Mutagenetix > Incidental Mutation

Incidental Mutation 'R1464:Fam234b'

165321

Institutional Source

Beutler Lab

Gene Symbol

Fam234b

Ensembl Gene

ENSMUSG00000030207

Gene Name

family with sequence similarity 234, member B

Synonyms

8430419L09Rik

MMRRC Submission

039518-MU

Accession Numbers

Essential gene?

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

Stock #

R1464 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

135197977-135244955 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 135228492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 485 (T485I)

Ref Sequence

ENSEMBL: ENSMUSP00000107547 (fasta)

Gene Model

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

AlphaFold

Q8BYI8

Predicted Effect

probably benign
Transcript: ENSMUST00000111915
AA Change: T485I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107546
Gene: ENSMUSG00000030207
AA Change: T485I

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: T485I

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207
AA Change: T485I

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

noncoding transcript
Transcript: ENSMUST00000151951

Coding Region Coverage

1x: 99.5%
3x: 98.0%
10x: 91.0%
20x: 72.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930430A15Rik	A	G	2: 111,225,403 (GRCm38)		probably null	Het
6030469F06Rik	A	G	12: 31,184,915 (GRCm38)		noncoding transcript	Het
Adamts8	T	A	9: 30,951,377 (GRCm38)	W86R	probably benign	Het
Adh1	A	G	3: 138,288,747 (GRCm38)		probably null	Het
Adipor2	A	T	6: 119,361,843 (GRCm38)	W150R	probably damaging	Het
Aff4	T	A	11: 53,372,524 (GRCm38)	S124T	probably damaging	Het
Ahnak	G	T	19: 9,004,896 (GRCm38)	K1181N	probably damaging	Het
Alkbh5	A	G	11: 60,539,047 (GRCm38)	I209V	probably benign	Het
Ankrd11	T	C	8: 122,892,724 (GRCm38)	E1442G	probably damaging	Het
Apba2	T	A	7: 64,695,549 (GRCm38)	D162E	probably benign	Het
Asic3	G	A	5: 24,413,821 (GRCm38)	G37E	probably damaging	Het
AU040320	A	T	4: 126,792,031 (GRCm38)	K133N	possibly damaging	Het
C1qtnf7	A	G	5: 43,609,139 (GRCm38)	S34G	probably benign	Het
Ccdc148	T	A	2: 58,906,362 (GRCm38)	R463*	probably null	Het
Ccdc148	T	C	2: 58,934,443 (GRCm38)	R329G	probably damaging	Het
Ccdc185	A	G	1: 182,748,698 (GRCm38)	I142T	probably benign	Het
Chrna10	G	A	7: 102,114,247 (GRCm38)	P114S	probably damaging	Het
Chst10	A	G	1: 38,865,691 (GRCm38)	I311T	probably damaging	Het
Cpne9	T	C	6: 113,294,737 (GRCm38)	Y353H	probably damaging	Het
Cubn	G	T	2: 13,325,288 (GRCm38)	A2594E	possibly damaging	Het
Cyp3a13	T	C	5: 137,905,565 (GRCm38)	N277S	possibly damaging	Het
Dctn4	A	G	18: 60,538,406 (GRCm38)	T117A	probably damaging	Het
Ddah1	A	T	3: 145,853,274 (GRCm38)	K96*	probably null	Het
Ddx5	A	C	11: 106,784,885 (GRCm38)	D326E	probably benign	Het
Dlg2	T	C	7: 91,968,198 (GRCm38)	S323P	probably damaging	Het
Dnaaf1	C	T	8: 119,579,310 (GRCm38)	H109Y	probably damaging	Het
Dnah8	C	A	17: 30,695,173 (GRCm38)	R1098S	possibly damaging	Het
Dnajc13	T	C	9: 104,214,167 (GRCm38)	T642A	probably benign	Het
Dnajc18	A	G	18: 35,680,847 (GRCm38)	S290P	possibly damaging	Het
Dscam	T	A	16: 96,801,253 (GRCm38)	H663L	possibly damaging	Het
Emc1	A	G	4: 139,370,937 (GRCm38)	N740S	probably damaging	Het
Enpp2	C	T	15: 54,863,812 (GRCm38)	G541D	probably damaging	Het
Fbxl13	A	T	5: 21,483,991 (GRCm38)	I773K	probably benign	Het
Fmo4	A	G	1: 162,794,355 (GRCm38)	F429S	possibly damaging	Het
Frem1	T	C	4: 83,011,879 (GRCm38)	S277G	probably damaging	Het
Gaa	A	G	11: 119,272,984 (GRCm38)	I221V	probably benign	Het
Gm12794	T	A	4: 101,941,306 (GRCm38)	L158Q	probably damaging	Het
Gm6614	C	T	6: 141,992,517 (GRCm38)	W225*	probably null	Het
H2afy	A	T	13: 56,083,136 (GRCm38)	S310T	probably damaging	Het
Helz2	T	C	2: 181,239,654 (GRCm38)	E345G	probably damaging	Het
Ifna4	G	T	4: 88,842,000 (GRCm38)	R47I	probably damaging	Het
Igsf21	C	A	4: 140,034,525 (GRCm38)	A281S	probably benign	Het
Ikzf3	T	A	11: 98,516,905 (GRCm38)	I37L	probably benign	Het
Jag1	T	C	2: 137,115,648 (GRCm38)	E48G	probably damaging	Het
Jarid2	G	T	13: 44,848,381 (GRCm38)	V57F	probably damaging	Het
Kcnj4	A	G	15: 79,485,404 (GRCm38)	L125P	probably damaging	Het
Kif21b	A	G	1: 136,156,153 (GRCm38)	K713E	possibly damaging	Het
Layn	T	A	9: 51,057,586 (GRCm38)	S286C	probably damaging	Het
Lepr	T	A	4: 101,735,681 (GRCm38)	D164E	probably benign	Het
Map3k1	T	C	13: 111,755,871 (GRCm38)	H950R	possibly damaging	Het
Map4k5	C	A	12: 69,805,350 (GRCm38)	V801L	possibly damaging	Het
Mapkbp1	T	A	2: 120,021,261 (GRCm38)	S895T	probably benign	Het
Naca	T	A	10: 128,048,288 (GRCm38)	M2157K	probably damaging	Het
Nav2	T	C	7: 49,362,204 (GRCm38)	I61T	probably damaging	Het
Nkx2-5	C	A	17: 26,839,279 (GRCm38)	A234S	probably benign	Het
Nol8	G	A	13: 49,676,788 (GRCm38)	S1116N	probably benign	Het
Nppa	T	C	4: 148,000,847 (GRCm38)	S5P	probably benign	Het
Nup210	A	G	6: 91,053,569 (GRCm38)	V123A	possibly damaging	Het
Olfr532	G	T	7: 140,419,373 (GRCm38)	N133K	probably benign	Het
Osbpl11	A	G	16: 33,229,085 (GRCm38)	K604R	probably damaging	Het
Osbpl1a	C	T	18: 12,914,558 (GRCm38)	S113N	probably benign	Het
P2rx4	C	A	5: 122,714,539 (GRCm38)	P92Q	probably damaging	Het
Pde9a	A	T	17: 31,473,162 (GRCm38)	Q148L	probably benign	Het
Phf21b	T	A	15: 84,804,959 (GRCm38)	H122L	probably damaging	Het
Pik3ca	T	A	3: 32,461,841 (GRCm38)	F977I	probably damaging	Het
Pp2d1	T	G	17: 53,515,987 (GRCm38)	K17T	possibly damaging	Het
Ppp4r2	A	G	6: 100,866,566 (GRCm38)	E415G	probably damaging	Het
Prkg1	A	G	19: 30,578,870 (GRCm38)	S559P	probably damaging	Het
Prss45	A	T	9: 110,840,951 (GRCm38)	Y276F	possibly damaging	Het
Ptk7	G	T	17: 46,572,591 (GRCm38)	N849K	probably damaging	Het
Rnf121	A	G	7: 102,031,575 (GRCm38)	I125T	possibly damaging	Het
Rnf17	A	G	14: 56,461,911 (GRCm38)	N502S	probably damaging	Het
Sap25	T	A	5: 137,642,360 (GRCm38)	Y167*	probably null	Het
Sdk2	G	A	11: 113,830,080 (GRCm38)	T1341I	possibly damaging	Het
Sgcb	A	G	5: 73,635,553 (GRCm38)	V302A	probably benign	Het
Skor1	T	A	9: 63,140,111 (GRCm38)	M865L	possibly damaging	Het
Slc35g1	C	A	19: 38,403,217 (GRCm38)	L316I	probably benign	Het
Spint4	T	A	2: 164,698,648 (GRCm38)	L33H	probably damaging	Het
Sptlc3	A	T	2: 139,547,234 (GRCm38)	D178V	probably benign	Het
Tbc1d2	T	A	4: 46,606,491 (GRCm38)	Y818F	possibly damaging	Het
Tbc1d24	A	T	17: 24,181,223 (GRCm38)		probably null	Het
Teddm2	C	T	1: 153,850,531 (GRCm38)	W146*	probably null	Het
Ttn	T	A	2: 76,758,994 (GRCm38)	D12948V	probably damaging	Het
Txndc8	T	C	4: 58,000,274 (GRCm38)	T102A	probably damaging	Het
Uxs1	G	A	1: 43,764,916 (GRCm38)	Q280*	probably null	Het
Vmn1r167	T	C	7: 23,505,256 (GRCm38)	T112A	possibly damaging	Het
Vmn1r195	A	T	13: 22,279,178 (GRCm38)	I273L	probably benign	Het
Vmn1r28	T	A	6: 58,265,232 (GRCm38)	M20K	probably benign	Het
Vmn1r53	G	A	6: 90,223,932 (GRCm38)	L137F	probably benign	Het
Vps13b	C	T	15: 35,709,484 (GRCm38)	A1859V	probably benign	Het
Vwa5b2	A	G	16: 20,596,269 (GRCm38)	H347R	probably benign	Het
Wnk2	G	A	13: 49,081,975 (GRCm38)	P655S	probably damaging	Het
Zan	T	G	5: 137,419,929 (GRCm38)	D2969A	unknown	Het
Zbtb24	A	G	10: 41,455,079 (GRCm38)	H334R	probably damaging	Het
Zfp108	A	G	7: 24,260,548 (GRCm38)	D188G	probably benign	Het
Zfp784	A	T	7: 5,035,801 (GRCm38)	C253S	possibly damaging	Het
Zfr	T	G	15: 12,146,372 (GRCm38)	C336W	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
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
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'- CAATCAAAGCTAACCAACTGTGGGC -3'
(R):5'- TCCACCCAGATACGGCAGTATGAG -3'

Sequencing Primer
(F):5'- ggctgaaaaatggctcaaaac -3'
(R):5'- AAACTGACACCTGCCTTCTGG -3'

Posted On

2014-03-28