Mutagenetix > Incidental Mutations

Incidental Mutation 'R0650:BC024978'

62203

Institutional Source

Beutler Lab

Gene Symbol

BC024978

Ensembl Gene

ENSMUSG00000078786

Gene Name

cDNA sequence BC024978

Synonyms

MMRRC Submission

038835-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R0650 (G1)

Quality Score

200

Status

Validated

Chromosome

Chromosomal Location

27195781-27210186 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 27202647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 233 (H233L)

Ref Sequence

ENSEMBL: ENSMUSP00000137189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003850] [ENSMUST00000108379] [ENSMUST00000179391]

AlphaFold

J3QPC3

Predicted Effect

probably benign
Transcript: ENSMUST00000003850

SMART Domains

Protein: ENSMUSP00000003850
Gene: ENSMUSG00000003752

Domain	Start	End	E-Value	Type
low complexity region	28	59	N/A	INTRINSIC
low complexity region	346	363	N/A	INTRINSIC
Pfam:IPK	462	673	3.7e-42	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000108379
AA Change: H233L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104016
Gene: ENSMUSG00000078786
AA Change: H233L

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
low complexity region	50	80	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000116883

Predicted Effect

unknown
Transcript: ENSMUST00000123108
AA Change: H5L

Predicted Effect

unknown
Transcript: ENSMUST00000155931
AA Change: H196L

SMART Domains

Protein: ENSMUSP00000123290
Gene: ENSMUSG00000078786
AA Change: H196L

Domain	Start	End	E-Value	Type
low complexity region	14	44	N/A	INTRINSIC
low complexity region	253	264	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179391
AA Change: H233L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000137189
Gene: ENSMUSG00000078786
AA Change: H233L

Domain	Start	End	E-Value	Type
low complexity region	26	42	N/A	INTRINSIC
low complexity region	50	80	N/A	INTRINSIC

Meta Mutation Damage Score

0.4632

Coding Region Coverage

1x: 99.5%
3x: 99.0%
10x: 97.8%
20x: 96.0%

Validation Efficiency

99% (77/78)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N15Rik	A	G	X: 69,945,785	S96G	unknown	Het
4930447C04Rik	T	C	12: 72,910,056	D120G	probably damaging	Het
4930548H24Rik	T	C	5: 31,485,968		probably benign	Het
Adgrg5	T	A	8: 94,934,157		probably null	Het
Afg3l2	G	T	18: 67,415,557	H534Q	possibly damaging	Het
Ankar	G	A	1: 72,656,221		probably benign	Het
Arid2	T	A	15: 96,402,049	F1814L	possibly damaging	Het
Asb15	C	T	6: 24,566,164	A372V	probably damaging	Het
Atg16l1	A	T	1: 87,781,699	D403V	possibly damaging	Het
Bnc2	T	C	4: 84,293,196	D407G	probably benign	Het
Cdan1	A	G	2: 120,726,045	V633A	probably benign	Het
Cfap46	T	C	7: 139,605,655	Y2482C	unknown	Het
Chd8	T	C	14: 52,202,304	E964G	probably benign	Het
Cyp2s1	A	G	7: 25,809,258	V253A	probably damaging	Het
Depdc1b	A	G	13: 108,323,909	N18D	probably damaging	Het
Fis1	T	A	5: 136,962,194	V4E	probably damaging	Het
Gba2	T	A	4: 43,570,424		probably null	Het
Gm2381	C	T	7: 42,820,080	G207R	probably damaging	Het
Gpr89	T	A	3: 96,897,324		probably benign	Het
Gtf2i	A	G	5: 134,261,837		probably benign	Het
Herc2	T	G	7: 56,113,210	S896A	probably damaging	Het
Huwe1	T	C	X: 151,876,313	S921P	probably damaging	Het
Iqgap1	T	A	7: 80,736,395	K936I	probably damaging	Het
Kcna4	T	A	2: 107,295,582	Y220*	probably null	Het
Krt18	A	G	15: 102,029,485	D139G	possibly damaging	Het
Krt83	T	C	15: 101,487,040	N392D	probably damaging	Het
L3mbtl4	G	A	17: 68,774,291	C558Y	probably damaging	Het
Lamc2	T	A	1: 153,143,876	I440F	possibly damaging	Het
Lrrc28	T	C	7: 67,618,085	N98S	probably damaging	Het
Lrrk1	G	A	7: 66,292,336	A718V	probably damaging	Het
Mrgprx2	T	C	7: 48,482,918	I51V	probably damaging	Het
Myt1	A	T	2: 181,782,615	R25*	probably null	Het
Npdc1	C	T	2: 25,408,009	T199I	probably benign	Het
Nup98	T	A	7: 102,152,453	Y755F	probably damaging	Het
Olfr494	T	A	7: 108,367,789	C100S	probably damaging	Het
Olfr502	G	T	7: 108,523,082	N289K	probably damaging	Het
Olfr638	A	G	7: 104,003,239		probably null	Het
Olfr936	T	A	9: 39,046,700	M240L	probably benign	Het
Osgin1	A	T	8: 119,445,472	Y335F	probably damaging	Het
Pde10a	A	T	17: 8,942,965	I493F	probably damaging	Het
Pdgfrb	A	G	18: 61,079,708	I895V	probably benign	Het
Peg10	T	TCCCCANNANNNN	6: 4,756,475		probably benign	Het
Pidd1	A	T	7: 141,440,813	L457*	probably null	Het
Pik3c2a	A	G	7: 116,346,247		probably benign	Het
Pkd1l3	C	G	8: 109,623,649	D375E	possibly damaging	Het
Plcg1	C	T	2: 160,753,363		probably benign	Het
Prr13	A	C	15: 102,462,215	*138C	probably null	Het
Prrc2b	T	C	2: 32,229,255		probably benign	Het
Psph	T	C	5: 129,791,570		probably benign	Het
Ripor1	A	G	8: 105,618,114		probably benign	Het
Scg3	A	G	9: 75,669,335	S253P	probably damaging	Het
Sema6a	G	A	18: 47,290,045		probably null	Het
Sgk1	A	G	10: 21,882,657	N7D	probably damaging	Het
Skor2	T	C	18: 76,876,560	F940L	probably benign	Het
Slbp	T	C	5: 33,645,489		probably benign	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Susd5	A	T	9: 114,082,535	H171L	possibly damaging	Het
Sybu	T	C	15: 44,673,268	E354G	probably benign	Het
Synpo	T	C	18: 60,602,340	N845D	possibly damaging	Het
Tdrd6	A	T	17: 43,628,159	I666N	probably damaging	Het
Tm9sf4	T	C	2: 153,187,365	I111T	probably benign	Het
Tnc	T	C	4: 64,008,734	T852A	probably benign	Het
Tnfrsf10b	T	A	14: 69,776,176	I185K	probably damaging	Het
Tnks1bp1	A	G	2: 85,062,630	E305G	possibly damaging	Het
Tnrc6b	T	C	15: 80,784,758	V22A	probably benign	Het
Ttn	A	T	2: 76,768,612	F19319Y	probably damaging	Het
Ubr5	T	C	15: 38,030,807		probably benign	Het
Ugt2b5	T	A	5: 87,139,768	Q191L	probably benign	Het
Urod	T	C	4: 116,991,276	T300A	probably benign	Het
Vmn1r213	A	G	13: 23,011,394		probably benign	Het
Znfx1	G	A	2: 167,047,654	Q723*	probably null	Het

Other mutations in BC024978

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02654:BC024978	APN	7	27203873	missense	probably damaging	0.97
IGL03092:BC024978	APN	7	27201136	missense	probably damaging	1.00
IGL03184:BC024978	APN	7	27197007	utr 5 prime	probably benign
IGL03348:BC024978	APN	7	27197120	splice site	probably null
R0245:BC024978	UTSW	7	27200603	missense	possibly damaging	0.92
R1522:BC024978	UTSW	7	27202680	missense	probably damaging	1.00
R4731:BC024978	UTSW	7	27201043	missense	probably damaging	1.00
R4732:BC024978	UTSW	7	27201043	missense	probably damaging	1.00
R4733:BC024978	UTSW	7	27201043	missense	probably damaging	1.00
R5502:BC024978	UTSW	7	27197117	missense	possibly damaging	0.90
R6672:BC024978	UTSW	7	27204064	intron	probably benign
R7190:BC024978	UTSW	7	27201123	missense	probably damaging	1.00
R7191:BC024978	UTSW	7	27201123	missense	probably damaging	1.00
R7299:BC024978	UTSW	7	27201123	missense	probably damaging	1.00
R7300:BC024978	UTSW	7	27201123	missense	probably damaging	1.00
R8716:BC024978	UTSW	7	27197206	missense	probably damaging	0.96
R8780:BC024978	UTSW	7	27201078	missense	probably benign	0.01
R8952:BC024978	UTSW	7	27200600	missense	probably damaging	1.00
X0003:BC024978	UTSW	7	27202491	missense	probably benign	0.07
X0024:BC024978	UTSW	7	27201091	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCTAAGCCCTTTTGAAATGATTCCCAC -3'
(R):5'- GGCCAGTACCTTCAGTGATACAATGTG -3'

Sequencing Primer
(F):5'- AACTGGCCCAGGAGACTTTG -3'
(R):5'- CCTTCAGTGATACAATGTGAATGGG -3'

Posted On

2013-07-30