Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:Fam234b'

33849

Institutional Source

Beutler Lab

Gene Symbol

Fam234b

Ensembl Gene

ENSMUSG00000030207

Gene Name

family with sequence similarity 234, member B

Synonyms

8430419L09Rik

MMRRC Submission

038470-MU

Accession Numbers

Essential gene?

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

Stock #

R0225 (G1)

Quality Score

180

Status

Validated

Chromosome

Chromosomal Location

135197977-135244955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 135217074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 242 (S242A)

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: S242A

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: S242A

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: S242A

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: S242A

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

Meta Mutation Damage Score

0.2207

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	A	7: 120,540,155 (GRCm38)	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,874,855 (GRCm38)	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328 (GRCm38)	V70L	probably benign	Het
Bicd1	T	C	6: 149,512,950 (GRCm38)	I387T	probably benign	Het
Cd59b	G	A	2: 104,078,941 (GRCm38)		probably null	Het
Chn2	T	C	6: 54,290,451 (GRCm38)		probably benign	Het
Col18a1	T	C	10: 77,088,914 (GRCm38)	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,407,035 (GRCm38)	I461T	probably benign	Het
Dele1	G	A	18: 38,261,264 (GRCm38)	V505I	probably benign	Het
Dnlz	T	C	2: 26,351,368 (GRCm38)	N116S	probably damaging	Het
Esyt2	A	G	12: 116,367,710 (GRCm38)	N736S	probably damaging	Het
F11	T	C	8: 45,249,077 (GRCm38)	T267A	probably benign	Het
Gadd45b	A	G	10: 80,930,347 (GRCm38)	N11S	probably benign	Het
Garnl3	T	C	2: 33,006,804 (GRCm38)	T608A	possibly damaging	Het
Gata3	T	C	2: 9,874,809 (GRCm38)	T119A	probably benign	Het
Gm10647	A	G	9: 66,798,495 (GRCm38)		probably benign	Het
Gm10936	G	A	10: 117,248,130 (GRCm38)		noncoding transcript	Het
Gzmd	A	G	14: 56,129,704 (GRCm38)	W244R	probably damaging	Het
Hdac2	T	A	10: 36,989,184 (GRCm38)	D131E	probably benign	Het
Hira	T	A	16: 18,956,171 (GRCm38)	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,565,037 (GRCm38)		probably benign	Het
Il3	A	G	11: 54,265,680 (GRCm38)		probably null	Het
Itgae	A	C	11: 73,111,342 (GRCm38)	M91L	probably benign	Het
Jkampl	A	G	6: 73,469,419 (GRCm38)	L49P	possibly damaging	Het
Kat2b	A	G	17: 53,641,210 (GRCm38)	E336G	probably damaging	Het
Kctd21	T	A	7: 97,348,091 (GRCm38)	I257N	probably benign	Het
Kif23	C	G	9: 61,925,694 (GRCm38)		probably benign	Het
Lgi3	A	T	14: 70,532,821 (GRCm38)	I109L	probably benign	Het
Lhx9	A	T	1: 138,838,679 (GRCm38)	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606 (GRCm38)	V278A	probably benign	Het
Lrch3	T	A	16: 32,961,754 (GRCm38)		probably benign	Het
Lrp1b	T	C	2: 40,596,983 (GRCm38)	E142G	probably damaging	Het
Map9	G	A	3: 82,359,983 (GRCm38)		probably benign	Het
Miox	C	T	15: 89,334,454 (GRCm38)		probably benign	Het
Mndal	A	T	1: 173,857,513 (GRCm38)		probably benign	Het
Mug2	G	T	6: 122,074,714 (GRCm38)	V952L	possibly damaging	Het
Nepn	A	T	10: 52,400,437 (GRCm38)	T29S	probably damaging	Het
Or14a260	A	G	7: 86,335,595 (GRCm38)	I267T	probably benign	Het
Or4k5	T	G	14: 50,148,635 (GRCm38)	K80Q	probably damaging	Het
Or8d1b	A	G	9: 38,976,278 (GRCm38)	I201V	probably benign	Het
Or8k53	T	C	2: 86,347,728 (GRCm38)	I13V	possibly damaging	Het
Phf3	A	T	1: 30,805,065 (GRCm38)	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,228,243 (GRCm38)	R53G	probably benign	Het
Prickle1	A	G	15: 93,510,777 (GRCm38)	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095 (GRCm38)	C309S	probably benign	Het
Rapgef2	A	T	3: 79,104,105 (GRCm38)	S224R	probably damaging	Het
Rimoc1	T	C	15: 3,986,294 (GRCm38)	K263E	probably damaging	Het
Siglecg	G	A	7: 43,411,171 (GRCm38)	G325D	probably damaging	Het
Skor2	A	T	18: 76,859,098 (GRCm38)	I172F	unknown	Het
Slc9a1	A	G	4: 133,420,605 (GRCm38)	K645E	probably benign	Het
St14	T	A	9: 31,108,284 (GRCm38)		probably null	Het
Tas2r120	T	A	6: 132,657,589 (GRCm38)	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,332,900 (GRCm38)	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256 (GRCm38)	S32P	probably damaging	Het
Ttn	C	A	2: 76,793,130 (GRCm38)	V15368L	possibly damaging	Het
Ttn	T	A	2: 76,710,124 (GRCm38)	R34173W	probably damaging	Het
Tyms	A	G	5: 30,063,258 (GRCm38)	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,933,510 (GRCm38)	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,410,866 (GRCm38)	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,175,049 (GRCm38)	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,167,957 (GRCm38)	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,261 (GRCm38)	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,597,185 (GRCm38)	Y426H	probably benign	Het
Zfp948	A	T	17: 21,587,294 (GRCm38)	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,555,073 (GRCm38)		probably benign	Het
Zyg11a	G	A	4: 108,204,641 (GRCm38)	T321I	probably 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
R0127:Fam234b	UTSW	6	135,218,823 (GRCm38)	splice site	probably benign
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'- AGGTGTTGGCTCACAACCAACTG -3'
(R):5'- AAGGAGGTGACATGCTCTTGCCTG -3'

Sequencing Primer
(F):5'- GGCTCAAGATGTCACATGCT -3'
(R):5'- GTCTTATCACCAAACAGGTTGC -3'

Posted On

2013-05-09