Mutagenetix > Incidental Mutation

Incidental Mutation 'R2275:Gm28042'

242705

Institutional Source

Beutler Lab

Gene Symbol

Gm28042

Ensembl Gene

ENSMUSG00000033852

Gene Name

predicted gene, 28042

Synonyms

MMRRC Submission

040274-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.698) question?

Stock #

R2275 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120027493-120043033 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 120036829 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Proline at position 465 (Q465P)

Ref Sequence

ENSEMBL: ENSMUSP00000117535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044675] [ENSMUST00000126150] [ENSMUST00000129685] [ENSMUST00000156805] [ENSMUST00000162393]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000044675

SMART Domains

Protein: ENSMUSP00000041220
Gene: ENSMUSG00000098789

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	307	4.31e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125805

SMART Domains

Protein: ENSMUSP00000122869
Gene: ENSMUSG00000033852

Domain	Start	End	E-Value	Type
Pfam:Cupin_8	2	62	2.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126150
AA Change: Q242P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488
AA Change: Q242P

Domain	Start	End	E-Value	Type
C2	19	119	1.79e-17	SMART
PLAc	233	789	1.99e-10	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000129685
AA Change: Q465P

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: Q465P

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	308	1.65e-4	SMART
C2	242	342	1.79e-17	SMART
PLAc	456	1012	1.99e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143794

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153571

Predicted Effect

probably damaging
Transcript: ENSMUST00000156805
AA Change: Q465P

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

SMART Domains

Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
AA Change: Q465P

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	308	1.65e-4	SMART
C2	242	342	1.79e-17	SMART
PLAc	456	892	8.56e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162393

SMART Domains

Protein: ENSMUSP00000125329
Gene: ENSMUSG00000033852

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	242	4.42e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156159

SMART Domains

Protein: ENSMUSP00000115974
Gene: ENSMUSG00000074899

Domain	Start	End	E-Value	Type
SPEC	60	160	2.54e-6	SMART
SPEC	166	266	1.32e-13	SMART
SPEC	272	372	4.41e-15	SMART
SPEC	378	477	1.56e-15	SMART
SPEC	483	583	1.11e-11	SMART
SPEC	589	689	8.47e-26	SMART
SPEC	695	795	5.56e-12	SMART
SPEC	801	902	7.01e-9	SMART
SPEC	908	1032	4.44e-1	SMART
SPEC	1038	1138	3.73e-13	SMART
Pfam:Spectrin	1141	1206	2.2e-6	PFAM

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This locus represents naturally-occurring readthrough transcription between the neighboring Jmjd7 (jumonji domain containing 7) and Pla2g4b (phospholipase A2, group IVB (cytosolic)) genes on chromosome 2. The readthrough transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is unlikely to produce a protein product. [provided by RefSeq, Oct 2013]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013F07Rik	A	G	3: 108,542,503	N33D	possibly damaging	Het
2300003K06Rik	A	T	11: 99,837,841	C59S	possibly damaging	Het
Abca5	A	T	11: 110,275,281	N1556K	possibly damaging	Het
Ackr1	T	C	1: 173,332,485	N156D	probably benign	Het
Aco2	C	T	15: 81,895,264	R57C	probably benign	Het
Adamtsl3	A	T	7: 82,606,558	S1593C	probably benign	Het
Adgrb2	G	A	4: 130,006,854	G333D	probably damaging	Het
Arhgef7	T	A	8: 11,815,010	F374Y	possibly damaging	Het
Armc4	C	A	18: 7,223,676	G456W	probably benign	Het
Atxn7	T	A	14: 14,013,268	M62K	possibly damaging	Het
C87436	G	A	6: 86,445,600	R52H	probably damaging	Het
Cacna1g	T	A	11: 94,415,936	E1842V	probably damaging	Het
Cdh4	T	C	2: 179,890,847	S701P	probably damaging	Het
Cdr2	A	T	7: 120,958,509	H264Q	possibly damaging	Het
Cecr2	C	T	6: 120,756,741	S563L	probably benign	Het
Col12a1	A	T	9: 79,635,427	V2352E	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Csad	G	T	15: 102,187,122	R167S	probably damaging	Het
Dnlz	A	T	2: 26,351,471	C82S	probably damaging	Het
Ehmt2	T	A	17: 34,910,715	N951K	possibly damaging	Het
Emilin1	C	T	5: 30,917,738	P441L	possibly damaging	Het
Enpp2	A	C	15: 54,897,794	Y221D	probably damaging	Het
Exoc3l	A	T	8: 105,290,447		probably null	Het
F11	T	C	8: 45,252,147	D119G	possibly damaging	Het
Faiml	T	C	9: 99,229,559	Y149C	probably benign	Het
Fn1	C	T	1: 71,613,943	G1296R	probably null	Het
Glg1	A	T	8: 111,168,721	Y819*	probably null	Het
Gm11568	A	G	11: 99,858,244	S92G	unknown	Het
Gpatch1	A	T	7: 35,288,678	S678T	probably benign	Het
Gpr158	A	T	2: 21,826,863	M925L	probably benign	Het
Hecw1	T	C	13: 14,346,068	T195A	probably benign	Het
Hoxd1	A	G	2: 74,764,157	K252R	probably damaging	Het
Iqck	G	A	7: 118,899,657	D173N	possibly damaging	Het
Kcnh1	T	G	1: 192,337,521	V358G	probably damaging	Het
Kifap3	T	A	1: 163,868,758	V652D	possibly damaging	Het
Knl1	C	A	2: 119,072,281	Q1488K	probably damaging	Het
Map4k1	T	A	7: 29,001,957	H729Q	probably damaging	Het
March1	T	A	8: 66,387,499	N311K	probably benign	Het
Mypn	A	G	10: 63,131,069	F943L	probably damaging	Het
Nkpd1	A	G	7: 19,523,897	I534V	probably benign	Het
Nrarp	T	C	2: 25,181,409	V100A	possibly damaging	Het
Nt5c1a	T	C	4: 123,216,080	F324S	probably damaging	Het
Ntrk2	T	A	13: 58,861,351	Y319N	probably damaging	Het
Olfr1170	A	G	2: 88,224,823	F70L	probably benign	Het
Parg	A	G	14: 32,295,238	D384G	probably damaging	Het
Pde7b	T	A	10: 20,400,419	*460L	probably null	Het
Pigr	G	T	1: 130,846,470	V396L	probably benign	Het
Pkhd1	A	G	1: 20,200,849	I3160T	possibly damaging	Het
Ppl	T	C	16: 5,094,552	S722G	probably benign	Het
Ppp1r26	A	G	2: 28,452,701	E781G	possibly damaging	Het
Rptor	T	A	11: 119,756,322	C246*	probably null	Het
Rusc2	G	A	4: 43,416,260	R522H	probably damaging	Het
Senp7	T	C	16: 56,184,783	S927P	probably damaging	Het
Serpinb6d	A	T	13: 33,671,428	M362L	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Slc12a3	T	A	8: 94,333,287	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,466,423	S101A	probably benign	Het
Slc4a8	A	G	15: 100,807,402	M830V	probably benign	Het
Slco4a1	T	C	2: 180,464,736	L237P	possibly damaging	Het
Sned1	T	A	1: 93,281,642		probably null	Het
Tia1	A	G	6: 86,427,677	N298S	probably benign	Het
Tsr1	A	T	11: 74,904,827		probably null	Het
Ttc6	G	A	12: 57,702,298	V1339I	probably benign	Het
Tyrp1	A	T	4: 80,837,534	E180V	probably damaging	Het
Ubr3	T	C	2: 70,016,341	V1636A	probably benign	Het
Usp1	T	C	4: 98,929,842	L139P	probably damaging	Het
Vmn1r228	A	G	17: 20,776,545	L237P	probably damaging	Het
Vmn1r232	A	G	17: 20,914,203	L45P	probably benign	Het
Vmn2r2	T	C	3: 64,116,509	R884G	probably benign	Het
Vmn2r60	T	A	7: 42,136,827	Y351*	probably null	Het
Zbtb7a	G	A	10: 81,144,997	V342I	possibly damaging	Het
Zdhhc11	C	A	13: 73,973,752	N127K	probably damaging	Het

Other mutations in Gm28042

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Gm28042	APN	2	120030356	missense	probably damaging	1.00
IGL01148:Gm28042	APN	2	120039038	missense	possibly damaging	0.74
IGL02005:Gm28042	APN	2	120034634	missense	possibly damaging	0.95
IGL02237:Gm28042	APN	2	120039899	missense	possibly damaging	0.61
IGL02539:Gm28042	APN	2	120035221	missense	probably damaging	1.00
IGL02747:Gm28042	APN	2	120031394	missense	probably damaging	1.00
IGL02825:Gm28042	APN	2	120031644	missense	probably damaging	0.99
IGL02998:Gm28042	APN	2	120040154	missense	possibly damaging	0.70
IGL03057:Gm28042	APN	2	120032156	missense	probably damaging	1.00
IGL03084:Gm28042	APN	2	120040505	missense	probably benign	0.08
IGL03160:Gm28042	APN	2	120035828	missense	possibly damaging	0.94
PIT4520001:Gm28042	UTSW	2	120039667	nonsense	probably null
R0147:Gm28042	UTSW	2	120036463	missense	probably benign	0.00
R0270:Gm28042	UTSW	2	120041592	missense	probably benign	0.06
R0315:Gm28042	UTSW	2	120039057	missense	probably damaging	1.00
R1421:Gm28042	UTSW	2	120036463	missense	probably benign	0.00
R1589:Gm28042	UTSW	2	120041406	missense	probably benign	0.05
R1599:Gm28042	UTSW	2	120036463	missense	probably benign	0.00
R1656:Gm28042	UTSW	2	120038889	missense	probably damaging	1.00
R1718:Gm28042	UTSW	2	120036391	missense	possibly damaging	0.78
R1969:Gm28042	UTSW	2	120041615	makesense	probably null
R2164:Gm28042	UTSW	2	120036748	missense	probably benign	0.01
R3976:Gm28042	UTSW	2	120036756	missense	probably benign	0.11
R4483:Gm28042	UTSW	2	120035840	missense	possibly damaging	0.68
R4614:Gm28042	UTSW	2	120041158	missense	probably damaging	0.99
R4802:Gm28042	UTSW	2	120042054	utr 3 prime	probably benign
R4976:Gm28042	UTSW	2	120034643	missense	probably damaging	1.00
R5119:Gm28042	UTSW	2	120034643	missense	probably damaging	1.00
R5177:Gm28042	UTSW	2	120041601	splice site	probably null
R5340:Gm28042	UTSW	2	120041448	missense	probably benign
R5861:Gm28042	UTSW	2	120034635	missense	probably damaging	1.00
R6641:Gm28042	UTSW	2	120039683	missense	probably damaging	1.00
R7187:Gm28042	UTSW	2	120039695	missense	probably damaging	1.00
R7488:Gm28042	UTSW	2	120039957	missense	probably benign	0.00
R7699:Gm28042	UTSW	2	120039716	missense	possibly damaging	0.81
R7700:Gm28042	UTSW	2	120039716	missense	possibly damaging	0.81
R8432:Gm28042	UTSW	2	120038596	missense	probably damaging	1.00
R9120:Gm28042	UTSW	2	120038981	missense	probably damaging	0.96
R9265:Gm28042	UTSW	2	120041224	missense	probably damaging	1.00
R9803:Gm28042	UTSW	2	120038503	missense	possibly damaging	0.88
X0019:Gm28042	UTSW	2	120039658	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCTTGCCACAGGGAGTTAG -3'
(R):5'- AGTGGCTCCTGGAAACCATG -3'

Sequencing Primer
(F):5'- CCACAGGGAGTTAGTTGGTG -3'
(R):5'- TGGCTCCTGGAAACCATGAGTAC -3'

Posted On

2014-10-16