Mutagenetix > Incidental Mutation

Incidental Mutation 'R1732:Fam13b'

199431

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

039764-MU

Accession Numbers

Essential gene?

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

Stock #

R1732 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 34487134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 232 (N232K)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

probably benign
Transcript: ENSMUST00000040506
AA Change: N232K

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: N232K

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

0.0920

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

99% (78/79)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	C	A	12: 71,219,221	Q1445K	probably benign	Het
Acacb	A	T	5: 114,190,087	M303L	possibly damaging	Het
Actl9	T	C	17: 33,433,122	V52A	probably damaging	Het
Adam7	T	C	14: 68,498,450	T781A	probably benign	Het
Agpat4	T	C	17: 12,216,728	V293A	probably benign	Het
Ank1	T	A	8: 23,111,463		probably benign	Het
Atp1a1	C	A	3: 101,584,799	G587V	probably damaging	Het
Avpr1b	T	C	1: 131,600,254	F172L	probably damaging	Het
Bmp1	A	T	14: 70,486,265	D710E	possibly damaging	Het
Cep126	A	T	9: 8,099,761	I924N	probably benign	Het
Chek2	G	T	5: 110,872,102	A517S	probably benign	Het
Cmbl	A	T	15: 31,588,232	E165D	probably damaging	Het
Cntnap3	A	T	13: 64,740,812		probably null	Het
Col1a1	A	T	11: 94,944,415		probably benign	Het
Ctbp2	T	C	7: 132,998,924	M624V	possibly damaging	Het
Cwc15	A	G	9: 14,510,247	D203G	probably benign	Het
Cyld	C	T	8: 88,731,667		probably benign	Het
Cyp3a57	A	T	5: 145,365,645	I84F	probably damaging	Het
Dennd3	T	A	15: 73,537,418		probably benign	Het
Desi2	A	C	1: 178,256,651		probably benign	Het
Dmxl1	T	A	18: 49,893,444	L1873*	probably null	Het
Dmxl1	T	A	18: 49,902,988	H2359Q	probably benign	Het
Ephb4	A	G	5: 137,372,178	N880S	possibly damaging	Het
F10	T	C	8: 13,050,764	L214P	probably damaging	Het
F5	G	A	1: 164,174,150	V141M	probably damaging	Het
Fam135a	A	T	1: 24,026,653	S1022T	possibly damaging	Het
Fyco1	T	C	9: 123,819,092	E1259G	probably benign	Het
Gak	A	T	5: 108,576,582	D1087E	probably benign	Het
Gm7138	A	T	10: 77,776,848		probably benign	Het
Gm8674	T	A	13: 49,901,926		noncoding transcript	Het
Gpr25	A	G	1: 136,260,128	V249A	probably benign	Het
Hcn3	T	C	3: 89,148,119	H607R	probably damaging	Het
Hdac4	T	A	1: 91,947,535	T905S	probably benign	Het
Itgad	T	C	7: 128,205,107	S86P	probably benign	Het
Itgb4	G	T	11: 115,988,918	R632L	probably damaging	Het
Kcnb2	A	T	1: 15,709,755	T284S	probably benign	Het
Klhl22	T	A	16: 17,777,024	M339K	probably damaging	Het
Lonrf2	G	A	1: 38,813,276	P165S	probably benign	Het
Mybpc2	C	A	7: 44,513,675	V484L	probably benign	Het
Noa1	A	T	5: 77,306,374	V473E	probably benign	Het
Nwd1	C	G	8: 72,666,835	S242C	possibly damaging	Het
Olfr545	C	A	7: 102,494,040	C245F	probably damaging	Het
Olfr868	A	G	9: 20,101,500	H247R	probably damaging	Het
Otof	A	T	5: 30,386,471	W535R	probably damaging	Het
Peg3	T	C	7: 6,709,085	E1046G	possibly damaging	Het
Phldb2	T	C	16: 45,757,166	E1132G	probably damaging	Het
Phtf2	A	T	5: 20,789,627		probably null	Het
Plce1	G	T	19: 38,716,838	A896S	possibly damaging	Het
Prim1	T	C	10: 128,015,324	Y26H	probably damaging	Het
Prr12	T	A	7: 45,048,356	T712S	unknown	Het
Psme4	G	A	11: 30,848,105	R1366H	probably benign	Het
Ptpdc1	T	C	13: 48,586,545	E409G	probably benign	Het
Rabep1	A	G	11: 70,904,641	N274S	probably damaging	Het
Rbm14	A	G	19: 4,803,467	S296P	probably benign	Het
Rec114	A	G	9: 58,653,106	S206P	probably damaging	Het
Rps6ka1	A	T	4: 133,860,070	Y531N	probably damaging	Het
Slc28a2	T	C	2: 122,449,758		probably benign	Het
Slc34a1	A	G	13: 55,413,420	H566R	probably benign	Het
Slc9c1	A	G	16: 45,552,928	T290A	probably benign	Het
Smarcc1	T	A	9: 110,185,820		probably benign	Het
Srp54b	T	A	12: 55,252,759		probably null	Het
Stambpl1	C	G	19: 34,226,721	N70K	probably damaging	Het
Synj1	T	C	16: 90,964,230	K710E	probably damaging	Het
Tenm3	T	A	8: 48,310,634	D795V	probably damaging	Het
Tgm2	T	C	2: 158,134,357	Y149C	probably damaging	Het
Tmem151a	C	A	19: 5,082,867	A104S	probably damaging	Het
Top1mt	A	G	15: 75,666,251		probably null	Het
Tpgs1	T	A	10: 79,675,594	L190Q	possibly damaging	Het
Triobp	T	A	15: 78,967,228	H527Q	possibly damaging	Het
Tspan2	A	G	3: 102,768,877	I197V	probably damaging	Het
Ube3b	A	G	5: 114,387,445	I76V	probably benign	Het
Vmn1r32	A	T	6: 66,553,301	S164T	probably benign	Het
Zfp607a	G	T	7: 27,878,459	C318F	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
R1571:Fam13b	UTSW	18	34497432	missense	possibly damaging	0.92
R1703:Fam13b	UTSW	18	34451439	critical splice acceptor site	probably null
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'- AAGCTCGTCTCTTGTGCTTGAGTC -3'
(R):5'- TGTCCTGCATCAAAATGCTGTTTGTC -3'

Sequencing Primer
(F):5'- GTGCTTGAGTCTACAGTGAAAG -3'
(R):5'- GCACTTTATAGGAGAGACTGGATTAG -3'

Posted On

2014-05-23