Mutagenetix > Incidental Mutation

Incidental Mutation 'R2281:Fam43b'

243109

Institutional Source

Beutler Lab

Gene Symbol

Fam43b

Ensembl Gene

ENSMUSG00000078235

Gene Name

family with sequence similarity 43, member B

Synonyms

OTTMUSG00000009974

MMRRC Submission

040280-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.544) question?

Stock #

R2281 (G1)

Quality Score

165

Status

Not validated

Chromosome

Chromosomal Location

138121403-138123769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 138122409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 304 (R304G)

Ref Sequence

ENSEMBL: ENSMUSP00000100649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105032]

AlphaFold

A2AM80

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000062902

Predicted Effect

probably benign
Transcript: ENSMUST00000105032
AA Change: R304G

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100649
Gene: ENSMUSG00000078235
AA Change: R304G

Domain	Start	End	E-Value	Type
Pfam:PID_2	71	265	3.4e-75	PFAM
low complexity region	306	315	N/A	INTRINSIC

Meta Mutation Damage Score

0.0639

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,352,179 (GRCm39)	L228S	probably damaging	Het
Abca13	A	T	11: 9,278,136 (GRCm39)	K3105N	probably damaging	Het
Abca3	T	A	17: 24,595,700 (GRCm39)	L351Q	possibly damaging	Het
Acadm	A	G	3: 153,638,680 (GRCm39)	I231T	possibly damaging	Het
Adamts4	A	T	1: 171,083,798 (GRCm39)	Q456L	probably damaging	Het
Adgra3	C	T	5: 50,159,222 (GRCm39)	V343I	probably benign	Het
Ajuba	C	A	14: 54,814,645 (GRCm39)	G26V	probably damaging	Het
Aldh1a1	A	G	19: 20,597,455 (GRCm39)	I145M	possibly damaging	Het
Ankrd42	G	A	7: 92,274,981 (GRCm39)	Q110*	probably null	Het
Ano3	T	A	2: 110,513,104 (GRCm39)	E630D	probably benign	Het
Ap3d1	T	C	10: 80,549,832 (GRCm39)	D771G	probably damaging	Het
Arhgap30	A	G	1: 171,216,896 (GRCm39)	D21G	probably damaging	Het
Atg13	T	C	2: 91,509,770 (GRCm39)	N374S	probably benign	Het
Ccdc168	T	A	1: 44,095,620 (GRCm39)	H1826L	possibly damaging	Het
Ccser1	A	T	6: 61,547,799 (GRCm39)	M49L	probably damaging	Het
Cdh5	A	G	8: 104,852,365 (GRCm39)	E160G	probably damaging	Het
Cpd	T	C	11: 76,688,627 (GRCm39)	K882E	probably benign	Het
Crtac1	G	A	19: 42,272,006 (GRCm39)	L646F	unknown	Het
Cyp27b1	T	G	10: 126,884,163 (GRCm39)	V5G	probably damaging	Het
Dcaf11	G	T	14: 55,806,828 (GRCm39)	*550Y	probably null	Het
Dhx58	A	G	11: 100,588,980 (GRCm39)		probably null	Het
Dlg2	T	A	7: 92,087,249 (GRCm39)	I881N	probably damaging	Het
Ece1	C	T	4: 137,673,673 (GRCm39)	T407M	possibly damaging	Het
Ecsit	C	T	9: 21,987,836 (GRCm39)	V68I	possibly damaging	Het
Egln1	T	C	8: 125,675,153 (GRCm39)	D214G	probably benign	Het
Espn	T	C	4: 152,220,002 (GRCm39)	T47A	possibly damaging	Het
F5	A	G	1: 164,023,289 (GRCm39)	I1616V	possibly damaging	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fryl	T	C	5: 73,198,707 (GRCm39)	D2640G	possibly damaging	Het
Gabrg2	T	C	11: 41,867,463 (GRCm39)	K52R	possibly damaging	Het
Ganab	T	C	19: 8,886,832 (GRCm39)	V306A	probably damaging	Het
Glod4	A	T	11: 76,128,635 (GRCm39)	I70N	possibly damaging	Het
Gsn	T	A	2: 35,173,930 (GRCm39)	V2E	probably benign	Het
H1f2	A	G	13: 23,922,907 (GRCm39)	K26E	probably benign	Het
Hrg	C	T	16: 22,780,059 (GRCm39)		probably benign	Het
Kctd19	T	C	8: 106,113,898 (GRCm39)	T592A	probably benign	Het
Kdm3b	A	G	18: 34,941,472 (GRCm39)	D521G	probably damaging	Het
Lrba	A	G	3: 86,683,410 (GRCm39)	H2744R	possibly damaging	Het
Lsr	C	T	7: 30,657,770 (GRCm39)	A397T	probably damaging	Het
Methig1	A	T	15: 100,251,241 (GRCm39)	M51L	possibly damaging	Het
Mga	A	G	2: 119,734,204 (GRCm39)	I351V	probably benign	Het
Mlf1	G	A	3: 67,307,084 (GRCm39)	V250I	possibly damaging	Het
Mreg	A	T	1: 72,231,223 (GRCm39)	N78K	probably damaging	Het
Mtor	A	G	4: 148,574,012 (GRCm39)	D1294G	probably benign	Het
Nfkb1	T	C	3: 135,307,282 (GRCm39)	I548V	probably damaging	Het
Nlrp3	T	C	11: 59,439,962 (GRCm39)	F513S	possibly damaging	Het
Nphp4	A	G	4: 152,641,500 (GRCm39)	K1094E	possibly damaging	Het
Nr3c2	C	A	8: 77,636,536 (GRCm39)	H546N	probably damaging	Het
Nr4a2	T	A	2: 57,002,211 (GRCm39)	M18L	probably benign	Het
Or2y1f	A	C	11: 49,184,459 (GRCm39)	T104P	probably benign	Het
Or4c109	G	A	2: 88,817,814 (GRCm39)	T244I	probably benign	Het
Pclo	A	G	5: 14,590,346 (GRCm39)	N882S	unknown	Het
Pde6a	T	C	18: 61,395,505 (GRCm39)	Y583H	probably damaging	Het
Pip5k1b	T	A	19: 24,356,311 (GRCm39)	Y209F	probably damaging	Het
Plch2	A	T	4: 155,068,766 (GRCm39)	S1182T	probably damaging	Het
Ptger2	G	T	14: 45,227,107 (GRCm39)	R229L	probably damaging	Het
Ptpru	C	A	4: 131,535,810 (GRCm39)	G389V	probably damaging	Het
Ric8a	A	G	7: 140,441,851 (GRCm39)	N249S	probably benign	Het
Slc26a5	A	G	5: 22,036,508 (GRCm39)	I266T	possibly damaging	Het
Smyd1	T	C	6: 71,215,660 (GRCm39)	N100D	probably damaging	Het
Spmap2l	T	C	5: 77,207,214 (GRCm39)	I324T	probably damaging	Het
Stag3	T	C	5: 138,296,546 (GRCm39)	F468S	probably damaging	Het
Stk31	C	T	6: 49,394,184 (GRCm39)	T182I	probably damaging	Het
Svep1	G	T	4: 58,082,677 (GRCm39)	N1982K	possibly damaging	Het
Tinagl1	A	G	4: 130,060,786 (GRCm39)	Y344H	probably damaging	Het
Tmem216	T	A	19: 10,529,237 (GRCm39)	T104S	probably damaging	Het
Tmem231	T	C	8: 112,645,563 (GRCm39)	D112G	probably damaging	Het
Ube4b	A	G	4: 149,429,029 (GRCm39)	I870T	probably damaging	Het
Vwa8	T	A	14: 79,302,436 (GRCm39)	L1035Q	possibly damaging	Het
Wdr35	A	G	12: 9,028,628 (GRCm39)	Q82R	probably benign	Het
Wnk1	A	T	6: 119,940,601 (GRCm39)		probably null	Het
Zc3h7a	T	C	16: 10,976,458 (GRCm39)		probably benign	Het
Zfp532	T	C	18: 65,757,783 (GRCm39)	V572A	probably damaging	Het

Other mutations in Fam43b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2128:Fam43b	UTSW	4	138,123,299 (GRCm39)	missense	possibly damaging	0.87
R2258:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R2413:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R2416:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R2417:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3705:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3715:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3797:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3798:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3854:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3856:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R4639:Fam43b	UTSW	4	138,123,278 (GRCm39)	missense	possibly damaging	0.66
R4868:Fam43b	UTSW	4	138,123,108 (GRCm39)	missense	probably benign	0.32
R5129:Fam43b	UTSW	4	138,122,783 (GRCm39)	nonsense	probably null
R6176:Fam43b	UTSW	4	138,122,522 (GRCm39)	missense	probably damaging	0.99
R7296:Fam43b	UTSW	4	138,123,152 (GRCm39)	missense	probably damaging	1.00
R8280:Fam43b	UTSW	4	138,123,281 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGCGACCATTACAGTGACC -3'
(R):5'- AGTCTTCACCTGGGTCTACC -3'

Sequencing Primer
(F):5'- GACCATTACAGTGACCGCGAG -3'
(R):5'- TTCAGCGACTTCAAGCGG -3'

Posted On

2014-10-16