Mutagenetix > Incidental Mutations

Incidental Mutation 'R1446:Fam234b'

158872

Institutional Source

Beutler Lab

Gene Symbol

Fam234b

Ensembl Gene

ENSMUSG00000030207

Gene Name

family with sequence similarity 234, member B

Synonyms

8430419L09Rik

MMRRC Submission

039501-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R1446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135197977-135244955 bp(+) (GRCm38)

Type of Mutation

splice site (21 bp from exon)

DNA Base Change (assembly)

T to A at 135209330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125359 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111915] [ENSMUST00000111916] [ENSMUST00000130612] [ENSMUST00000151071]

AlphaFold

Q8BYI8

Predicted Effect

probably damaging
Transcript: ENSMUST00000111915
AA Change: L112Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: L112Q

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 damaging
Transcript: ENSMUST00000111916
AA Change: L112Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: L112Q

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 null
Transcript: ENSMUST00000130612

Predicted Effect

probably null
Transcript: ENSMUST00000151071

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 76,886,289	A472T	probably benign	Het
Adcy4	A	T	14: 55,770,023		probably null	Het
Ahcyl2	T	C	6: 29,891,240	S448P	probably damaging	Het
Anks1b	A	G	10: 90,511,073	Y745C	probably benign	Het
Anxa1	A	T	19: 20,373,739	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,242,293	D64G	probably benign	Het
Arpc1a	A	G	5: 145,101,086		probably null	Het
Bank1	C	T	3: 136,064,143	G727R	probably damaging	Het
Best2	T	C	8: 85,007,964	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,706,177	M501L	probably benign	Het
Col27a1	T	A	4: 63,224,803	Y243N	probably damaging	Het
Cyp11a1	A	T	9: 58,015,277	Q80L	possibly damaging	Het
Dnah10	T	A	5: 124,789,796	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,057,979	H139R	probably benign	Het
Dppa5a	T	A	9: 78,367,789	N77I	probably benign	Het
Edc4	T	C	8: 105,888,132	S125P	probably damaging	Het
Eid2	T	C	7: 28,268,589	I212T	possibly damaging	Het
Frem2	T	C	3: 53,654,596	E830G	probably benign	Het
Fyb	A	T	15: 6,652,466	I765L	probably benign	Het
Fyn	T	G	10: 39,522,779	S124A	probably benign	Het
Gal3st3	T	A	19: 5,306,911	F105I	probably damaging	Het
Gm13762	A	G	2: 88,973,765	I42T	probably benign	Het
Gpr146	A	G	5: 139,393,422	I326M	probably benign	Het
Grk2	G	A	19: 4,287,409	R617C	possibly damaging	Het
Gsn	A	G	2: 35,306,586	K669R	probably benign	Het
H2-T10	A	T	17: 36,119,374	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,309,143	H106R	probably benign	Het
Kat14	A	G	2: 144,373,718	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,311,724	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,914,699	T244I	probably damaging	Het
Klb	A	T	5: 65,348,995	H195L	probably damaging	Het
Lrriq4	T	C	3: 30,650,578	F252L	probably benign	Het
Lum	C	T	10: 97,568,390	T49I	possibly damaging	Het
Map3k4	T	A	17: 12,256,794	L84*	probably null	Het
Mindy2	A	G	9: 70,607,456		probably null	Het
Mpped2	G	T	2: 106,783,732	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,757,559	R2058W	probably damaging	Het
Nol8	T	A	13: 49,655,227	L65Q	probably damaging	Het
Olfr1009	A	G	2: 85,721,573	H56R	probably damaging	Het
Olfr1269	A	T	2: 90,118,858	L247M	probably damaging	Het
Olfr1458	G	A	19: 13,103,016	A96V	possibly damaging	Het
Olfr147	T	G	9: 38,403,305	C144G	possibly damaging	Het
Olfr460	C	T	6: 40,571,899	S171L	probably benign	Het
Olfr743	T	C	14: 50,533,702	S97P	possibly damaging	Het
Parp12	G	T	6: 39,102,561	D338E	probably benign	Het
Pde6d	T	C	1: 86,546,692	E77G	probably damaging	Het
Phkg1	A	C	5: 129,873,214		probably null	Het
Pigw	A	C	11: 84,878,360	S48A	probably benign	Het
Pkm	T	A	9: 59,668,910		probably null	Het
Ppp1r3f	G	A	X: 7,560,363	T553M	probably damaging	Het
Retreg2	T	A	1: 75,143,459	F44L	possibly damaging	Het
Ryr2	A	T	13: 11,738,149	M1762K	probably benign	Het
Sec16a	A	G	2: 26,423,567	V1927A	probably benign	Het
Sec23a	G	T	12: 58,978,559	A492E	probably damaging	Het
Skint4	T	A	4: 112,118,114	H82Q	probably benign	Het
Srbd1	T	C	17: 86,139,152	K60E	probably benign	Het
Stk24	A	G	14: 121,308,044	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,578,537	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848	P757S	probably damaging	Het
Tmc2	A	T	2: 130,248,730	E665D	probably damaging	Het
Tmprss15	C	A	16: 79,078,958	D163Y	probably benign	Het
Unc13a	C	A	8: 71,648,981	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,928,670	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,866,340	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,733,968	M450V	possibly damaging	Het
Wars2	T	C	3: 99,187,527	I46T	probably benign	Het
Wdfy3	G	T	5: 101,851,310	T3098K	possibly damaging	Het
Zan	A	T	5: 137,389,360	I4863N	unknown	Het
Zfp616	A	G	11: 74,083,238		probably null	Het
Zfp770	A	T	2: 114,197,033	I185N	probably damaging	Het
Zfp808	T	G	13: 62,173,007	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,882,482	W1221R	probably damaging	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
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
R5953:Fam234b	UTSW	6	135225707	missense	possibly damaging	0.95
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
Z1177:Fam234b	UTSW	6	135198008	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTTAACTTGCAGCAGAAGAATGGA -3'
(R):5'- AGCCAAATACCTGGAGGGAAACTTGA -3'

Sequencing Primer
(F):5'- AAGAGTGCCCTGGGAGACC -3'
(R):5'- AAGCGCTATGCAGGTCTC -3'

Posted On

2014-03-14