Mutagenetix > Incidental Mutation

Incidental Mutation 'R5133:Fam234b'

395925

Institutional Source

Beutler Lab

Gene Symbol

Fam234b

Ensembl Gene

ENSMUSG00000030207

Gene Name

family with sequence similarity 234, member B

Synonyms

8430419L09Rik

MMRRC Submission

042721-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R5133 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135197977-135244955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 135209195 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 67 (V67A)

Ref Sequence

ENSEMBL: ENSMUSP00000107547 (fasta)

Gene Model

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

AlphaFold

Q8BYI8

Predicted Effect

probably benign
Transcript: ENSMUST00000111915
AA Change: V67A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: V67A

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
AA Change: V67A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: V67A

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

unknown
Transcript: ENSMUST00000130612
AA Change: W37R

Predicted Effect

unknown
Transcript: ENSMUST00000151071
AA Change: W37R

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 101 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	A	T	4: 128,762,141 (GRCm38)	T101S	probably damaging	Het
Abraxas2	C	T	7: 132,883,146 (GRCm38)	A306V	probably benign	Het
Acvr1c	T	A	2: 58,283,506 (GRCm38)	N248I	probably damaging	Het
Adgrv1	C	T	13: 81,439,441 (GRCm38)	R4537Q	probably damaging	Het
Adrb3	A	C	8: 27,227,770 (GRCm38)	M217R	probably damaging	Het
Afg3l1	T	C	8: 123,489,793 (GRCm38)	V257A	probably benign	Het
Agbl1	C	A	7: 76,422,156 (GRCm38)	Q334K	probably benign	Het
Aox4	A	T	1: 58,236,676 (GRCm38)	D389V	probably benign	Het
Apob	A	T	12: 8,008,898 (GRCm38)	Q2427L	probably damaging	Het
Asxl3	T	C	18: 22,516,708 (GRCm38)	C585R	probably damaging	Het
Baz2a	G	A	10: 128,116,126 (GRCm38)	G571D	probably damaging	Het
Baz2b	A	T	2: 59,962,024 (GRCm38)	S587T	probably benign	Het
Bicdl2	T	C	17: 23,661,821 (GRCm38)	L14P	unknown	Het
Cachd1	G	A	4: 100,994,738 (GRCm38)	S1177N	probably damaging	Het
Cacna2d3	A	G	14: 29,293,178 (GRCm38)	F86L	possibly damaging	Het
Ccdc192	C	T	18: 57,563,969 (GRCm38)	T65I	possibly damaging	Het
Cd3d	A	T	9: 44,984,998 (GRCm38)	E28D	probably damaging	Het
Cmya5	T	C	13: 93,093,372 (GRCm38)	K1736R	possibly damaging	Het
Col12a1	A	G	9: 79,605,174 (GRCm38)	V2913A	probably damaging	Het
Cops8	A	G	1: 90,611,002 (GRCm38)	D51G	probably damaging	Het
Csgalnact1	T	C	8: 68,460,971 (GRCm38)	E194G	probably benign	Het
Csn1s1	A	G	5: 87,680,878 (GRCm38)	D267G	possibly damaging	Het
Cyp2c40	T	C	19: 39,807,219 (GRCm38)	N172S	probably benign	Het
Dhtkd1	T	A	2: 5,904,002 (GRCm38)	K760N	probably damaging	Het
Dnah17	T	C	11: 118,117,113 (GRCm38)	K691E	probably benign	Het
Dppa4	G	A	16: 48,292,971 (GRCm38)	R189Q	probably benign	Het
Dsp	G	A	13: 38,197,702 (GRCm38)	D2808N	possibly damaging	Het
Egr2	A	G	10: 67,539,775 (GRCm38)	E17G	probably damaging	Het
Ehmt1	G	T	2: 24,877,497 (GRCm38)	P135T	probably damaging	Het
Epas1	A	G	17: 86,809,454 (GRCm38)	N184S	probably damaging	Het
Ezh2	C	T	6: 47,540,750 (GRCm38)	C584Y	probably damaging	Het
F10	T	C	8: 13,055,698 (GRCm38)	V421A	probably damaging	Het
Fabp3	C	T	4: 130,312,387 (GRCm38)	T57I	probably benign	Het
Fam186a	T	G	15: 99,955,493 (GRCm38)	D122A	unknown	Het
Fam227b	G	A	2: 126,116,123 (GRCm38)	P241S	probably damaging	Het
Fbn2	T	C	18: 58,039,340 (GRCm38)	D2131G	probably damaging	Het
Fgfr4	T	C	13: 55,160,015 (GRCm38)	Y271H	probably damaging	Het
Gnmt	A	T	17: 46,725,934 (GRCm38)	S250T	probably benign	Het
Golgb1	C	A	16: 36,891,457 (GRCm38)	Q208K	possibly damaging	Het
Grn	C	A	11: 102,430,554 (GRCm38)		probably benign	Het
Grwd1	T	C	7: 45,825,874 (GRCm38)	T415A	probably benign	Het
Gsk3b	G	A	16: 38,240,520 (GRCm38)	R418H	probably damaging	Het
Hap1	T	G	11: 100,351,531 (GRCm38)	M382L	probably benign	Het
Hspa12b	A	G	2: 131,139,508 (GRCm38)	E221G	possibly damaging	Het
Hspa4l	T	A	3: 40,786,747 (GRCm38)	D709E	possibly damaging	Het
Il17ra	A	G	6: 120,481,553 (GRCm38)	E555G	possibly damaging	Het
Il27ra	T	C	8: 84,034,059 (GRCm38)	T426A	possibly damaging	Het
Jup	T	C	11: 100,383,115 (GRCm38)	D200G	probably benign	Het
Kcnq1	T	C	7: 143,194,346 (GRCm38)		probably null	Het
Kctd9	C	T	14: 67,729,356 (GRCm38)	T106I	probably damaging	Het
Kmt5b	T	A	19: 3,802,240 (GRCm38)	H159Q	probably damaging	Het
Kprp	C	T	3: 92,824,522 (GRCm38)	R407Q	unknown	Het
Kras	T	C	6: 145,232,153 (GRCm38)	Q131R	probably benign	Het
Krt16	T	A	11: 100,247,631 (GRCm38)	R230S	probably damaging	Het
Lpar6	G	A	14: 73,238,707 (GRCm38)	C36Y	probably damaging	Het
Lrp10	T	C	14: 54,469,610 (GRCm38)	S635P	probably benign	Het
Mapre2	C	A	18: 23,858,133 (GRCm38)	H153N	possibly damaging	Het
Mark3	C	A	12: 111,655,328 (GRCm38)	R703S	probably damaging	Het
Mboat2	A	G	12: 24,959,066 (GRCm38)	D457G	probably benign	Het
Med13	T	C	11: 86,319,849 (GRCm38)	D489G	probably benign	Het
Msh2	C	A	17: 87,723,413 (GRCm38)	A906E	probably benign	Het
Mtus1	T	C	8: 41,083,192 (GRCm38)	T496A	probably benign	Het
Nckap5	T	C	1: 126,033,960 (GRCm38)	H204R	probably benign	Het
Nlrc4	G	T	17: 74,446,717 (GRCm38)	P224T	possibly damaging	Het
Oprl1	T	A	2: 181,718,610 (GRCm38)	I153N	probably damaging	Het
Or13a27	A	T	7: 140,345,323 (GRCm38)	I222N	probably damaging	Het
Or4c116	A	T	2: 89,111,796 (GRCm38)		probably null	Het
Or5an1	T	C	19: 12,283,306 (GRCm38)	L86P	possibly damaging	Het
Or5b121	T	A	19: 13,530,078 (GRCm38)	M135K	probably damaging	Het
Otud4	G	A	8: 79,655,689 (GRCm38)	V176I	probably damaging	Het
Pcdhb5	T	C	18: 37,320,890 (GRCm38)	F108L	probably benign	Het
Pde8b	T	C	13: 95,086,742 (GRCm38)	I335V	probably benign	Het
Pdzd7	T	A	19: 45,028,429 (GRCm38)	I886L	possibly damaging	Het
Prune2	C	T	19: 17,003,631 (GRCm38)	P51S	probably damaging	Het
Ptpre	C	T	7: 135,669,132 (GRCm38)	H346Y	probably benign	Het
Pwwp3a	T	C	10: 80,232,868 (GRCm38)	L282P	probably benign	Het
Rab27b	T	C	18: 69,989,588 (GRCm38)	D100G	probably damaging	Het
Rpf1	A	G	3: 146,506,538 (GRCm38)	L349S	probably damaging	Het
Samd14	T	C	11: 95,021,583 (GRCm38)	S233P	probably damaging	Het
Sema6a	C	A	18: 47,300,128 (GRCm38)	V79F	probably damaging	Het
Setbp1	A	G	18: 78,857,482 (GRCm38)	I990T	probably damaging	Het
Setx	A	G	2: 29,180,081 (GRCm38)	R2633G	probably benign	Het
Siae	T	G	9: 37,646,520 (GRCm38)	I541S	possibly damaging	Het
Slc13a1	A	G	6: 24,103,429 (GRCm38)	S372P	possibly damaging	Het
Smarcc2	T	C	10: 128,461,473 (GRCm38)		probably null	Het
Snrpf	T	C	10: 93,588,123 (GRCm38)	S2G	probably benign	Het
Speer2	C	A	16: 69,858,820 (GRCm38)	K39N	probably null	Het
Spink5	T	G	18: 43,986,423 (GRCm38)	F267C	probably damaging	Het
Tgfbrap1	G	T	1: 43,075,506 (GRCm38)	R145S	probably damaging	Het
Tmem161b	C	A	13: 84,294,768 (GRCm38)	T269K	possibly damaging	Het
Tmem64	T	C	4: 15,281,119 (GRCm38)	I304T	probably damaging	Het
Tomm7	A	G	5: 23,844,006 (GRCm38)	I23T	probably benign	Het
Top6bl	T	A	19: 4,658,421 (GRCm38)	S194C	probably damaging	Het
Ttn	A	T	2: 76,811,243 (GRCm38)	L5176Q	possibly damaging	Het
Ttr	C	T	18: 20,670,110 (GRCm38)	A111V	possibly damaging	Het
Usp47	T	A	7: 112,083,882 (GRCm38)	Y561N	probably damaging	Het
Vmn1r17	A	G	6: 57,360,843 (GRCm38)	V130A	probably benign	Het
Wdr45b	A	G	11: 121,328,795 (GRCm38)	I309T	probably benign	Het
Wnt6	T	C	1: 74,784,596 (GRCm38)	L364P	probably damaging	Het
Zc3h13	T	C	14: 75,336,009 (GRCm38)	L1530P	probably damaging	Het
Zfp933	A	G	4: 147,826,864 (GRCm38)	W60R	probably benign	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
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
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'- TTTCCAGGGAAGAAGAGCCC -3'
(R):5'- CTGGAGGGAAACTTGAGTGCAC -3'

Sequencing Primer
(F):5'- CAGACCTCGGTGAGTACGAC -3'
(R):5'- GGGAAACTTGAGTGCACTAACTTATG -3'

Posted On

2016-06-21