Mutagenetix > Incidental Mutations

Incidental Mutation 'R5897:Fam13b'

457616

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

044096-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R5897 (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 34454081 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 542 (V542A)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040506
AA Change: V542A

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: V542A

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: 99.8%
3x: 99.4%
10x: 97.0%
20x: 90.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	T	C	5: 31,485,964		probably benign	Het
5430419D17Rik	A	T	7: 131,196,551		probably null	Het
Abi3bp	A	G	16: 56,604,669	T489A	possibly damaging	Het
Adam3	T	C	8: 24,697,228	T416A	probably benign	Het
Agbl3	A	G	6: 34,803,573	I494V	probably benign	Het
Akap9	T	C	5: 4,077,904	S3747P	probably benign	Het
Arhgef18	G	T	8: 3,439,682	R338L	probably damaging	Het
Atg16l1	G	T	1: 87,785,997		probably null	Het
BC024139	A	G	15: 76,126,139	S56P	possibly damaging	Het
Ccdc175	T	A	12: 72,159,804	I223L	probably benign	Het
Cep76	T	A	18: 67,638,328	Q78L	probably benign	Het
Cyp20a1	A	C	1: 60,353,061	N92T	probably damaging	Het
Cyp2c68	T	C	19: 39,712,531	D281G	probably benign	Het
Cyp2j12	T	C	4: 96,102,042	N429S	probably damaging	Het
Dchs2	G	A	3: 83,285,410	V1721I	possibly damaging	Het
Elovl4	G	A	9: 83,790,104	T54M	possibly damaging	Het
Gje1	A	T	10: 14,716,723	I105N	probably damaging	Het
Grm4	G	T	17: 27,435,163	F349L	probably benign	Het
Hsd17b3	A	G	13: 64,088,985		probably null	Het
Khdrbs1	A	T	4: 129,720,655	D368E	probably benign	Het
Klra10	T	A	6: 130,281,829	R32*	probably null	Het
Lrrc7	T	A	3: 158,164,353	I644F	probably damaging	Het
Olfr31	G	T	14: 14,328,120	G3V	probably benign	Het
Olfr94	A	T	17: 37,197,260	L161Q	probably damaging	Het
Otogl	G	A	10: 107,777,117		silent	Het
Pbx3	A	T	2: 34,371,908	S5T	probably benign	Het
Pcdhb13	T	A	18: 37,443,211	V214E	probably benign	Het
Pkd1l1	T	C	11: 8,879,176	D1022G	probably benign	Het
Pla2g4a	T	A	1: 149,865,148	K380I	probably damaging	Het
Prl3b1	A	G	13: 27,245,875	T99A	probably benign	Het
Prr12	C	T	7: 45,043,384	V1575I	probably damaging	Het
Ptpn5	C	T	7: 47,079,514	V451I	probably benign	Het
Rab1a	C	T	11: 20,218,867	R51*	probably null	Het
Skint9	A	G	4: 112,413,916	I99T	possibly damaging	Het
Tbc1d8	A	G	1: 39,392,109	V394A	possibly damaging	Het
Tcf20	A	T	15: 82,851,783	C1822*	probably null	Het
Tdrd6	T	A	17: 43,624,877	D1760V	probably damaging	Het
Tinag	C	A	9: 77,045,444	C86F	probably damaging	Het
Tmtc2	A	T	10: 105,413,598	N91K	probably damaging	Het
Tmub1	G	A	5: 24,446,927	T13M	probably benign	Het
Txn2	G	A	15: 77,924,526	A135V	probably benign	Het
Ush2a	G	A	1: 188,821,738	G3475R	probably damaging	Het
Usp38	T	C	8: 81,005,453	D276G	probably benign	Het
Vax1	T	A	19: 59,169,801	I77F	unknown	Het
Vmn2r108	C	T	17: 20,471,318	M314I	probably benign	Het
Vmn2r4	C	A	3: 64,415,266	G11*	probably null	Het
Zcchc14	T	C	8: 121,605,160		probably benign	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
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'- CTCTATGGAGACCAGACTGACC -3'
(R):5'- ATGACCTGCTTTAGAAGAGCTTG -3'

Sequencing Primer
(F):5'- AAGAGATCTGCCTGCCTCTG -3'
(R):5'- GACCTGCTTTAGAAGAGCTTGATATC -3'

Posted On

2017-02-15