Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4142001:Gm21738'

486994

Institutional Source

Beutler Lab

Gene Symbol

Gm21738

Ensembl Gene

ENSMUSG00000095280

Gene Name

predicted gene, 21738

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

PIT4142001 (G1)

Quality Score

56.0072

Status

Validated

Chromosome

Chromosomal Location

19415857-19418930 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 19417330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 66 (S66L)

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: S66L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000137127
Gene: ENSMUSG00000095280
AA Change: S66L

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

92% (105/114)

Allele List at MGI

Other mutations in this stock

Total: 117 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530032D15Rik	G	A	1: 85,099,620	A75V	probably benign	Het
Abcg5	T	G	17: 84,673,594	Y107S	possibly damaging	Het
Abhd8	T	C	8: 71,461,855	E43G	probably damaging	Het
Ap1b1	T	G	11: 5,040,360	L872W	probably damaging	Het
Arid1b	T	A	17: 5,339,243	M1688K	probably damaging	Het
AW822073	G	C	10: 58,223,456	P492R	probably damaging	Het
AW822073	A	G	10: 58,223,454	C493R	probably benign	Het
AW822073	C	T	10: 58,224,882	E17K	possibly damaging	Het
AW822073	G	A	10: 58,224,314		probably benign	Het
Brca1	T	C	11: 101,522,422		probably benign	Het
C130026I21Rik	A	C	1: 85,245,674		probably benign	Het
C4b	C	T	17: 34,733,701	V1151I	probably benign	Het
Card6	T	A	15: 5,098,631	Q1094H	unknown	Het
Cd22	C	A	7: 30,877,799	V28F	possibly damaging	Het
Cdc42bpa	A	T	1: 180,031,560	N109I	probably damaging	Het
Ces2b	T	C	8: 104,836,810	Y390H	probably damaging	Het
Clca4a	T	C	3: 144,968,311	Y221C	probably damaging	Het
Cntnap5a	G	T	1: 115,684,956		probably benign	Het
Cyp4a10	C	A	4: 115,524,875	H251Q	probably damaging	Het
Dcc	A	T	18: 71,384,226		probably null	Het
Dnaaf5	A	G	5: 139,185,518	K812E	possibly damaging	Het
Dnajc13	T	C	9: 104,238,473	T46A	probably damaging	Het
Duxf3	C	A	10: 58,230,988	R563M	probably damaging	Het
Duxf3	A	C	10: 58,231,676	S27A	probably benign	Het
Duxf3	C	A	10: 58,231,168	C503F	probably damaging	Het
Eps8l1	G	A	7: 4,471,415	S295N	probably benign	Het
Etfdh	C	T	3: 79,609,867	S345N	probably damaging	Het
Fat3	A	G	9: 15,992,118		probably null	Het
G530012D18Rik	T	G	1: 85,577,204		probably benign	Het
Gabra4	T	C	5: 71,571,763	N558S	probably damaging	Het
Gm10471	A	T	5: 26,086,487	F107Y	probably benign	Het
Gm10471	C	G	5: 26,089,095	W28C	probably damaging	Het
Gm10718	A	T	9: 3,024,417	T134S	probably benign	Het
Gm10722	T	C	9: 3,001,350	L142S	probably benign	Het
Gm10800	A	C	2: 98,666,548	F220C	probably benign	Het
Gm10800	C	A	2: 98,666,905	V123F	probably benign	Het
Gm10800	T	C	2: 98,666,818	R152G	probably benign	Het
Gm10800	CAAGAAAACTGAAAATCA	C	2: 98,667,016		probably null	Het
Gm10801	A	G	2: 98,662,303	R23G	probably benign	Het
Gm11168	C	T	9: 3,004,605	P49S	probably benign	Het
Gm21663	C	T	5: 25,938,769	R185H	probably benign	Het
Gm4064	T	A	Y: 2,787,132	N228Y	probably benign	Het
Gm7682	A	C	5: 94,446,784	K168Q	probably benign	Het
Gpr107	T	A	2: 31,167,071	D58E	probably benign	Het
Gstm7	AAC	A	3: 107,931,483		probably null	Het
Hc	C	T	2: 35,031,821		probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,266,278		probably benign	Het
Hjurp	A	C	1: 88,266,046	V380G	probably damaging	Het
Hjurp	A	G	1: 88,266,561		probably benign	Het
Hjurp	T	C	1: 88,266,616	E190G	probably benign	Het
Hnrnpa2b1	A	T	6: 51,464,109	M327K	probably benign	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Het
Hoxa13	G	C	6: 52,260,648		probably benign	Het
Ifi206	A	G	1: 173,481,164	V422A	probably benign	Het
Igf2bp3	A	G	6: 49,117,383	V151A	probably damaging	Het
Ivl	TTGC	T	3: 92,572,301		probably benign	Het
Kndc1	TC	T	7: 139,923,776		probably null	Het
Lig1	GC	G	7: 13,305,924		probably null	Het
Lrit1	A	G	14: 37,062,041	Y442C	probably damaging	Het
Map3k21	C	A	8: 125,937,308	P536H	probably damaging	Het
March10	T	A	11: 105,390,520	Y313F	probably benign	Het
Mcm5	A	G	8: 75,127,236	H706R	probably benign	Het
Mlycd	T	G	8: 119,410,460	I473S	probably damaging	Het
Muc4	C	A	16: 32,754,529	H1468N	probably benign	Het
Muc4	C	G	16: 32,755,676		probably benign	Het
Muc4	T	A	16: 32,755,684		probably benign	Het
Myo5c	T	C	9: 75,283,948	V1088A	probably benign	Het
Nadk2	TG	T	15: 9,100,143		probably null	Het
Ndufs1	A	G	1: 63,159,748		probably benign	Het
Olfr732	A	G	14: 50,281,327	*309Q	probably null	Het
Pak2	A	T	16: 32,023,112	Y443N	probably damaging	Het
Pik3r6	T	C	11: 68,527,105	I73T	probably damaging	Het
Pla2g4c	A	G	7: 13,343,391	E286G	probably benign	Het
Plekhn1	G	A	4: 156,224,940	R196*	probably null	Het
Prdm10	T	A	9: 31,325,767	D145E	probably benign	Het
Ptgis	T	C	2: 167,206,830	Y422C	probably damaging	Het
Ralgapb	A	G	2: 158,430,422	E132G	probably benign	Het
Rasgrf1	G	A	9: 89,915,573	R168H	possibly damaging	Het
Rpl5	T	C	5: 107,907,183		probably benign	Het
Ryr2	T	C	13: 11,707,796	K2603E	probably damaging	Het
Sap130	T	C	18: 31,667,011		probably null	Het
Scn5a	C	A	9: 119,486,258	D1794Y	probably damaging	Het
Sec31a	A	T	5: 100,407,275	S29T	probably damaging	Het
Selplg	T	G	5: 113,819,628	K206Q	probably benign	Het
Sfmbt1	A	T	14: 30,816,757		probably null	Het
Sirpb1a	A	T	3: 15,411,198	F180I	probably benign	Het
Slc44a4	A	G	17: 34,921,275	I67V	probably damaging	Het
Sp110	T	C	1: 85,586,254	R261G	probably benign	Het
Sp110	C	T	1: 85,586,250	R262Q	probably benign	Het
Sp140	G	C	1: 85,610,882	K113N	probably benign	Het
Sp140	A	G	1: 85,643,221	S461G	probably benign	Het
Sp140	T	A	1: 85,601,172	Y5N	probably benign	Het
Stab2	A	T	10: 86,867,175	S1848R	possibly damaging	Het
Stat6	T	C	10: 127,658,230	V642A	possibly damaging	Het
Tfam	T	C	10: 71,234,983	K63R	possibly damaging	Het
Trim2	T	C	3: 84,190,857	N379S	probably benign	Het
Trp63	C	T	16: 25,865,263	T300I	probably damaging	Het
Tymp	C	A	15: 89,376,345	W90L	probably damaging	Het
Ubr5	A	G	15: 38,041,909	S148P		Het
Ugt1a10	TTCA	T	1: 88,216,158		probably benign	Het
Usp47	T	C	7: 112,104,341		probably benign	Het
Uvssa	C	T	5: 33,392,084	A363V	probably benign	Het
Vldlr	T	A	19: 27,234,869	D94E	probably benign	Het
Vmn1r3	C	T	4: 3,184,774	V178I	probably benign	Het
Vmn1r3	C	T	4: 3,184,691	M205I	probably damaging	Het
Vmn1r67	T	A	7: 10,446,950	M47K	probably benign	Het
Vmn1r87	A	T	7: 13,132,185	H58Q	probably benign	Het
Vmn1r89	A	G	7: 13,219,588	T84A	probably benign	Het
Vmn2r109	T	C	17: 20,554,577		probably null	Het
Xirp2	T	C	2: 67,519,362		probably benign	Het
Zbtb2	A	G	10: 4,369,493	S178P	probably benign	Het
Zfp534	C	T	4: 147,675,574	E213K	probably benign	Het
Zfp534	C	A	4: 147,678,313	D21Y	probably benign	Het
Zfp804b	C	T	5: 6,769,422	V1214I	probably damaging	Het
Zfp82	G	T	7: 30,057,276	T63K	probably damaging	Het
Zfp986	C	T	4: 145,898,943	R58C	probably benign	Het
Zfp992	C	T	4: 146,466,112	P97S	probably benign	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
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
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

PCR Primer
(F):5'- CCTGGAATATGGCGAGAAAACTGAAA -3'
(R):5'- TCGCCATGTTCGAGGTCCTAC -3'

Sequencing Primer
(F):5'- TATGGCGAGAAAACTGAAAATCAC -3'
(R):5'- CAAGTCCTCGAGTGGATGTTTCTC -3'

Posted On

2017-09-21