Mutagenetix > Incidental Mutation

Incidental Mutation 'R5953:Fam234b'

471002

Institutional Source

Beutler Lab

Gene Symbol

Fam234b

Ensembl Gene

ENSMUSG00000030207

Gene Name

family with sequence similarity 234, member B

Synonyms

8430419L09Rik

MMRRC Submission

043245-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.132) question?

Stock #

R5953 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135197977-135244955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 135225707 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 353 (R353L)

Ref Sequence

ENSEMBL: ENSMUSP00000107547 (fasta)

Gene Model

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

AlphaFold

Q8BYI8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111915
AA Change: R353L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: R353L

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

possibly damaging
Transcript: ENSMUST00000111916
AA Change: R353L

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: R353L

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: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	A	7: 120,361,018	S675T	probably damaging	Het
Acvr2a	T	C	2: 48,890,404	L212P	probably damaging	Het
Adamts14	T	C	10: 61,207,446	T751A	probably damaging	Het
Adgrf2	T	C	17: 42,710,338	N532D	probably damaging	Het
Asns	T	C	6: 7,682,285	E220G	probably benign	Het
Cd209d	A	T	8: 3,877,979		probably null	Het
Cenpp	T	C	13: 49,652,685	D2G	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Clec4a3	G	T	6: 122,969,492	V232L	probably benign	Het
Cntln	C	T	4: 85,049,919	H792Y	possibly damaging	Het
Cobl	T	A	11: 12,256,220	T470S	probably benign	Het
Cym	T	A	3: 107,213,467	D274V	probably damaging	Het
Elac2	G	A	11: 64,999,223	C627Y	probably benign	Het
Emc7	T	A	2: 112,459,558	I111N	probably damaging	Het
Eya4	T	A	10: 23,151,973	Y310F	probably damaging	Het
Fam217b	C	T	2: 178,420,360	S39F	probably damaging	Het
Focad	A	G	4: 88,229,335	I404V	probably benign	Het
Il1rl1	T	A	1: 40,442,673	D180E	probably benign	Het
Il2rb	A	T	15: 78,484,982	C256*	probably null	Het
Intu	A	C	3: 40,679,550	L404F	probably damaging	Het
Jmy	G	A	13: 93,499,116	T64M	possibly damaging	Het
Mpl	C	A	4: 118,454,510	S302I	possibly damaging	Het
Mpl	T	A	4: 118,454,511	S302C	probably damaging	Het
Muc2	G	T	7: 141,701,382	D241Y	probably damaging	Het
Nlrp3	C	T	11: 59,546,791	H99Y	probably benign	Het
Olfr1474	A	T	19: 13,471,368	I133F	possibly damaging	Het
Olfr812	C	G	10: 129,842,614	V143L	probably benign	Het
Pglyrp1	A	T	7: 18,890,313	I174F	probably damaging	Het
Pi4ka	A	T	16: 17,281,951	I1936N		Het
Plekhm3	C	T	1: 64,937,895	E139K	probably damaging	Het
Pomk	C	A	8: 25,983,048	L292F	probably damaging	Het
Ptpru	A	G	4: 131,776,837	I1103T	probably damaging	Het
Pygl	T	C	12: 70,219,627	D38G	probably damaging	Het
Rapsn	T	C	2: 91,041,963	V214A	probably benign	Het
S100a9	T	A	3: 90,692,927	K54M	probably damaging	Het
Sdk2	A	G	11: 113,793,744	Y1964H	probably damaging	Het
Slc17a5	T	C	9: 78,557,498	N331S	probably damaging	Het
Snx9	T	A	17: 5,908,402	C252S	probably damaging	Het
Snx9	G	T	17: 5,908,403	C252F	probably damaging	Het
Trem1	A	T	17: 48,237,192	M82L	probably benign	Het

Other mutations in Fam234b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00536:Fam234b	APN	6	135225204	missense	probably damaging	1.00
IGL01020:Fam234b	APN	6	135211906	missense	probably benign	0.13
IGL01731:Fam234b	APN	6	135211905	missense	possibly damaging	0.90
IGL01994:Fam234b	APN	6	135225205	nonsense	probably null
IGL02010:Fam234b	APN	6	135209407	missense	probably benign	0.17
IGL02071:Fam234b	APN	6	135227151	critical splice acceptor site	probably null
IGL02340:Fam234b	APN	6	135231661	missense	probably damaging	1.00
IGL02869:Fam234b	APN	6	135225203	missense	probably damaging	1.00
R0076:Fam234b	UTSW	6	135227226	missense	probably benign	0.00
R0076:Fam234b	UTSW	6	135227226	missense	probably benign	0.00
R0123:Fam234b	UTSW	6	135217074	missense	possibly damaging	0.46
R0127:Fam234b	UTSW	6	135218823	splice site	probably benign
R0225:Fam234b	UTSW	6	135217074	missense	possibly damaging	0.46
R0570:Fam234b	UTSW	6	135209249	missense	probably benign	0.00
R0705:Fam234b	UTSW	6	135227215	missense	probably benign	0.11
R1140:Fam234b	UTSW	6	135225758	missense	probably benign	0.00
R1446:Fam234b	UTSW	6	135209330	splice site	probably null
R1464:Fam234b	UTSW	6	135228492	missense	probably benign	0.00
R1464:Fam234b	UTSW	6	135228492	missense	probably benign	0.00
R2044:Fam234b	UTSW	6	135226914	missense	probably benign	0.04
R2350:Fam234b	UTSW	6	135231724	missense	probably damaging	1.00
R3914:Fam234b	UTSW	6	135225683	missense	probably damaging	1.00
R4261:Fam234b	UTSW	6	135209136	missense	unknown
R5102:Fam234b	UTSW	6	135209284	missense	probably benign	0.03
R5133:Fam234b	UTSW	6	135209195	missense	probably benign	0.01
R5313:Fam234b	UTSW	6	135209187	missense	possibly damaging	0.56
R5375:Fam234b	UTSW	6	135233357	missense	probably damaging	1.00
R5418:Fam234b	UTSW	6	135226968	missense	probably benign	0.00
R5838:Fam234b	UTSW	6	135225267	missense	probably benign	0.00
R6737:Fam234b	UTSW	6	135228515	missense	probably damaging	0.99
R7056:Fam234b	UTSW	6	135228452	missense	probably benign	0.32
R7221:Fam234b	UTSW	6	135228531	missense	probably damaging	1.00
R7418:Fam234b	UTSW	6	135217011	missense	probably benign	0.04
R7459:Fam234b	UTSW	6	135211901	missense	probably benign	0.04
R7599:Fam234b	UTSW	6	135226876	missense	probably damaging	1.00
R7602:Fam234b	UTSW	6	135225243	missense	possibly damaging	0.79
R7639:Fam234b	UTSW	6	135225800	splice site	probably null
R7748:Fam234b	UTSW	6	135209351	missense	probably damaging	1.00
R7773:Fam234b	UTSW	6	135243914	missense	probably benign	0.01
R8544:Fam234b	UTSW	6	135233289	missense	probably damaging	1.00
R9324:Fam234b	UTSW	6	135225795	nonsense	probably null
R9733:Fam234b	UTSW	6	135217010	missense	possibly damaging	0.50
Z1177:Fam234b	UTSW	6	135198008	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TTTCCCATCACTCCAAGCGG -3'
(R):5'- AAGGTTAGCTCCACTTTCCC -3'

Sequencing Primer
(F):5'- TCACTCCAAGCGGGACCAG -3'
(R):5'- GCCCTTACTCACTAGTCAACC -3'

Posted On

2017-03-31