Mutagenetix > Incidental Mutation

Incidental Mutation 'R0127:Fam234b'

21447

Institutional Source

Beutler Lab

Gene Symbol

Fam234b

Ensembl Gene

ENSMUSG00000030207

Gene Name

family with sequence similarity 234, member B

Synonyms

8430419L09Rik

MMRRC Submission

038412-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0127 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

135197977-135244955 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 135218823 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107547 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111915] [ENSMUST00000111916]

AlphaFold

Q8BYI8

Predicted Effect

probably benign
Transcript: ENSMUST00000111915

SMART Domains

Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207

Domain	Start	End	E-Value	Type
transmembrane domain	105	127	N/A	INTRINSIC
low complexity region	500	517	N/A	INTRINSIC
low complexity region	521	528	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111916

SMART Domains

Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207

Domain	Start	End	E-Value	Type
transmembrane domain	105	127	N/A	INTRINSIC
low complexity region	500	517	N/A	INTRINSIC
low complexity region	521	528	N/A	INTRINSIC

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.9%

Validation Efficiency

99% (85/86)

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,707,454 (GRCm38)	T152A	probably benign	Het
Abca1	T	C	4: 53,067,155 (GRCm38)	I1351V	probably benign	Het
Acap1	A	T	11: 69,887,217 (GRCm38)		probably benign	Het
Als2cl	T	C	9: 110,891,867 (GRCm38)	L521P	probably damaging	Het
Ankrd50	T	C	3: 38,456,235 (GRCm38)	D661G	probably benign	Het
Atp6v1b2	T	A	8: 69,103,460 (GRCm38)	N262K	probably damaging	Het
Baz1a	T	A	12: 54,898,706 (GRCm38)	D1288V	possibly damaging	Het
Bbs1	A	T	19: 4,895,029 (GRCm38)	D371E	probably benign	Het
Bphl	A	G	13: 34,064,046 (GRCm38)		probably benign	Het
Caskin2	C	A	11: 115,800,994 (GRCm38)	R988S	probably damaging	Het
Cbr1	C	A	16: 93,609,987 (GRCm38)	T197N	probably damaging	Het
Ccdc88c	T	C	12: 100,935,740 (GRCm38)	E1213G	possibly damaging	Het
Ccna1	A	G	3: 55,049,748 (GRCm38)	F83L	probably damaging	Het
Cep290	T	A	10: 100,536,925 (GRCm38)		probably benign	Het
Cep89	C	A	7: 35,428,262 (GRCm38)	T543K	possibly damaging	Het
Cmtm7	T	C	9: 114,781,670 (GRCm38)	M45V	probably benign	Het
Col16a1	T	A	4: 130,052,857 (GRCm38)	V91E	probably damaging	Het
Csmd3	T	C	15: 47,981,930 (GRCm38)	N920S	probably benign	Het
Cyp26b1	A	G	6: 84,577,208 (GRCm38)		probably benign	Het
Dao	T	A	5: 114,019,963 (GRCm38)	H215Q	probably damaging	Het
Dido1	T	C	2: 180,671,824 (GRCm38)	D885G	probably benign	Het
Dlx4	T	G	11: 95,141,229 (GRCm38)	M240L	probably benign	Het
Dnah5	C	T	15: 28,294,925 (GRCm38)	P1351L	probably damaging	Het
Dnah6	T	A	6: 73,038,734 (GRCm38)		probably benign	Het
Dock5	A	T	14: 67,846,042 (GRCm38)	D139E	probably benign	Het
Fat2	T	C	11: 55,289,286 (GRCm38)	T1410A	probably benign	Het
Fsip2	T	A	2: 82,984,925 (GRCm38)	N3667K	probably benign	Het
Gm14085	T	A	2: 122,517,069 (GRCm38)		probably null	Het
Gm5114	T	C	7: 39,408,456 (GRCm38)	I580V	probably benign	Het
Hapln1	A	T	13: 89,607,869 (GRCm38)	Y264F	probably benign	Het
Heatr5a	A	G	12: 51,925,405 (GRCm38)	V694A	probably benign	Het
Hps1	A	G	19: 42,771,111 (GRCm38)		probably benign	Het
Igsf9b	G	T	9: 27,334,385 (GRCm38)	R1216L	possibly damaging	Het
Il4ra	G	T	7: 125,569,070 (GRCm38)	C87F	probably damaging	Het
Kmt5b	A	G	19: 3,786,465 (GRCm38)	M1V	probably null	Het
Krit1	A	G	5: 3,822,178 (GRCm38)	E401G	probably damaging	Het
Lamp1	T	C	8: 13,174,491 (GRCm38)	V385A	probably damaging	Het
Ly6g5b	A	G	17: 35,114,591 (GRCm38)	Y82H	probably damaging	Het
Mapre2	A	G	18: 23,804,175 (GRCm38)	I25V	probably benign	Het
Mep1a	A	G	17: 43,497,886 (GRCm38)		probably benign	Het
Mgea5	A	T	19: 45,771,888 (GRCm38)	I277N	probably damaging	Het
Mkrn1	A	G	6: 39,399,275 (GRCm38)	W466R	probably benign	Het
Muc2	C	A	7: 141,748,954 (GRCm38)	F11L	probably benign	Het
Nebl	T	A	2: 17,392,983 (GRCm38)	M501L	probably benign	Het
Olfr1151	A	G	2: 87,857,483 (GRCm38)	I103V	probably benign	Het
Olfr1179	A	G	2: 88,402,355 (GRCm38)	V193A	probably benign	Het
Olfr744	A	G	14: 50,618,332 (GRCm38)	I37V	probably benign	Het
Olfr951	A	G	9: 39,393,942 (GRCm38)	I50M	probably benign	Het
Pkd1l2	A	G	8: 117,050,048 (GRCm38)		probably benign	Het
Pkhd1l1	A	G	15: 44,554,605 (GRCm38)	M2886V	probably damaging	Het
Pop5	T	A	5: 115,240,171 (GRCm38)	L58H	probably damaging	Het
Prkch	C	A	12: 73,721,787 (GRCm38)	H444N	possibly damaging	Het
Reln	T	C	5: 22,004,136 (GRCm38)	D1148G	probably damaging	Het
Rffl	G	A	11: 82,812,632 (GRCm38)	T120M	probably damaging	Het
Rmdn2	A	T	17: 79,670,569 (GRCm38)	S320C	probably damaging	Het
Rrbp1	C	T	2: 143,989,944 (GRCm38)	R101H	probably benign	Het
Rtf1	G	A	2: 119,726,743 (GRCm38)	R443H	probably damaging	Het
Serac1	G	T	17: 6,048,840 (GRCm38)	L559I	probably damaging	Het
Slc12a1	A	G	2: 125,219,762 (GRCm38)	R958G	probably damaging	Het
Slc15a3	T	A	19: 10,855,986 (GRCm38)	W456R	probably damaging	Het
Slc35f5	C	T	1: 125,576,205 (GRCm38)	P290L	probably damaging	Het
Slc35g2	C	T	9: 100,553,117 (GRCm38)	R167Q	probably benign	Het
Spag4	T	C	2: 156,068,042 (GRCm38)	V302A	probably damaging	Het
Spire2	A	C	8: 123,358,097 (GRCm38)		probably benign	Het
Sptbn2	G	T	19: 4,724,744 (GRCm38)	V142L	probably damaging	Het
Syt17	T	A	7: 118,409,941 (GRCm38)	D352V	probably damaging	Het
Tarsl2	A	T	7: 65,664,969 (GRCm38)	D425V	probably benign	Het
Tctex1d1	T	C	4: 103,002,452 (GRCm38)		probably benign	Het
Thsd7a	A	G	6: 12,554,908 (GRCm38)	S326P	probably benign	Het
Tnpo2	T	C	8: 85,040,628 (GRCm38)	S64P	probably damaging	Het
Tonsl	G	T	15: 76,633,485 (GRCm38)	A678D	probably benign	Het
Trim12c	A	G	7: 104,340,906 (GRCm38)		probably null	Het
Tsc22d1	A	G	14: 76,418,981 (GRCm38)	T885A	possibly damaging	Het
Ttn	T	A	2: 76,877,011 (GRCm38)		probably benign	Het
Ttn	T	C	2: 76,742,198 (GRCm38)	D26117G	probably damaging	Het
Ugt3a1	T	C	15: 9,306,256 (GRCm38)	F164L	probably benign	Het
Vmn2r89	A	G	14: 51,455,703 (GRCm38)	N170S	probably damaging	Het
Vrk2	G	T	11: 26,534,313 (GRCm38)		probably benign	Het
Wt1	C	A	2: 105,133,457 (GRCm38)	D207E	probably damaging	Het
Zbtb46	G	A	2: 181,411,815 (GRCm38)	A368V	probably benign	Het
Zc3h13	A	T	14: 75,323,254 (GRCm38)	D428V	unknown	Het
Zcchc8	C	G	5: 123,707,337 (GRCm38)	G320A	probably damaging	Het
Znfx1	T	C	2: 167,044,210 (GRCm38)	E810G	possibly damaging	Het

Other mutations in Fam234b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Fam234b	APN	6	135,225,204 (GRCm38)	missense	probably damaging	1.00
IGL01020:Fam234b	APN	6	135,211,906 (GRCm38)	missense	probably benign	0.13
IGL01731:Fam234b	APN	6	135,211,905 (GRCm38)	missense	possibly damaging	0.90
IGL01994:Fam234b	APN	6	135,225,205 (GRCm38)	nonsense	probably null
IGL02010:Fam234b	APN	6	135,209,407 (GRCm38)	missense	probably benign	0.17
IGL02071:Fam234b	APN	6	135,227,151 (GRCm38)	critical splice acceptor site	probably null
IGL02340:Fam234b	APN	6	135,231,661 (GRCm38)	missense	probably damaging	1.00
IGL02869:Fam234b	APN	6	135,225,203 (GRCm38)	missense	probably damaging	1.00
R0076:Fam234b	UTSW	6	135,227,226 (GRCm38)	missense	probably benign	0.00
R0076:Fam234b	UTSW	6	135,227,226 (GRCm38)	missense	probably benign	0.00
R0123:Fam234b	UTSW	6	135,217,074 (GRCm38)	missense	possibly damaging	0.46
R0225:Fam234b	UTSW	6	135,217,074 (GRCm38)	missense	possibly damaging	0.46
R0570:Fam234b	UTSW	6	135,209,249 (GRCm38)	missense	probably benign	0.00
R0705:Fam234b	UTSW	6	135,227,215 (GRCm38)	missense	probably benign	0.11
R1140:Fam234b	UTSW	6	135,225,758 (GRCm38)	missense	probably benign	0.00
R1446:Fam234b	UTSW	6	135,209,330 (GRCm38)	splice site	probably null
R1464:Fam234b	UTSW	6	135,228,492 (GRCm38)	missense	probably benign	0.00
R1464:Fam234b	UTSW	6	135,228,492 (GRCm38)	missense	probably benign	0.00
R2044:Fam234b	UTSW	6	135,226,914 (GRCm38)	missense	probably benign	0.04
R2350:Fam234b	UTSW	6	135,231,724 (GRCm38)	missense	probably damaging	1.00
R3914:Fam234b	UTSW	6	135,225,683 (GRCm38)	missense	probably damaging	1.00
R4261:Fam234b	UTSW	6	135,209,136 (GRCm38)	missense	unknown
R5102:Fam234b	UTSW	6	135,209,284 (GRCm38)	missense	probably benign	0.03
R5133:Fam234b	UTSW	6	135,209,195 (GRCm38)	missense	probably benign	0.01
R5313:Fam234b	UTSW	6	135,209,187 (GRCm38)	missense	possibly damaging	0.56
R5375:Fam234b	UTSW	6	135,233,357 (GRCm38)	missense	probably damaging	1.00
R5418:Fam234b	UTSW	6	135,226,968 (GRCm38)	missense	probably benign	0.00
R5838:Fam234b	UTSW	6	135,225,267 (GRCm38)	missense	probably benign	0.00
R5953:Fam234b	UTSW	6	135,225,707 (GRCm38)	missense	possibly damaging	0.95
R6737:Fam234b	UTSW	6	135,228,515 (GRCm38)	missense	probably damaging	0.99
R7056:Fam234b	UTSW	6	135,228,452 (GRCm38)	missense	probably benign	0.32
R7221:Fam234b	UTSW	6	135,228,531 (GRCm38)	missense	probably damaging	1.00
R7418:Fam234b	UTSW	6	135,217,011 (GRCm38)	missense	probably benign	0.04
R7459:Fam234b	UTSW	6	135,211,901 (GRCm38)	missense	probably benign	0.04
R7599:Fam234b	UTSW	6	135,226,876 (GRCm38)	missense	probably damaging	1.00
R7602:Fam234b	UTSW	6	135,225,243 (GRCm38)	missense	possibly damaging	0.79
R7639:Fam234b	UTSW	6	135,225,800 (GRCm38)	splice site	probably null
R7748:Fam234b	UTSW	6	135,209,351 (GRCm38)	missense	probably damaging	1.00
R7773:Fam234b	UTSW	6	135,243,914 (GRCm38)	missense	probably benign	0.01
R8544:Fam234b	UTSW	6	135,233,289 (GRCm38)	missense	probably damaging	1.00
R9324:Fam234b	UTSW	6	135,225,795 (GRCm38)	nonsense	probably null
R9733:Fam234b	UTSW	6	135,217,010 (GRCm38)	missense	possibly damaging	0.50
Z1177:Fam234b	UTSW	6	135,198,008 (GRCm38)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CTGGCTCAGGAATGCTGCATCTAC -3'
(R):5'- TTTCATAAGCGGCCTACAGGGAAAG -3'

Sequencing Primer
(F):5'- CCTTTTGCTGAGACAGAAAGC -3'
(R):5'- tgaagagatcagagcatggatag -3'

Posted On

2013-04-11