Mutagenetix > Incidental Mutation

Incidental Mutation 'R1718:Gm28042'

191182

Institutional Source

Beutler Lab

Gene Symbol

Gm28042

Ensembl Gene

ENSMUSG00000033852

Gene Name

predicted gene, 28042

Synonyms

MMRRC Submission

039751-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.497) question?

Stock #

R1718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120027493-120043033 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120036391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 172 (S172T)

Ref Sequence

ENSEMBL: ENSMUSP00000118458 (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

possibly damaging
Transcript: ENSMUST00000126150
AA Change: S172T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488
AA Change: S172T

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: S395T

PolyPhen 2 Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: S395T

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 benign
Transcript: ENSMUST00000156805
AA Change: S395T

PolyPhen 2 Score 0.089 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
AA Change: S395T

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

0.0983

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.6%
20x: 93.5%

Validation Efficiency

100% (69/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	G	T	13: 77,245,370		probably benign	Het
Acot3	T	G	12: 84,053,943		probably null	Het
Acox1	A	T	11: 116,174,682	C523*	probably null	Het
Adamts19	G	A	18: 58,972,825	C764Y	probably damaging	Het
Agrn	GCTCT	GCTCTCT	4: 156,166,519		probably null	Het
Apob	A	G	12: 8,016,087	K4319R	probably benign	Het
AU016765	A	C	17: 64,555,438		noncoding transcript	Het
Bpifb1	T	A	2: 154,213,983		probably null	Het
Btn2a2	A	G	13: 23,481,936	V242A	probably benign	Het
Camta1	A	G	4: 151,084,024	S1281P	probably benign	Het
Ccdc116	T	C	16: 17,141,908	K306E	probably benign	Het
Cemip	A	G	7: 83,935,658	V1350A	probably benign	Het
Clip2	A	T	5: 134,502,929	L674*	probably null	Het
Cyp2d12	T	A	15: 82,558,050	D244E	probably benign	Het
Cyp4x1	A	G	4: 115,111,670	V379A	possibly damaging	Het
Dnah9	T	A	11: 66,168,079	H130L	possibly damaging	Het
Enpp7	A	G	11: 118,990,983	Y318C	probably damaging	Het
Fras1	A	T	5: 96,554,889		probably null	Het
Glra3	G	T	8: 55,940,907	A18S	probably benign	Het
Gm7808	T	A	9: 19,928,003		probably benign	Het
Gm8909	A	G	17: 36,161,784		probably benign	Het
Gpr61	C	T	3: 108,150,380	V322M	possibly damaging	Het
Hapln3	A	G	7: 79,123,450	V15A	unknown	Het
Ip6k1	G	A	9: 108,040,996	E77K	possibly damaging	Het
Klk1b4	A	G	7: 44,209,672	Y38C	probably damaging	Het
Lrrfip1	A	G	1: 91,115,555	K561E	probably damaging	Het
Map3k1	A	G	13: 111,755,419	C1101R	probably benign	Het
Mcoln2	A	G	3: 146,190,474		probably benign	Het
Mfsd2b	G	A	12: 4,869,037	T73I	probably damaging	Het
Mfsd4b5	C	T	10: 39,975,203	V19I	probably benign	Het
Mgme1	T	A	2: 144,272,318	D113E	probably benign	Het
Mki67	A	G	7: 135,695,494	S2604P	probably damaging	Het
Mob3c	A	G	4: 115,831,644	I125V	probably benign	Het
Mrps9	G	A	1: 42,903,399	R339H	probably damaging	Het
Ndst1	T	C	18: 60,707,803	D269G	probably damaging	Het
Nedd9	T	C	13: 41,338,926	N30S	probably damaging	Het
Notch4	G	A	17: 34,576,763		probably benign	Het
Olfr1095	A	T	2: 86,851,187	N170K	probably benign	Het
Olfr250	A	G	9: 38,367,594	D6G	probably benign	Het
Olfr877	G	A	9: 37,855,453	V212I	probably benign	Het
Olfr995	T	C	2: 85,438,805	M118V	probably benign	Het
Papss1	C	A	3: 131,619,185	R447S	probably damaging	Het
Pla2g4a	C	T	1: 149,871,523		probably benign	Het
Rab11fip2	A	G	19: 59,935,649	F266L	probably damaging	Het
Ralgapb	T	A	2: 158,443,280	Y554*	probably null	Het
Rem2	T	C	14: 54,479,150	V240A	probably damaging	Het
Retsat	T	C	6: 72,602,671	V143A	probably benign	Het
Rnf141	G	T	7: 110,821,273	Q175K	probably damaging	Het
Rtcb	C	A	10: 85,942,017	G431V	probably damaging	Het
Slc7a6os	A	G	8: 106,204,339	W222R	probably damaging	Het
Smarcc2	T	C	10: 128,468,998		probably benign	Het
Smchd1	A	T	17: 71,448,833	Y218N	possibly damaging	Het
Sp110	G	A	1: 85,594,385	H66Y	probably benign	Het
Speg	G	A	1: 75,417,863	E1739K	probably benign	Het
Speg	A	G	1: 75,421,744	Q1945R	possibly damaging	Het
Sprtn	T	C	8: 124,898,357	V67A	probably damaging	Het
Tktl2	G	A	8: 66,512,347	V186M	probably damaging	Het
Tnks1bp1	G	T	2: 85,071,738	E997D	probably benign	Het
Tti1	A	T	2: 158,008,224	V365E	probably benign	Het
Tulp4	A	G	17: 6,222,440	I590V	probably benign	Het
Vmn2r61	A	G	7: 42,300,697	D847G	probably benign	Het
Zfp184	A	G	13: 21,959,272	T383A	possibly damaging	Het
Zik1	T	A	7: 10,492,341	E33V	probably damaging	Het
Zik1	C	A	7: 10,492,342	E33*	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
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
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'- GCTTGCACGTTGAACTGAAGAGGAC -3'
(R):5'- TGACCTGACAGACAGGAGCAGTATG -3'

Sequencing Primer
(F):5'- GATCCAAAGAGTGAGTTCTGTCCTC -3'
(R):5'- GAACAGCTCAGGCTGAGAC -3'

Posted On

2014-05-14