Mutagenetix > Incidental Mutation

Incidental Mutation 'R1589:Gm28042'

177691

Institutional Source

Beutler Lab

Gene Symbol

Gm28042

Ensembl Gene

ENSMUSG00000033852

Gene Name

predicted gene, 28042

Synonyms

MMRRC Submission

039626-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.395) question?

Stock #

R1589 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120027493-120043033 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 120041406 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 946 (T946A)

Ref Sequence

ENSEMBL: ENSMUSP00000115498 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000126150
AA Change: T723A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488
AA Change: T723A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129685
AA Change: T946A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: T946A

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: ENSMUST00000134380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143794

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153571

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

Predicted Effect

silent
Transcript: ENSMUST00000156805

SMART Domains

Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852

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

Meta Mutation Damage Score

0.2980

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.8%

Validation Efficiency

97% (89/92)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	A	G	3: 6,620,441		probably benign	Het
Aadacl2	C	T	3: 60,010,576	T82I	probably benign	Het
Acadl	T	C	1: 66,853,223	N147S	probably benign	Het
Actr3	A	T	1: 125,408,563	M79K	probably damaging	Het
Agbl3	A	G	6: 34,857,517	S874G	possibly damaging	Het
Aoah	A	T	13: 21,002,948	T472S	probably damaging	Het
Asb16	A	T	11: 102,268,995	D58V	probably damaging	Het
B4galt1	T	C	4: 40,823,575	D172G	probably benign	Het
Bax	T	C	7: 45,465,247	N55S	possibly damaging	Het
Bdkrb2	A	G	12: 105,591,859	N120D	possibly damaging	Het
Bicdl1	T	C	5: 115,651,266		probably benign	Het
Cand1	A	G	10: 119,213,566	L425P	probably damaging	Het
Caskin1	G	A	17: 24,505,478		probably null	Het
Cd248	C	T	19: 5,069,932	P603S	probably benign	Het
Cep95	G	T	11: 106,800,104	R143L	probably benign	Het
Clptm1l	G	T	13: 73,614,673		probably null	Het
Cntnap5a	T	C	1: 116,060,200	F154L	possibly damaging	Het
Cyld	A	T	8: 88,709,990	I303F	possibly damaging	Het
Dock2	A	G	11: 34,706,461	S370P	probably damaging	Het
Enah	G	T	1: 181,922,293	T327K	probably damaging	Het
Farp2	A	T	1: 93,579,860	S427C	probably damaging	Het
Fbxw11	C	T	11: 32,733,612	T301M	probably damaging	Het
Foxc2	A	T	8: 121,117,176	T188S	probably benign	Het
Fzd2	A	G	11: 102,606,328	T533A	probably benign	Het
Glb1l2	G	T	9: 26,769,038	S248*	probably null	Het
Glul	A	T	1: 153,905,538		probably benign	Het
Golga3	T	A	5: 110,181,783	D2E	probably damaging	Het
Grm1	A	T	10: 10,719,967	F639Y	probably benign	Het
Gzmn	A	G	14: 56,165,911	L247P	probably benign	Het
Hgf	T	G	5: 16,613,785	I525R	probably damaging	Het
Hnrnpul2	T	A	19: 8,831,332	D719E	probably benign	Het
Itga10	C	T	3: 96,651,738		probably benign	Het
Itga9	T	C	9: 118,607,117		probably null	Het
Itgb1	T	A	8: 128,705,458	C16S	probably damaging	Het
Itgb1	G	T	8: 128,705,459	C16F	possibly damaging	Het
Kat14	A	G	2: 144,394,100	I251V	probably benign	Het
Kdsr	A	T	1: 106,734,541		probably null	Het
Kif12	T	A	4: 63,166,500	E527V	probably benign	Het
Larp1b	T	C	3: 41,033,474	S44P	probably damaging	Het
Lonp2	T	C	8: 86,673,072		probably benign	Het
Lrp1	C	T	10: 127,605,606	S216N	probably benign	Het
Lrrc19	T	C	4: 94,640,950	S32G	probably benign	Het
Mdm2	G	A	10: 117,690,529	T335M	probably benign	Het
Mettl25	A	G	10: 105,779,632	Y504H	probably damaging	Het
Mill1	T	C	7: 18,245,647	I13T	probably benign	Het
Mmachc	T	A	4: 116,703,524	Q258L	probably benign	Het
Mpdz	T	A	4: 81,421,176	I5L	probably benign	Het
Mrps2	C	T	2: 28,469,488	A119V	probably benign	Het
Mtmr11	A	G	3: 96,168,113	T370A	probably benign	Het
Nmi	T	C	2: 51,958,977	I34V	possibly damaging	Het
Obscn	A	T	11: 59,036,075	M5538K	possibly damaging	Het
Ogdhl	T	C	14: 32,325,865	I24T	probably benign	Het
Olfr1477	C	T	19: 13,502,757	T138M	probably benign	Het
Olfr675	A	G	7: 105,024,560	V140A	probably benign	Het
Olfr703	A	G	7: 106,845,196	Y195C	possibly damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Omp	G	T	7: 98,145,359	D20E	probably benign	Het
Otog	A	G	7: 46,283,908	H1291R	probably benign	Het
Pgbd1	A	G	13: 21,423,292	L244P	probably damaging	Het
Ranbp2	A	G	10: 58,463,986	I481V	probably benign	Het
Rbp3	A	T	14: 33,955,792	I566F	probably damaging	Het
Rsph4a	A	G	10: 33,905,529	D125G	probably benign	Het
Scn11a	A	G	9: 119,769,807	V1219A	probably damaging	Het
Serpine3	G	A	14: 62,674,381	G264D	probably benign	Het
Slc4a10	T	C	2: 62,257,462	F400L	probably damaging	Het
Slco1a4	C	T	6: 141,845,447	V8I	probably benign	Het
Soga1	A	T	2: 157,027,637	M1026K	probably benign	Het
Spen	T	C	4: 141,488,024	D499G	unknown	Het
Stk32c	A	G	7: 139,119,015		probably null	Het
Tars	A	G	15: 11,388,175	V485A	probably benign	Het
Tcerg1l	A	G	7: 138,361,767	L258P	probably damaging	Het
Tmc2	A	T	2: 130,247,960	I622F	probably damaging	Het
Tmem183a	A	T	1: 134,354,706	N220K	probably damaging	Het
Tnni3	T	C	7: 4,520,526	D146G	probably damaging	Het
Trappc11	G	T	8: 47,501,680	D908E	probably damaging	Het
Trappc8	A	G	18: 20,863,551	Y436H	probably damaging	Het
Ttc41	G	A	10: 86,776,390	V1176I	probably benign	Het
Ube2b	A	G	11: 51,997,872	V24A	probably benign	Het
Usp30	T	C	5: 114,112,961	C233R	probably damaging	Het
Vmn1r87	T	A	7: 13,131,776	T195S	possibly damaging	Het
Vmn2r24	T	C	6: 123,806,520		probably benign	Het
Vmn2r81	C	A	10: 79,293,024	T583N	probably damaging	Het
Vwa8	C	T	14: 78,908,230	R116C	probably damaging	Het
Wdr1	C	A	5: 38,529,972	V239L	probably benign	Het
Wdr17	C	T	8: 54,703,907		probably benign	Het
Zfhx4	A	C	3: 5,241,729	D5A	probably damaging	Het
Zfyve27	T	C	19: 42,171,745		probably null	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
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
R2275:Gm28042	UTSW	2	120036829	missense	probably damaging	1.00
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'- AGGAGTGCCATCTGTTCTGTGACC -3'
(R):5'- GCTGTGCCTGGACATCAGAGTTTC -3'

Sequencing Primer
(F):5'- TTCTGTGACCCAGCCCAG -3'
(R):5'- GGACATCAGAGTTTCCAGAGTCTC -3'

Posted On

2014-04-24