Mutagenetix > Incidental Mutation

Incidental Mutation 'R1687:Fam234a'

189459

Institutional Source

Beutler Lab

Gene Symbol

Fam234a

Ensembl Gene

ENSMUSG00000024187

Gene Name

family with sequence similarity 234, member A

Synonyms

Itfg3

MMRRC Submission

039720-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R1687 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

26431673-26463216 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26434282 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 333 (Y333C)

Ref Sequence

ENSEMBL: ENSMUSP00000113418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025020] [ENSMUST00000114988] [ENSMUST00000118487] [ENSMUST00000122058] [ENSMUST00000151293]

AlphaFold

Q8C0Z1

Predicted Effect

probably benign
Transcript: ENSMUST00000025020

SMART Domains

Protein: ENSMUSP00000025020
Gene: ENSMUSG00000024186

Domain	Start	End	E-Value	Type
DEP	34	109	7.78e-17	SMART
G_gamma	220	284	1.38e-19	SMART
GGL	223	284	1.1e-26	SMART
RGS	303	418	6.23e-47	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000114988
AA Change: Y333C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110639
Gene: ENSMUSG00000024187
AA Change: Y333C

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	218	233	N/A	INTRINSIC
low complexity region	415	425	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000118487
AA Change: Y333C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113418
Gene: ENSMUSG00000024187
AA Change: Y333C

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC
low complexity region	218	233	N/A	INTRINSIC
low complexity region	415	425	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122058

SMART Domains

Protein: ENSMUSP00000113885
Gene: ENSMUSG00000024186

Domain	Start	End	E-Value	Type
DEP	32	107	7.78e-17	SMART
G_gamma	218	282	1.38e-19	SMART
GGL	221	282	1.1e-26	SMART
RGS	301	416	6.23e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139639

Predicted Effect

unknown
Transcript: ENSMUST00000141240
AA Change: Y21C

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147220

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152676

Predicted Effect

probably benign
Transcript: ENSMUST00000151293

SMART Domains

Protein: ENSMUSP00000117020
Gene: ENSMUSG00000024187

Domain	Start	End	E-Value	Type
transmembrane domain	50	72	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,184,714 (GRCm39)	F931I	probably benign	Het
Alox15	T	A	11: 70,240,744 (GRCm39)	H212L	probably benign	Het
Arhgap42	A	T	9: 9,035,538 (GRCm39)	V268D	probably benign	Het
Armc9	A	G	1: 86,084,677 (GRCm39)	M1V	probably null	Het
Brca1	C	T	11: 101,380,666 (GRCm39)	C1789Y	probably benign	Het
Cacng4	A	G	11: 107,627,585 (GRCm39)	V138A	probably benign	Het
Camsap1	A	G	2: 25,829,627 (GRCm39)	F699S	probably damaging	Het
Ccm2	A	G	11: 6,535,118 (GRCm39)	R67G	probably damaging	Het
Cdk16	G	A	X: 20,562,898 (GRCm39)		probably null	Het
Cep85	T	C	4: 133,875,324 (GRCm39)	H546R	probably benign	Het
Cfap54	T	C	10: 92,768,502 (GRCm39)	D207G	probably damaging	Het
Cldn9	G	T	17: 23,902,050 (GRCm39)	R192S	probably benign	Het
Crybb3	A	G	5: 113,227,633 (GRCm39)	S63P	probably damaging	Het
Cux1	A	G	5: 136,341,523 (GRCm39)	L615P	probably damaging	Het
Dctn3	A	G	4: 41,715,407 (GRCm39)	Y154H	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dnah3	A	T	7: 119,645,009 (GRCm39)		probably null	Het
Eif1ad2	A	G	12: 87,786,488 (GRCm39)	D133G	unknown	Het
Eml6	G	A	11: 29,783,187 (GRCm39)	H565Y	probably damaging	Het
Ephb6	T	C	6: 41,594,300 (GRCm39)	V610A	probably benign	Het
Fbln1	G	A	15: 85,111,307 (GRCm39)	V154I	probably benign	Het
Frem2	A	T	3: 53,561,373 (GRCm39)	W1045R	probably benign	Het
Fubp1	A	G	3: 151,933,838 (GRCm39)		probably benign	Het
Gja3	T	A	14: 57,274,333 (GRCm39)	N13I	probably damaging	Het
Gpr20	C	A	15: 73,567,751 (GRCm39)	V213L	probably benign	Het
Grk5	T	C	19: 61,065,221 (GRCm39)	I295T	probably damaging	Het
Gucy1b1	A	G	3: 81,945,349 (GRCm39)	F430L	probably damaging	Het
Gzmk	T	A	13: 113,310,462 (GRCm39)	I119L	probably benign	Het
Hadh	T	C	3: 131,038,898 (GRCm39)	I153V	probably benign	Het
Hsfy2	T	C	1: 56,676,012 (GRCm39)	Y175C	probably damaging	Het
Hspa5	T	C	2: 34,665,836 (GRCm39)	I560T	probably benign	Het
Igdcc4	T	C	9: 65,038,945 (GRCm39)	V863A	probably damaging	Het
Il22ra2	A	G	10: 19,508,620 (GRCm39)	D216G	probably benign	Het
Klc2	G	A	19: 5,161,682 (GRCm39)	P303S	probably damaging	Het
Lama5	C	T	2: 179,835,859 (GRCm39)	V1192I	probably benign	Het
Mon2	A	G	10: 122,862,029 (GRCm39)	S772P	probably damaging	Het
Mphosph8	T	A	14: 56,909,935 (GRCm39)	L96Q	probably damaging	Het
Mzf1	C	A	7: 12,786,698 (GRCm39)	R124L	possibly damaging	Het
Nckap1	A	G	2: 80,350,929 (GRCm39)	I726T	probably damaging	Het
Ndnf	A	T	6: 65,680,407 (GRCm39)	T229S	probably benign	Het
Npas3	A	T	12: 54,095,658 (GRCm39)		probably null	Het
Nrap	C	T	19: 56,343,961 (GRCm39)	E729K	probably damaging	Het
Nsun2	T	A	13: 69,775,716 (GRCm39)	F387I	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Pabpc1l	C	T	2: 163,886,226 (GRCm39)	T452M	probably benign	Het
Pcdh10	T	C	3: 45,334,450 (GRCm39)	Y255H	probably damaging	Het
Pdcd6ip	A	T	9: 113,529,087 (GRCm39)	Y72N	probably damaging	Het
Pglyrp1	A	T	7: 18,618,629 (GRCm39)		probably benign	Het
Pkp2	T	C	16: 16,086,573 (GRCm39)		probably null	Het
Ppard	A	G	17: 28,516,154 (GRCm39)	Y126C	probably damaging	Het
Prkcq	T	C	2: 11,295,344 (GRCm39)	Y598H	probably damaging	Het
Rhobtb1	A	G	10: 69,106,109 (GRCm39)	T287A	probably damaging	Het
Sema4b	T	C	7: 79,869,010 (GRCm39)	Y361H	probably damaging	Het
Slfn9	A	T	11: 82,872,983 (GRCm39)	I640N	probably damaging	Het
Smurf2	C	A	11: 106,726,896 (GRCm39)		probably null	Het
Spag5	T	C	11: 78,195,755 (GRCm39)	V354A	probably benign	Het
Sptb	T	C	12: 76,650,473 (GRCm39)	D1748G	possibly damaging	Het
St6galnac5	C	A	3: 152,686,887 (GRCm39)	L22F	probably benign	Het
Sugp2	T	C	8: 70,695,284 (GRCm39)	S86P	probably damaging	Het
Tnk1	T	C	11: 69,747,299 (GRCm39)	I111V	possibly damaging	Het
Tnni3k	T	A	3: 154,645,263 (GRCm39)	I541F	possibly damaging	Het
Trim36	G	T	18: 46,321,724 (GRCm39)	H108N	possibly damaging	Het
Ttn	T	C	2: 76,701,251 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,935,317 (GRCm39)	S89R	probably benign	Het
Vmn2r121	T	C	X: 123,042,488 (GRCm39)	D223G	probably benign	Het
Vmn2r65	T	A	7: 84,590,026 (GRCm39)	Y630F	probably benign	Het
Washc2	T	A	6: 116,233,673 (GRCm39)	S900T	probably benign	Het
Wdr72	A	G	9: 74,117,481 (GRCm39)	N731S	probably benign	Het
Xrra1	T	A	7: 99,525,451 (GRCm39)	F123L	probably damaging	Het
Zfp648	A	G	1: 154,079,988 (GRCm39)	D49G	probably benign	Het

Other mutations in Fam234a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00907:Fam234a	APN	17	26,432,500 (GRCm39)	missense	probably damaging	1.00
IGL02635:Fam234a	APN	17	26,433,427 (GRCm39)	missense	possibly damaging	0.63
R0269:Fam234a	UTSW	17	26,435,591 (GRCm39)	missense	probably benign
R0617:Fam234a	UTSW	17	26,435,591 (GRCm39)	missense	probably benign
R1971:Fam234a	UTSW	17	26,435,629 (GRCm39)	splice site	probably null
R2016:Fam234a	UTSW	17	26,437,290 (GRCm39)	missense	probably benign	0.07
R3826:Fam234a	UTSW	17	26,437,163 (GRCm39)	missense	probably benign
R3827:Fam234a	UTSW	17	26,437,163 (GRCm39)	missense	probably benign
R3829:Fam234a	UTSW	17	26,437,163 (GRCm39)	missense	probably benign
R4133:Fam234a	UTSW	17	26,432,532 (GRCm39)	missense	probably damaging	0.99
R4190:Fam234a	UTSW	17	26,432,834 (GRCm39)	missense	probably damaging	0.98
R4193:Fam234a	UTSW	17	26,432,834 (GRCm39)	missense	probably damaging	0.98
R4858:Fam234a	UTSW	17	26,435,591 (GRCm39)	missense	probably benign
R4885:Fam234a	UTSW	17	26,432,559 (GRCm39)	missense	probably benign	0.00
R5117:Fam234a	UTSW	17	26,432,512 (GRCm39)	missense	probably benign	0.18
R5719:Fam234a	UTSW	17	26,433,627 (GRCm39)	missense	possibly damaging	0.52
R5735:Fam234a	UTSW	17	26,432,679 (GRCm39)	missense	probably damaging	1.00
R6271:Fam234a	UTSW	17	26,437,211 (GRCm39)	missense	probably benign	0.19
R6341:Fam234a	UTSW	17	26,432,667 (GRCm39)	missense	probably damaging	1.00
R6365:Fam234a	UTSW	17	26,439,429 (GRCm39)	nonsense	probably null
R6621:Fam234a	UTSW	17	26,432,855 (GRCm39)	missense	probably damaging	1.00
R7393:Fam234a	UTSW	17	26,435,598 (GRCm39)	missense	probably benign	0.01
R7801:Fam234a	UTSW	17	26,437,172 (GRCm39)	missense	probably benign	0.00
R7956:Fam234a	UTSW	17	26,435,551 (GRCm39)	missense	probably damaging	1.00
R8324:Fam234a	UTSW	17	26,437,672 (GRCm39)	missense	probably benign	0.11
R8393:Fam234a	UTSW	17	26,437,149 (GRCm39)	missense	probably damaging	1.00
R8804:Fam234a	UTSW	17	26,435,531 (GRCm39)	critical splice donor site	probably benign
R9417:Fam234a	UTSW	17	26,435,225 (GRCm39)	missense	probably benign
R9740:Fam234a	UTSW	17	26,432,789 (GRCm39)	missense	probably damaging	0.99
R9758:Fam234a	UTSW	17	26,432,627 (GRCm39)	missense	probably benign	0.00
RF020:Fam234a	UTSW	17	26,437,725 (GRCm39)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- ATGACCAGCAGTTTCAGCAGCC -3'
(R):5'- CCCCAGCAGTGAAGAAGAATCTCG -3'

Sequencing Primer
(F):5'- GGAGAACACTGGACTTCCAGC -3'
(R):5'- ATCTCGGATGGGAGGACC -3'

Posted On

2014-05-14