Mutagenetix > Incidental Mutation

Incidental Mutation 'R0831:Gm21738'

77574

Institutional Source

Beutler Lab

Gene Symbol

Gm21738

Ensembl Gene

ENSMUSG00000095280

Gene Name

predicted gene, 21738

Synonyms

MMRRC Submission

039010-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R0831 (G1)

Quality Score

112

Status

Not validated

Chromosome

Chromosomal Location

19415857-19418930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 19415963 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 192 (K192R)

Ref Sequence

ENSEMBL: ENSMUSP00000137127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177817]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000177817
AA Change: K192R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000137127
Gene: ENSMUSG00000095280
AA Change: K192R

Domain	Start	End	E-Value	Type
internal_repeat_1	1	19	1.11e-9	PROSPERO
transmembrane domain	20	42	N/A	INTRINSIC
transmembrane domain	77	99	N/A	INTRINSIC
internal_repeat_1	117	135	1.11e-9	PROSPERO
transmembrane domain	152	174	N/A	INTRINSIC
low complexity region	179	195	N/A	INTRINSIC
transmembrane domain	198	220	N/A	INTRINSIC

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.0%

Validation Efficiency

95% (82/86)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1300017J02Rik	T	C	9: 103,269,779	H292R	possibly damaging	Het
2900092C05Rik	C	T	7: 12,550,596		probably benign	Het
3425401B19Rik	T	C	14: 32,662,271	N579S	probably benign	Het
A530032D15Rik	C	G	1: 85,099,505	K113N	probably benign	Het
Adck1	G	T	12: 88,368,348	M1I	probably null	Het
Adgra3	A	T	5: 49,970,802	I779N	probably damaging	Het
Adgrf2	A	G	17: 42,710,443	S497P	probably damaging	Het
Afg3l2	A	C	18: 67,421,227	F468L	probably damaging	Het
Alms1	T	A	6: 85,628,520	I2384N	probably benign	Het
Ankrd13b	A	T	11: 77,472,759	S244R	probably damaging	Het
Aox2	T	A	1: 58,339,683	H1030Q	probably benign	Het
Ap1b1	A	G	11: 5,023,092		probably benign	Het
Atxn2l	A	G	7: 126,499,160	S187P	probably damaging	Het
B4galt4	G	T	16: 38,767,979	E57D	probably benign	Het
Cad	T	C	5: 31,067,600	V949A	probably damaging	Het
Cadps2	C	T	6: 23,321,740	S1051N	possibly damaging	Het
Ccdc66	C	T	14: 27,497,356	V148I	probably benign	Het
Ccser1	C	T	6: 61,423,061	P55S	probably damaging	Het
Cds2	T	C	2: 132,285,967		probably null	Het
Cep95	A	G	11: 106,814,704	D548G	probably benign	Het
Chil3	A	G	3: 106,149,747	Y294H	probably benign	Het
Chmp5	A	G	4: 40,949,500	D39G	probably damaging	Het
Chrd	T	A	16: 20,741,309	F887I	probably damaging	Het
Col24a1	G	T	3: 145,328,759	G580V	probably damaging	Het
Col6a2	A	T	10: 76,604,105	N655K	probably damaging	Het
Ctsf	A	T	19: 4,859,840	Y416F	possibly damaging	Het
Dennd5a	A	C	7: 109,934,754	V77G	probably damaging	Het
Dna2	A	T	10: 62,959,329	K460*	probably null	Het
Dnah17	A	T	11: 118,060,271	M2842K	probably damaging	Het
Dnajc13	C	A	9: 104,172,612	G1765V	probably damaging	Het
Donson	A	C	16: 91,683,763	C243W	probably damaging	Het
Dpp8	A	T	9: 65,078,679	N817I	possibly damaging	Het
Eef1d	G	A	15: 75,896,806		probably benign	Het
Esf1	T	A	2: 140,168,359	D19V	probably damaging	Het
Gm9867	C	A	4: 140,322,488	A128S	unknown	Het
Igsf23	G	T	7: 19,941,737		probably benign	Het
Kdm7a	C	A	6: 39,166,765		probably benign	Het
Kif14	G	A	1: 136,525,871		probably benign	Het
Mroh7	T	C	4: 106,680,793	N1229D	possibly damaging	Het
Mrps11	C	A	7: 78,791,863		probably benign	Het
Mtmr2	T	A	9: 13,796,113	D248E	probably damaging	Het
Myrfl	C	A	10: 116,783,209	S748I	probably benign	Het
Nop14	T	C	5: 34,650,520	E366G	possibly damaging	Het
Olfr225	C	T	11: 59,613,654	T230I	possibly damaging	Het
Olfr273	T	G	4: 52,855,764	I250L	possibly damaging	Het
Olfr618	A	G	7: 103,598,131	I272V	probably benign	Het
Olfr873	T	A	9: 20,300,565	C123S	probably benign	Het
Olfr971	C	T	9: 39,840,283	P283L	probably damaging	Het
Phykpl	G	T	11: 51,585,539	E29*	probably null	Het
Plppr4	A	G	3: 117,331,646		probably null	Het
Prmt2	A	C	10: 76,207,807		probably benign	Het
Prodh2	T	A	7: 30,494,224	Y114*	probably null	Het
Prr23a2	C	A	9: 98,856,864	H92N	probably damaging	Het
Rasl10b	G	A	11: 83,417,839		probably null	Het
Rdx	C	A	9: 52,065,817	A122E	probably damaging	Het
Rspo3	T	G	10: 29,454,257	D236A	unknown	Het
Sdk2	A	T	11: 113,832,258	D1302E	probably damaging	Het
Sipa1	A	T	19: 5,660,354	D209E	probably damaging	Het
Sirpa	T	G	2: 129,627,936		probably benign	Het
Ska1	A	C	18: 74,197,499		probably benign	Het
Slc4a9	T	C	18: 36,535,278		probably benign	Het
Slco1b2	T	C	6: 141,685,446	V602A	probably benign	Het
Slco2a1	T	C	9: 103,082,334	V543A	probably damaging	Het
Sorcs3	A	T	19: 48,693,994	L489F	probably damaging	Het
Sorl1	T	C	9: 42,071,069		probably benign	Het
Spindoc	G	T	19: 7,374,735	N82K	probably benign	Het
Stk17b	C	A	1: 53,757,492	C372F	probably damaging	Het
Tbck	A	G	3: 132,722,291		probably benign	Het
Thoc1	C	T	18: 9,963,267	T127I	probably benign	Het
Togaram2	G	T	17: 71,716,444	R765L	probably damaging	Het
Tprg	A	G	16: 25,317,469	Y70C	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Umodl1	T	C	17: 30,996,351	Y1050H	probably damaging	Het
Vmn1r205	T	A	13: 22,592,416	D172V	probably benign	Het
Vmn1r79	A	T	7: 12,177,063	N291Y	probably damaging	Het
Vmn2r112	T	A	17: 22,614,999	N549K	probably damaging	Het
Vrk3	T	A	7: 44,764,803	L241Q	probably damaging	Het
Zc3h7a	A	G	16: 11,151,880	S386P	probably damaging	Het

Other mutations in Gm21738

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm21738	APN	14	19418885	missense	probably benign
IGL01010:Gm21738	APN	14	19417361	missense	probably benign	0.03
IGL01018:Gm21738	APN	14	19418856	missense	probably benign	0.39
IGL01865:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01869:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01873:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01877:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01878:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01879:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01880:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01882:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01883:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01884:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01885:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01886:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01888:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01891:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01892:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01893:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01894:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01895:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01896:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01898:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01899:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01900:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01901:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01902:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01903:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01904:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01905:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01906:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01908:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01909:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01910:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01911:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01912:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01913:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01914:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01915:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01916:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01917:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01918:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01919:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01922:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01923:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01924:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01925:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01926:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01932:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01940:Gm21738	APN	14	19416979	missense	probably benign	0.01
IGL01949:Gm21738	APN	14	19416979	missense	probably benign	0.01
PIT4131001:Gm21738	UTSW	14	19417330	missense	probably benign	0.00
PIT4142001:Gm21738	UTSW	14	19417330	missense	probably benign	0.00
R0831:Gm21738	UTSW	14	19415957	missense	probably benign	0.01
R0976:Gm21738	UTSW	14	19415963	missense	probably benign
R1029:Gm21738	UTSW	14	19415957	missense	probably benign	0.01
R1146:Gm21738	UTSW	14	19415963	missense	probably benign
R1231:Gm21738	UTSW	14	19415963	missense	probably benign
R1231:Gm21738	UTSW	14	19415957	missense	probably benign	0.01
R1402:Gm21738	UTSW	14	19415957	missense	probably benign	0.01
R1402:Gm21738	UTSW	14	19415963	missense	probably benign
R1638:Gm21738	UTSW	14	19418908	missense	probably benign
R1874:Gm21738	UTSW	14	19418824	missense	possibly damaging	0.64
R4392:Gm21738	UTSW	14	19417178	missense	probably benign
R4393:Gm21738	UTSW	14	19417178	missense	probably benign
R5049:Gm21738	UTSW	14	19415957	missense	probably benign	0.01
R5257:Gm21738	UTSW	14	19415942	missense	probably benign
R6756:Gm21738	UTSW	14	19418824	missense	possibly damaging	0.64
R6915:Gm21738	UTSW	14	19415933	missense	probably benign
V5622:Gm21738	UTSW	14	19417180	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-10-16