Mutagenetix > Incidental Mutation

Incidental Mutation 'R7108:BC003331'

551292

Institutional Source

Beutler Lab

Gene Symbol

BC003331

Ensembl Gene

ENSMUSG00000006010

Gene Name

cDNA sequence BC003331

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.802) question?

Stock #

R7108 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

150361305-150393080 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150382290 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 198 (Y198C)

Ref Sequence

ENSEMBL: ENSMUSP00000107544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006167] [ENSMUST00000094477] [ENSMUST00000097546] [ENSMUST00000097547] [ENSMUST00000111913]

AlphaFold

Q4PJX1

Predicted Effect

probably benign
Transcript: ENSMUST00000006167
AA Change: Y198C

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

SMART Domains

Protein: ENSMUSP00000006167
Gene: ENSMUSG00000006010
AA Change: Y198C

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	364	1.8e-107	PFAM
transmembrane domain	402	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094477
AA Change: Y198C

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000092050
Gene: ENSMUSG00000006010
AA Change: Y198C

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	383	2.8e-120	PFAM
transmembrane domain	424	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097546
AA Change: Y198C

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

SMART Domains

Protein: ENSMUSP00000095152
Gene: ENSMUSG00000006010
AA Change: Y198C

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	364	1.8e-107	PFAM
transmembrane domain	402	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097547
AA Change: Y198C

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

SMART Domains

Protein: ENSMUSP00000095153
Gene: ENSMUSG00000006010
AA Change: Y198C

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	209	1.2e-57	PFAM
Pfam:ODR4-like	206	354	3.1e-43	PFAM
transmembrane domain	392	414	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111913
AA Change: Y198C

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000107544
Gene: ENSMUSG00000006010
AA Change: Y198C

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	386	7.1e-113	PFAM
transmembrane domain	424	446	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,880,924	S411P	probably damaging	Het
4930503L19Rik	A	T	18: 70,468,476	Y112N	probably benign	Het
Abcd2	A	T	15: 91,191,274	V112E	probably benign	Het
Acadm	A	T	3: 153,925,800	Y353*	probably null	Het
Adra2c	A	G	5: 35,279,998	D38G	probably benign	Het
Ankrd10	C	T	8: 11,612,624	G370R	probably damaging	Het
Arfgef2	T	A	2: 166,873,608	N1324K	possibly damaging	Het
Atp6v1b2	A	G	8: 69,102,501	T172A	probably damaging	Het
Bloc1s1	T	A	10: 128,922,723	K22M	possibly damaging	Het
Brpf3	A	G	17: 28,817,125	T599A	probably benign	Het
Cacna1e	TTCCAGTCTC	TTC	1: 154,468,995		probably null	Het
Casc1	G	A	6: 145,185,865	Q351*	probably null	Het
Ccdc186	T	C	19: 56,798,760	D592G	probably damaging	Het
Cfap161	A	T	7: 83,793,310	D98E	possibly damaging	Het
Cfi	G	A	3: 129,875,016	V564M	probably damaging	Het
Cilp2	T	A	8: 69,881,129	Q1073L	probably damaging	Het
Cox6b1	A	G	7: 30,623,504	C40R	possibly damaging	Het
Cyp3a59	A	T	5: 146,096,333	M172L	probably benign	Het
Cyth1	T	C	11: 118,182,913	D198G	probably damaging	Het
Daam2	T	C	17: 49,460,674	D963G	probably damaging	Het
Ddi2	A	T	4: 141,705,937	D209E	probably benign	Het
Dnah12	G	A	14: 26,778,912		probably null	Het
Dpagt1	G	T	9: 44,327,021		probably benign	Het
Drc3	T	A	11: 60,370,554	F177Y	probably benign	Het
Dsg2	T	C	18: 20,601,863	V966A	probably damaging	Het
E430018J23Rik	A	G	7: 127,391,523	S431P	probably benign	Het
E4f1	A	G	17: 24,444,578	V633A	probably damaging	Het
Eif2ak2	T	A	17: 78,858,536	R411*	probably null	Het
Frem2	T	C	3: 53,653,513	E1191G	probably damaging	Het
Fry	T	C	5: 150,395,786	V972A	probably damaging	Het
Fry	T	A	5: 150,491,090	C467S		Het
Fscn1	T	C	5: 142,960,515	Y23H	probably damaging	Het
Gm16506	T	A	14: 43,724,302	I163F		Het
Gm21103	T	C	14: 6,303,774	Y92C	probably damaging	Het
Golgb1	A	G	16: 36,913,721	H1151R	probably benign	Het
Gprc5c	T	C	11: 114,864,282	Y262H	probably damaging	Het
Hc	G	T	2: 35,039,694	N245K	probably benign	Het
Hps6	T	A	19: 46,005,490	L622Q	probably damaging	Het
Hsd17b1	T	C	11: 101,079,209	Y156H	probably damaging	Het
Ireb2	T	A	9: 54,906,641	F799L	probably damaging	Het
Irf1	A	G	11: 53,774,412	D205G	probably damaging	Het
Kif12	A	T	4: 63,171,205	F103L	probably benign	Het
Krt12	C	T	11: 99,416,052	V475M	unknown	Het
Lca5	T	A	9: 83,423,169	T195S	probably benign	Het
Lrrc17	T	C	5: 21,575,339	V437A	possibly damaging	Het
Malt1	G	T	18: 65,464,051	D468Y	probably damaging	Het
Man2b2	C	T	5: 36,815,485	A562T	probably benign	Het
Mrc1	C	T	2: 14,304,146	Q794*	probably null	Het
Muc16	T	A	9: 18,655,233	I1997L	unknown	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,634,450		probably null	Het
Mycbp2	A	T	14: 103,122,603	F4518Y	probably damaging	Het
Myo5a	T	A	9: 75,129,992	I159N	probably damaging	Het
Nat1	T	C	8: 67,491,020	V19A	probably benign	Het
Ndst4	A	G	3: 125,561,471	T343A	probably damaging	Het
Nlrp9b	A	T	7: 20,045,930	L839F	probably damaging	Het
Nxnl1	A	G	8: 71,566,554	I9T	probably benign	Het
Olfr1351	C	A	10: 79,017,649	S109*	probably null	Het
Olfr331	T	A	11: 58,502,554	M7L	probably benign	Het
Olfr364-ps1	C	T	2: 37,146,260	T16I	probably benign	Het
Olfr548-ps1	A	T	7: 102,541,992	I19F	probably damaging	Het
Olfr693	G	A	7: 106,678,048	A146V	probably benign	Het
Pou5f2	T	C	13: 78,025,265	S109P	possibly damaging	Het
Prkcz	G	A	4: 155,286,793	Q321*	probably null	Het
Prr18	G	T	17: 8,341,531	R173L	probably damaging	Het
Ralgapb	T	C	2: 158,492,460	Y1364H	probably damaging	Het
Ralgapb	A	T	2: 158,494,662	I1407F	probably damaging	Het
Sacs	T	A	14: 61,211,009	Y3501*	probably null	Het
Sall3	G	A	18: 80,973,754	P320S	probably benign	Het
Scn8a	A	T	15: 101,039,778	H1676L	probably benign	Het
Shmt1	T	C	11: 60,798,644	D178G	probably damaging	Het
Slmap	T	C	14: 26,422,521	K737R	probably benign	Het
Ssh2	G	A	11: 77,454,794	V1202I	probably benign	Het
Stard7	A	G	2: 127,295,494	D288G	possibly damaging	Het
Tek	A	T	4: 94,853,487	D827V	probably damaging	Het
Tfap2e	A	G	4: 126,720,563	L276P	probably damaging	Het
Tns3	T	C	11: 8,437,251	N1312S	probably benign	Het
Tubd1	T	A	11: 86,557,805	S315T	probably damaging	Het
Ube2f	T	A	1: 91,265,219	C50*	probably null	Het
Vmn2r109	T	C	17: 20,564,744	I5V	probably benign	Het
Vmn2r39	T	C	7: 9,023,668	T445A	probably damaging	Het

Other mutations in BC003331

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:BC003331	APN	1	150382338	missense	probably benign	0.10
IGL02189:BC003331	APN	1	150372033	missense	possibly damaging	0.94
IGL02257:BC003331	APN	1	150386404	missense	probably damaging	0.99
IGL02485:BC003331	APN	1	150363489	critical splice donor site	probably null
IGL02585:BC003331	APN	1	150363521	missense	probably damaging	0.96
IGL02712:BC003331	APN	1	150386356	critical splice donor site	probably null
IGL02902:BC003331	APN	1	150384428	critical splice donor site	probably null
IGL03014:BC003331	APN	1	150383053	splice site	probably benign
IGL03124:BC003331	APN	1	150386425	missense	probably benign	0.00
IGL03181:BC003331	APN	1	150363539	missense	probably benign	0.06
IGL03344:BC003331	APN	1	150363544	missense	probably damaging	0.99
R1170:BC003331	UTSW	1	150386391	missense	probably benign	0.00
R1796:BC003331	UTSW	1	150375554	missense	probably benign
R1902:BC003331	UTSW	1	150388609	splice site	probably null
R2149:BC003331	UTSW	1	150388559	missense	probably benign	0.05
R2155:BC003331	UTSW	1	150382335	missense	possibly damaging	0.68
R2375:BC003331	UTSW	1	150390234	critical splice donor site	probably null
R3786:BC003331	UTSW	1	150384531	missense	probably benign	0.21
R3948:BC003331	UTSW	1	150388557	nonsense	probably null
R4589:BC003331	UTSW	1	150384487	missense	probably benign	0.11
R4590:BC003331	UTSW	1	150386352	splice site	probably null
R4815:BC003331	UTSW	1	150374846	missense	probably damaging	0.99
R5196:BC003331	UTSW	1	150382389	missense	probably damaging	1.00
R5437:BC003331	UTSW	1	150363518	missense	probably benign	0.01
R5549:BC003331	UTSW	1	150372158	missense	possibly damaging	0.86
R5677:BC003331	UTSW	1	150374837	missense	probably damaging	1.00
R5896:BC003331	UTSW	1	150380360	missense	probably benign	0.10
R6472:BC003331	UTSW	1	150381522	missense	probably benign	0.15
R7402:BC003331	UTSW	1	150386356	critical splice donor site	probably null
R7662:BC003331	UTSW	1	150382294	missense	probably benign
R7767:BC003331	UTSW	1	150372037	missense	probably benign	0.00
R7810:BC003331	UTSW	1	150392908	utr 5 prime	probably benign
R7916:BC003331	UTSW	1	150384498	missense	probably benign	0.01
R8114:BC003331	UTSW	1	150388557	nonsense	probably null
R8120:BC003331	UTSW	1	150384426	splice site	probably null
R8435:BC003331	UTSW	1	150382269	missense	possibly damaging	0.90
R9397:BC003331	UTSW	1	150362865	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGGTCAACAGAAGGTCATC -3'
(R):5'- ACAGTTCAGGATTTTAGCTTGTCTG -3'

Sequencing Primer
(F):5'- GGTCAACAGAAGGTCATCATTAGATC -3'
(R):5'- AGGATTTTAGCTTGTCTGGGTTATTG -3'

Posted On

2019-05-15