Mutagenetix > Incidental Mutation

Incidental Mutation 'R0233:Fam13b'

58937

Institutional Source

Beutler Lab

Gene Symbol

Fam13b

Ensembl Gene

ENSMUSG00000036501

Gene Name

family with sequence similarity 13, member B

Synonyms

2610024E20Rik

MMRRC Submission

038474-MU

Accession Numbers

Essential gene?

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

Stock #

R0233 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34442352-34506823 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 34448084 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 675 (Y675F)

Ref Sequence

ENSEMBL: ENSMUSP00000038199 (fasta)

Gene Model

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

AlphaFold

Q8K2H3

Predicted Effect

probably damaging
Transcript: ENSMUST00000040506
AA Change: Y675F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: Y675F

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

0.5672

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.4%

Validation Efficiency

99% (93/94)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	G	14: 32,663,373	S212P	probably benign	Het
4932438A13Rik	T	A	3: 36,948,563	C1552*	probably null	Het
A730018C14Rik	A	C	12: 112,415,430		noncoding transcript	Het
Acsf3	A	G	8: 122,780,292	Y108C	probably damaging	Het
Acsl1	A	G	8: 46,513,569		probably benign	Het
Adad1	T	A	3: 37,084,948	I389N	possibly damaging	Het
Ankrd27	T	C	7: 35,601,560	L95P	probably damaging	Het
Ano5	T	C	7: 51,535,470	F46S	possibly damaging	Het
Ap2a1	T	C	7: 44,915,973	N114S	probably damaging	Het
Arap1	C	T	7: 101,400,241	S970L	possibly damaging	Het
Atad3a	A	T	4: 155,746,067	S525T	probably damaging	Het
B4galnt1	T	C	10: 127,170,911		probably benign	Het
Cacna2d2	A	T	9: 107,514,670	I463F	probably damaging	Het
Casp6	T	A	3: 129,905,975	N34K	probably damaging	Het
Ccdc175	A	T	12: 72,105,876	F752I	probably benign	Het
Cdhr4	A	G	9: 107,996,934	I76V	probably benign	Het
Copa	T	C	1: 172,087,667		probably null	Het
Cox11	C	T	11: 90,644,500	T259I	probably damaging	Het
Cuzd1	C	A	7: 131,311,816	K357N	possibly damaging	Het
Dnah5	T	A	15: 28,333,070	F2206I	probably damaging	Het
Dnase2b	T	A	3: 146,582,550	K263N	probably benign	Het
Dync1h1	T	A	12: 110,640,980	D2668E	probably benign	Het
Eno1b	T	C	18: 48,047,739	I328T	probably benign	Het
Fam124b	T	C	1: 80,212,986	S227G	probably damaging	Het
Fgf21	T	A	7: 45,615,297	M4L	probably benign	Het
Flg2	T	A	3: 93,201,797	C377*	probably null	Het
Foxp2	T	C	6: 15,409,753	S451P	probably damaging	Het
Gli2	A	T	1: 118,835,925	S1499T	probably damaging	Het
Gm13078	A	T	4: 143,726,063	E21D	possibly damaging	Het
Gm8909	A	G	17: 36,167,469	Y224H	probably benign	Het
Gm9920	A	T	15: 55,112,461		probably benign	Het
Gpx5	T	A	13: 21,287,403	D210V	probably damaging	Het
Hoxb5	T	A	11: 96,305,027	S234T	probably benign	Het
Irf9	C	A	14: 55,606,094	N140K	probably benign	Het
Isg20	C	T	7: 78,914,495	T50M	probably damaging	Het
Isg20	C	A	7: 78,916,586	D94E	probably damaging	Het
Izumo1	T	C	7: 45,624,168	L115P	probably damaging	Het
Kdm3b	G	A	18: 34,809,420	E655K	probably damaging	Het
Kdm5b	T	G	1: 134,604,634		probably benign	Het
Kifc3	A	G	8: 95,101,472		probably null	Het
Kpna2	T	C	11: 106,992,631	S111G	probably benign	Het
Krt73	A	T	15: 101,802,016	N94K	probably benign	Het
Lgmn	G	T	12: 102,399,989	D247E	probably damaging	Het
Lilra6	C	T	7: 3,914,936	V70I	possibly damaging	Het
Lrig3	G	A	10: 126,013,526		probably null	Het
Lrrc4	T	C	6: 28,829,735	H627R	probably benign	Het
Macf1	G	A	4: 123,450,127		probably benign	Het
Nat9	C	A	11: 115,183,408		probably null	Het
Nutm2	A	G	13: 50,467,405	D2G	probably benign	Het
Olfr1151	A	G	2: 87,857,752	I192M	probably benign	Het
Olfr1404	A	T	1: 173,216,301	I217F	probably benign	Het
Olfr191	A	T	16: 59,085,675	D269E	probably benign	Het
Parl	G	A	16: 20,287,907	P184L	probably damaging	Het
Pdzd8	A	T	19: 59,300,379	M863K	probably damaging	Het
Phlda3	T	C	1: 135,766,821	S125P	probably damaging	Het
Pkd1l3	A	T	8: 109,650,780	R217*	probably null	Het
Plekhg5	T	C	4: 152,112,219	C695R	probably damaging	Het
Prg4	T	C	1: 150,453,547		probably benign	Het
Prkab1	A	G	5: 116,021,652		probably benign	Het
Pyroxd1	A	G	6: 142,354,630	E162G	possibly damaging	Het
R3hcc1l	G	A	19: 42,582,921		probably null	Het
Rgs12	T	A	5: 35,030,498	S500T	probably damaging	Het
Ripor3	T	C	2: 167,992,598	D299G	probably damaging	Het
Robo4	T	C	9: 37,402,681	L76P	probably damaging	Het
Sbno1	T	C	5: 124,376,226	Y1302C	probably damaging	Het
Sec63	A	G	10: 42,823,908	I655V	possibly damaging	Het
Serpina11	T	A	12: 103,980,470	M389L	probably benign	Het
Sfswap	C	A	5: 129,554,543	P745Q	possibly damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slitrk3	C	T	3: 73,048,577	S954N	probably benign	Het
Sorbs2	A	G	8: 45,769,829	T190A	probably damaging	Het
Sos2	A	T	12: 69,617,330	I460N	probably benign	Het
Spink7	T	A	18: 62,594,352	I34L	probably benign	Het
Srbd1	A	G	17: 86,057,745	S628P	probably damaging	Het
Srm	G	A	4: 148,593,372	G156S	probably damaging	Het
Sulf2	T	C	2: 166,085,669		probably benign	Het
Tmc4	T	A	7: 3,666,867	Y6F	probably benign	Het
Tmcc2	A	G	1: 132,360,651	F433L	probably damaging	Het
Tmprss13	T	G	9: 45,337,100		probably benign	Het
Tnxb	T	C	17: 34,699,033	F2307L	probably benign	Het
Tsr3	A	G	17: 25,242,510	E274G	probably benign	Het
Ttn	T	C	2: 76,895,144		probably benign	Het
Tub	T	C	7: 109,029,341	V352A	possibly damaging	Het
Tubb2a	A	G	13: 34,075,342	I155T	possibly damaging	Het
Ugt2a2	T	C	5: 87,475,001	N36S	probably damaging	Het
Usp13	T	A	3: 32,915,664		probably null	Het
Vmn1r52	T	G	6: 90,179,611	L120R	possibly damaging	Het
Vmn2r11	A	T	5: 109,054,102	S179T	probably benign	Het
Vwf	A	T	6: 125,686,510	R2805W	possibly damaging	Het
Wdr7	A	G	18: 63,904,101	T1199A	probably benign	Het
Zfp286	T	C	11: 62,780,393	T285A	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
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
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'- ACTGCCTAGATCTCAGCATCAGTCC -3'
(R):5'- GTGAGGGAGTCACACTGCTTATGTC -3'

Sequencing Primer
(F):5'- tgcatccctataactacagaacg -3'
(R):5'- GCTTATGTCTCTGATAACTAGATTCC -3'

Posted On

2013-07-11