Mutagenetix > Incidental Mutation

Incidental Mutation 'R8328:Gm13084'

644194

Institutional Source

Beutler Lab

Gene Symbol

Gm13084

Ensembl Gene

ENSMUSG00000059218

Gene Name

predicted gene 13084

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.062) question?

Stock #

R8328 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

143809245-143816093 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 143810810 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 317 (L317P)

Ref Sequence

ENSEMBL: ENSMUSP00000074557 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075045] [ENSMUST00000105769]

AlphaFold

A2A8N0

Predicted Effect

probably damaging
Transcript: ENSMUST00000075045
AA Change: L317P

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

SMART Domains

Protein: ENSMUSP00000074557
Gene: ENSMUSG00000059218
AA Change: L317P

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	222	409	9e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000105769
AA Change: L317P

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

SMART Domains

Protein: ENSMUSP00000101395
Gene: ENSMUSG00000059218
AA Change: L317P

Domain	Start	End	E-Value	Type
low complexity region	223	238	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	A	T	6: 92,890,012	M682K	probably benign	Het
Ankdd1b	T	A	13: 96,454,866	I42F	possibly damaging	Het
Ankrd6	C	T	4: 32,810,215	E489K	probably benign	Het
Arhgef28	A	T	13: 98,051,009	H259Q	possibly damaging	Het
C3	T	C	17: 57,220,973	S749G	probably benign	Het
Celsr1	A	G	15: 85,922,244	S2338P	probably benign	Het
Ces2a	A	T	8: 104,737,366	N210I	probably damaging	Het
Cuzd1	A	T	7: 131,311,616	V424D	probably damaging	Het
Cyp2j11	T	A	4: 96,348,368	H67L	probably benign	Het
Dennd5b	A	G	6: 149,020,617	S800P	probably damaging	Het
Dmrta2	G	T	4: 109,980,009	L49F	unknown	Het
Dpy19l1	T	A	9: 24,475,390	K9*	probably null	Het
Dsc2	T	C	18: 20,032,519	H843R	possibly damaging	Het
Dsg1b	T	A	18: 20,376,950	F6I	probably benign	Het
Fam214b	T	C	4: 43,034,751	T323A	probably benign	Het
Hck	C	T	2: 153,129,067	A83V	probably damaging	Het
Hdc	T	C	2: 126,601,883	E292G	probably damaging	Het
Ighv1-23	A	G	12: 114,764,496	L102P	probably damaging	Het
Kdm3b	G	A	18: 34,793,070	V88M	probably damaging	Het
Kremen2	A	G	17: 23,742,771	V254A	probably benign	Het
Lrrc8e	T	A	8: 4,235,641	I622N	probably damaging	Het
Megf8	A	G	7: 25,347,492	N1600S	probably benign	Het
Mical3	A	G	6: 120,935,177	I1907T	probably damaging	Het
Nr4a3	T	A	4: 48,051,323	Y26N	probably damaging	Het
Nrl	T	C	14: 55,520,706	E188G	probably damaging	Het
Olfr311	T	A	11: 58,841,634	D173E	probably benign	Het
Olfr464	A	G	11: 87,914,159	M249T	possibly damaging	Het
Polr1a	G	A	6: 71,920,734	E238K	probably benign	Het
Prr5	G	C	15: 84,703,186	*388S	probably null	Het
Rptor	A	G	11: 119,892,647	T1156A	probably benign	Het
Slc9c1	T	A	16: 45,577,864	I664K	probably damaging	Het
Stn1	C	A	19: 47,517,059	R152L	probably damaging	Het
Syde2	T	C	3: 146,015,741	V1121A	probably benign	Het
Vmn1r158	T	C	7: 22,790,062	T241A	probably damaging	Het
Vmn1r209	C	A	13: 22,806,473	V16L	probably benign	Het
Wdr19	A	G	5: 65,225,295	E454G	probably damaging	Het
Zan	C	T	5: 137,394,464	E4590K	unknown	Het
Zfp579	T	G	7: 4,994,867	H15P	unknown	Het
Zfp628	A	G	7: 4,919,814	N345S	probably benign	Het
Zfp944	T	A	17: 22,339,724	K181*	probably null	Het
Zscan5b	C	T	7: 6,233,947	P232S	possibly damaging	Het

Other mutations in Gm13084

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00839:Gm13084	APN	4	143812723	missense	probably benign	0.32
IGL01075:Gm13084	APN	4	143811646	missense	possibly damaging	0.47
IGL02705:Gm13084	APN	4	143810802	missense	probably damaging	1.00
IGL03011:Gm13084	APN	4	143811760	missense	possibly damaging	0.95
PIT4498001:Gm13084	UTSW	4	143812836	missense	possibly damaging	0.63
R0268:Gm13084	UTSW	4	143810768	missense	probably damaging	1.00
R0344:Gm13084	UTSW	4	143810768	missense	probably damaging	1.00
R0390:Gm13084	UTSW	4	143811699	missense	probably benign	0.09
R0597:Gm13084	UTSW	4	143812652	missense	probably damaging	0.98
R0646:Gm13084	UTSW	4	143812585	missense	possibly damaging	0.83
R0927:Gm13084	UTSW	4	143812808	missense	probably benign	0.05
R0973:Gm13084	UTSW	4	143811858	missense	probably damaging	1.00
R1851:Gm13084	UTSW	4	143812826	missense	probably benign	0.33
R1852:Gm13084	UTSW	4	143812826	missense	probably benign	0.33
R3699:Gm13084	UTSW	4	143810352	missense	probably benign	0.05
R3705:Gm13084	UTSW	4	143811775	missense	probably benign	0.06
R3845:Gm13084	UTSW	4	143811975	missense	probably damaging	0.96
R4035:Gm13084	UTSW	4	143810456	missense	probably benign	0.08
R4044:Gm13084	UTSW	4	143811600	missense	probably benign	0.34
R4439:Gm13084	UTSW	4	143811573	missense	possibly damaging	0.49
R4660:Gm13084	UTSW	4	143811865	missense	probably benign	0.19
R4770:Gm13084	UTSW	4	143811949	missense	probably damaging	0.96
R4838:Gm13084	UTSW	4	143810805	nonsense	probably null
R5534:Gm13084	UTSW	4	143812599	nonsense	probably null
R5691:Gm13084	UTSW	4	143812009	missense	probably benign	0.44
R5893:Gm13084	UTSW	4	143810468	missense	probably damaging	1.00
R6123:Gm13084	UTSW	4	143812764	missense	possibly damaging	0.89
R6285:Gm13084	UTSW	4	143816039	missense	probably damaging	1.00
R6886:Gm13084	UTSW	4	143812762	missense	probably benign	0.29
R7105:Gm13084	UTSW	4	143810771	missense	probably benign	0.04
R7135:Gm13084	UTSW	4	143810663	missense	probably damaging	1.00
R7474:Gm13084	UTSW	4	143811699	missense	probably benign	0.03
R7594:Gm13084	UTSW	4	143812716	missense	probably damaging	0.99
R7610:Gm13084	UTSW	4	143812866	missense	probably damaging	1.00
R7635:Gm13084	UTSW	4	143810417	missense	probably damaging	1.00
R7682:Gm13084	UTSW	4	143810720	missense	probably benign	0.38
R7986:Gm13084	UTSW	4	143812020	nonsense	probably null
R8222:Gm13084	UTSW	4	143810323	missense	possibly damaging	0.61
R8678:Gm13084	UTSW	4	143812006	missense	probably benign	0.21
R8887:Gm13084	UTSW	4	143812687	missense	probably damaging	0.99
R8942:Gm13084	UTSW	4	143810291	missense	probably benign	0.00
R9219:Gm13084	UTSW	4	143810733	missense	probably benign	0.02
R9291:Gm13084	UTSW	4	143812681	missense	probably benign	0.13
R9649:Gm13084	UTSW	4	143816039	missense	probably damaging	1.00
R9746:Gm13084	UTSW	4	143810316	missense	probably benign	0.24
Z1177:Gm13084	UTSW	4	143812018	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- ACATTGACTTAGGGCAGGCAG -3'
(R):5'- ACAGAAGGCAATGTCCTGGG -3'

Sequencing Primer
(F):5'- GGCATTGAAGTGAGTTTCCCCC -3'
(R):5'- GTGGGGTTTGACTTCAATGTATTGAC -3'

Posted On

2020-09-02