Mutagenetix > Incidental Mutation

Incidental Mutation 'R5049:Gm21738'

458162

Institutional Source

Beutler Lab

Gene Symbol

Gm21738

Ensembl Gene

ENSMUSG00000095280

Gene Name

predicted gene, 21738

Synonyms

MMRRC Submission

042639-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.897) question?

Stock #

R5049 (G1)

Quality Score

20.1

Status

Validated

Chromosome

Chromosomal Location

19415857-19418930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 19415957 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 194 (Y194F)

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: Y194F

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000137127
Gene: ENSMUSG00000095280
AA Change: Y194F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 95.8%
20x: 90.4%

Validation Efficiency

97% (89/92)

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810013L24Rik	T	A	16: 8,843,209	D183E	probably damaging	Het
4932438A13Rik	T	A	3: 37,040,506		probably benign	Het
4932438A13Rik	T	C	3: 37,041,390	M1016T	probably damaging	Het
9330182L06Rik	A	G	5: 9,428,488	T451A	probably damaging	Het
Aamp	A	G	1: 74,282,539	S76P	probably damaging	Het
Acot8	A	G	2: 164,799,690		probably benign	Het
Angptl7	A	G	4: 148,498,011	F143L	probably benign	Het
Atxn7l1	A	G	12: 33,358,687	T283A	probably benign	Het
Brd3	G	T	2: 27,450,577		probably benign	Het
C130026L21Rik	T	A	5: 111,581,836		noncoding transcript	Het
Cbr4	T	G	8: 61,495,204		probably null	Het
Ccl19	A	G	4: 42,756,268		probably null	Het
Ccl2	G	T	11: 82,036,507	C34F	probably damaging	Het
Dnah12	A	T	14: 26,735,697	T873S	probably benign	Het
Dnah2	T	C	11: 69,448,166	N3118S	probably damaging	Het
Epb41l1	C	A	2: 156,524,939	P564Q	possibly damaging	Het
Extl3	A	T	14: 65,076,032	M567K	probably benign	Het
Fam160b1	T	C	19: 57,386,305	I704T	possibly damaging	Het
Fam208b	A	T	13: 3,574,000	H1983Q	probably benign	Het
Foxf2	T	C	13: 31,627,175	S366P	probably benign	Het
Gamt	T	A	10: 80,258,954	T186S	probably benign	Het
Gcn1l1	T	A	5: 115,606,671	M1642K	probably damaging	Het
Golga1	A	T	2: 39,047,735	M115K	probably damaging	Het
Herc3	A	G	6: 58,894,539		probably null	Het
Hes2	C	A	4: 152,159,874	L39I	possibly damaging	Het
Hopx	C	A	5: 77,095,052		probably benign	Het
Idi1	C	T	13: 8,888,042	P175S	probably damaging	Het
Ifit1bl1	A	T	19: 34,594,081	C325*	probably null	Het
Ighv7-3	T	C	12: 114,153,333	I70V	probably benign	Het
Kcnq3	T	C	15: 66,285,897	T110A	probably benign	Het
Kif5a	T	C	10: 127,239,839	D451G	possibly damaging	Het
Lama3	A	G	18: 12,582,611	E1708G	probably benign	Het
Lrriq4	T	A	3: 30,650,937	D371E	probably damaging	Het
Lyst	T	A	13: 13,636,064	V773E	probably damaging	Het
Map4	T	A	9: 110,079,814	L23*	probably null	Het
Mapkbp1	G	T	2: 120,015,501		probably benign	Het
Mrpl30	A	T	1: 37,897,710	D52V	possibly damaging	Het
Olfr1122	A	T	2: 87,388,658	T318S	probably benign	Het
Olfr71	A	T	4: 43,706,259	L103Q	probably damaging	Het
Pard3b	T	A	1: 62,161,161	H286Q	probably benign	Het
Parp4	A	G	14: 56,635,731	K1144R	possibly damaging	Het
Pdcd11	C	A	19: 47,107,115	S625R	probably benign	Het
Pkhd1l1	T	C	15: 44,457,616	S22P	probably benign	Het
Prss32	A	T	17: 23,859,247	E302D	possibly damaging	Het
Prss45	A	G	9: 110,840,470	K205E	probably damaging	Het
Puf60	T	A	15: 76,070,474	I500F	probably damaging	Het
Ryr3	A	T	2: 112,640,171	I4623N	probably damaging	Het
Sh3bp5l	T	A	11: 58,338,124		probably benign	Het
Slc3a1	T	G	17: 85,032,845	Y232D	probably damaging	Het
Slc8a3	A	G	12: 81,214,132	Y608H	probably damaging	Het
Socs7	G	T	11: 97,378,643	R429L	probably benign	Het
Sorcs3	C	A	19: 48,759,951	N786K	possibly damaging	Het
Sp4	A	T	12: 118,254,472	M680K	probably benign	Het
Tas2r131	T	C	6: 132,957,577	T90A	probably damaging	Het
Tbx21	T	C	11: 97,114,710	H143R	probably benign	Het
Tg	T	A	15: 66,827,382	C833*	probably null	Het
Tmem245	A	G	4: 56,925,057	S355P	probably benign	Het
Tmem86b	G	A	7: 4,628,466	P191S	possibly damaging	Het
Tnc	A	G	4: 64,017,986	C238R	probably damaging	Het
Tnn	T	A	1: 160,140,738	E361D	probably benign	Het
Tpp2	T	C	1: 44,001,473	V298A	possibly damaging	Het
Trav7-6	A	G	14: 53,717,079	N22S	probably damaging	Het
Trim75	T	C	8: 64,982,439		probably null	Het
Trrap	T	A	5: 144,826,717	I2492N	probably damaging	Het
Ufl1	G	T	4: 25,254,773	A561E	probably benign	Het
Uqcc1	A	G	2: 155,910,421	V86A	probably damaging	Het
Vmn1r184	A	G	7: 26,267,368	I180V	possibly damaging	Het
Vmn1r185	A	G	7: 26,611,495	F195S	possibly damaging	Het
Vmn2r4	A	C	3: 64,398,598		probably null	Het
Vmn2r87	T	C	10: 130,472,429	T647A	probably damaging	Het
Vps13d	A	T	4: 145,086,766	H198Q	probably damaging	Het
Wdfy4	T	C	14: 33,152,670	T154A	possibly damaging	Het
Xirp2	A	G	2: 67,517,134	M3240V	probably benign	Het
Zfp101	T	C	17: 33,381,898	R295G	possibly damaging	Het
Zfp619	G	A	7: 39,535,514	V323I	probably benign	Het
Zfy1	A	T	Y: 726,004	I587N	possibly damaging	Het
Zswim6	C	T	13: 107,726,575		noncoding transcript	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
R0831:Gm21738	UTSW	14	19415963	missense	probably benign
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	19415957	missense	probably benign	0.01
R1231:Gm21738	UTSW	14	19415963	missense	probably benign
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
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

PCR Primer
(F):5'- ACTCCATATAGACTGGACCAGA -3'
(R):5'- ATTCCAGGTCCTACAGTGTGCAT -3'

Sequencing Primer
(F):5'- CACTTTAGGACGTGAAATATGTCGAG -3'
(R):5'- TCAAGTCGTCAAGTGGATGTATC -3'

Posted On

2017-02-17