.4%

Validation Efficiency

99% (86/87)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 131,343,702	Y401*	probably null	Het
4932415M13Rik	C	A	17: 53,725,037		noncoding transcript	Het
Acoxl	T	A	2: 127,978,772	S81R	probably damaging	Het
Adamtsl4	A	G	3: 95,677,614	C915R	probably damaging	Het
Adgra3	C	T	5: 50,006,775	M287I	probably benign	Het
Afg1l	T	G	10: 42,400,399	D250A	probably damaging	Het
Akap8l	C	T	17: 32,332,483	R511H	probably damaging	Het
Amfr	T	C	8: 93,974,243	T530A	probably benign	Het
Ank2	C	T	3: 126,929,766	V971M	probably damaging	Het
App	A	G	16: 84,965,768	S656P	probably damaging	Het
Arid5a	T	A	1: 36,319,575		probably null	Het
Asic5	T	A	3: 81,999,722	V60D	possibly damaging	Het
Atm	G	T	9: 53,500,700	H1019N	probably benign	Het
Btbd11	A	G	10: 85,387,384	D19G	unknown	Het
Cep250	A	G	2: 155,965,546	K277R	probably benign	Het
Chrna7	C	T	7: 63,099,507	R409H	probably damaging	Het
Chrng	A	T	1: 87,210,906	N419I	possibly damaging	Het
Ciao1	T	C	2: 127,245,819	S199G	probably benign	Het
Clstn2	A	T	9: 97,458,237	M694K	possibly damaging	Het
Cpeb2	A	G	5: 43,233,838		probably benign	Het
Cyp2c69	T	A	19: 39,876,366	I223F	probably benign	Het
Dennd1b	A	T	1: 139,169,754		probably null	Het
Dnah17	A	T	11: 118,026,749	L4162Q	probably damaging	Het
Dnm1	T	C	2: 32,323,451	M506V	probably benign	Het
Ecsit	A	G	9: 22,074,811	V173A	probably damaging	Het
Fgl2	T	A	5: 21,372,732	W6R	possibly damaging	Het
Galnt9	G	A	5: 110,619,172	R503H	probably damaging	Het
Gm884	C	T	11: 103,540,874	V1372I	probably benign	Het
Gramd1a	C	T	7: 31,139,534	V247M	possibly damaging	Het
Grip2	A	T	6: 91,777,398	I632N	probably damaging	Het
Hspg2	T	C	4: 137,559,151	V3627A	probably damaging	Het
Ipo8	T	C	6: 148,789,892	Y660C	probably benign	Het
Isg15	T	C	4: 156,199,808	R88G	possibly damaging	Het
Itgb5	T	A	16: 33,910,500	D388E	probably benign	Het
Jhy	T	C	9: 40,944,837	Y118C	probably damaging	Het
Kalrn	G	A	16: 34,205,326	T931M	probably damaging	Het
Kif21a	A	G	15: 90,949,047		probably null	Het
Lama2	A	T	10: 27,266,671	Y604N	probably damaging	Het
Lrp3	T	G	7: 35,213,161	S34R	possibly damaging	Het
Lyn	T	C	4: 3,738,867		probably null	Het
Mroh8	C	T	2: 157,271,976	V132I	probably benign	Het
Mthfd1l	T	C	10: 4,148,093	F977L	probably damaging	Het
Nol8	C	T	13: 49,667,457	T912M	possibly damaging	Het
Nrxn1	A	T	17: 90,208,417	N169K	probably damaging	Het
Olfr1118	T	C	2: 87,309,410	V207A	probably benign	Het
Olfr1188	T	A	2: 88,560,255	M262K	possibly damaging	Het
Oplah	A	G	15: 76,296,667	Y1279H	probably benign	Het
Pcsk5	T	C	19: 17,752,094	N129S	probably benign	Het
Pcyt2	G	T	11: 120,613,068	P185T	probably benign	Het
Pdlim2	A	G	14: 70,174,335		probably null	Het
Pgs1	T	C	11: 118,014,728		probably benign	Het
Qprt	A	G	7: 127,108,171	V251A	probably benign	Het
Rasal2	A	C	1: 157,157,600	L834R	probably damaging	Het
Reg1	T	C	6: 78,428,449	C161R	probably damaging	Het
Rp1	T	A	1: 4,345,169	I1907F	probably damaging	Het
S1pr5	T	C	9: 21,244,050	D360G	possibly damaging	Het
Sart3	C	A	5: 113,752,219	V482F	probably benign	Het
Scarf2	A	G	16: 17,802,849	E127G	probably damaging	Het
Serinc5	T	C	13: 92,688,797	S245P	probably damaging	Het
Serpinc1	G	T	1: 160,993,517	R57L	probably damaging	Het
Setd2	A	G	9: 110,549,864	S632G	probably benign	Het
Sgca	A	T	11: 94,969,391	L307M	probably damaging	Het
Slc7a9	C	A	7: 35,454,575	Q208K	probably benign	Het
Slfn10-ps	C	T	11: 83,030,043		noncoding transcript	Het
Spam1	A	T	6: 24,796,257	D69V	probably damaging	Het
Tanc1	A	G	2: 59,843,021	E1490G	probably benign	Het
Tbc1d22a	G	T	15: 86,239,215	D150Y	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tlx1	A	G	19: 45,156,004	D55G	possibly damaging	Het
Tram2	G	T	1: 21,004,234	N241K	probably damaging	Het
Ttc23l	T	C	15: 10,523,658	Y325C	probably damaging	Het
Ubac2	T	A	14: 121,905,170	S27T	probably benign	Het
Utrn	G	A	10: 12,727,729		probably benign	Het
Vnn3	A	T	10: 23,865,930	M378L	probably benign	Het
Vps18	T	A	2: 119,289,057	D6E	probably benign	Het
Xkr5	T	A	8: 18,939,118	I253F	probably benign	Het
Yeats4	A	T	10: 117,215,723	C210S	probably benign	Het
Zdhhc20	A	G	14: 57,839,088		probably null	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
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'- GCAGAGCCTACAGCTCAGAATTACC -3'
(R):5'- GCTCTTTTATGAACCCGGCGTTCAC -3'

Sequencing Primer
(F):5'- CCGTTTGGTAATCAGCTCAAGAG -3'
(R):5'- ACTTCTTTTCCATCAGGGTTGTG -3'

Posted On

2014-05-14