Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4131001:Gm21738'

523255

Institutional Source

Beutler Lab

Gene Symbol

Gm21738

Ensembl Gene

ENSMUSG00000095280

Gene Name

predicted gene, 21738

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.897) question?

Stock #

PIT4131001 (G1)

Quality Score

82.0076

Status

Not 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% (126/137)

Allele List at MGI

Other mutations in this stock

Total: 129 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010B08Rik	C	T	2: 173,719,806		probably benign	Het
A530032D15Rik	G	A	1: 85,099,620	A75V	probably benign	Het
Alpk2	G	A	18: 65,306,379	H648Y	possibly damaging	Het
Ambp	A	G	4: 63,144,265	Y246H	probably damaging	Het
Amz1	T	C	5: 140,749,333		probably null	Het
Anks6	G	A	4: 47,027,109	T703I	probably damaging	Het
Armc2	A	G	10: 41,947,887		probably benign	Het
Atp7b	T	A	8: 21,994,656	I1347F	probably damaging	Het
Atp8a1	C	T	5: 67,622,602	W1149*	probably null	Het
Auh	A	G	13: 52,841,010	I173T	probably damaging	Het
AW822073	A	G	10: 58,223,454	C493R	probably benign	Het
AW822073	G	A	10: 58,224,314		probably benign	Het
AW822073	C	T	10: 58,224,882	E17K	possibly damaging	Het
Axin2	T	C	11: 108,924,003	L239P	possibly damaging	Het
Bbs1	A	T	19: 4,899,259	F257L	possibly damaging	Het
C130026I21Rik	A	C	1: 85,245,674		probably benign	Het
Cacna2d2	C	T	9: 107,524,668	P774L	probably damaging	Het
Card6	A	G	15: 5,108,306	L22P	probably damaging	Het
Ccdc171	C	T	4: 83,661,709			Het
Cdc14a	T	A	3: 116,328,661	N219I	possibly damaging	Het
Cfap65	G	T	1: 74,928,342	N192K	probably benign	Het
Col14a1	T	C	15: 55,448,876		probably benign	Het
Col5a1	A	G	2: 28,024,653	T94A	probably benign	Het
Col6a5	T	C	9: 105,881,914	N2031S	probably damaging	Het
Col7a1	T	C	9: 108,965,921		probably benign	Het
Ctgf	T	C	10: 24,596,090	V70A	probably damaging	Het
Cyld	T	C	8: 88,746,915	S739P	probably damaging	Het
Dbr1	A	G	9: 99,584,019		probably null	Het
Dip2b	T	C	15: 100,202,352	L1267P	probably damaging	Het
Dolk	A	G	2: 30,285,574	M153T	probably benign	Het
Duxf3	A	C	10: 58,231,676	S27A	probably benign	Het
Eef1d	C	T	15: 75,903,732	R26H	probably benign	Homo
Efcab5	C	T	11: 77,137,691			Het
Epc1	T	C	18: 6,449,246	D467G	probably damaging	Het
Fancm	T	G	12: 65,105,422	M884R	probably benign	Het
Fbxo24	G	T	5: 137,621,902	H15N	probably damaging	Het
Frem1	A	G	4: 83,005,808	F305L	probably damaging	Het
Fstl5	A	G	3: 76,659,699	D550G	probably damaging	Het
Gcnt3	T	G	9: 70,034,044	K414T	possibly 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	A	G,C	9: 3,001,414		probably benign	Het
Gm10800	A	C	2: 98,666,548	F220C	probably benign	Het
Gm10800	T	C	2: 98,666,818	R152G	probably benign	Homo
Gm10800	C	A	2: 98,666,905	V123F	probably benign	Homo
Gm10801	A	G	2: 98,662,303	R23G	probably benign	Homo
Gm11168	C	T	9: 3,004,605	P49S	probably benign	Het
Gm21677	T	C	Y: 3,297,411	H235R	probably benign	Het
Gm21693	C	T	Y: 3,328,944	A241T	possibly damaging	Het
Gm4064	T	A	Y: 2,787,132	N228Y	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,266,278		probably benign	Het
Hmgcr	A	G	13: 96,659,054	Y336H	probably damaging	Het
Hoxa13	C	G	6: 52,260,647		probably benign	Homo
Hoxa13	G	C	6: 52,260,648		probably benign	Homo
Igf2bp3	A	C	6: 49,117,150		probably null	Het
Kcnb2	A	T	1: 15,312,976	K175N	possibly damaging	Het
Kdr	T	C	5: 75,941,971		probably benign	Het
Kif5c	A	G	2: 49,694,032	K160E	probably damaging	Het
Kif7	A	T	7: 79,711,069	V186E	probably damaging	Het
Krt16	T	A	11: 100,248,749	T48S	unknown	Het
Liph	T	C	16: 21,995,369	M1V	probably null	Het
Mctp2	A	G	7: 72,090,257	F795S	probably damaging	Het
Muc4	C	G	16: 32,755,676		probably benign	Homo
Muc4	T	A	16: 32,755,684		probably benign	Homo
Muc4	T	A	16: 32,755,699		probably benign	Homo
Myo15	G	T	11: 60,483,127	A1267S	probably damaging	Het
Myo15	T	C	11: 60,495,454	Y1802H	probably damaging	Het
Myo7b	G	A	18: 31,961,206	T1963I	probably benign	Het
Nadk2	TG	T	15: 9,100,143		probably null	Homo
Naip5	T	C	13: 100,219,739	R1123G	probably benign	Het
Naip5	T	C	13: 100,219,760	N1116D	probably benign	Het
Nap1l1	A	G	10: 111,486,722	D61G	probably null	Het
Napsa	A	T	7: 44,581,451	T81S	probably damaging	Het
Ngp	T	C	9: 110,422,269		probably benign	Het
Nktr	T	A	9: 121,741,621	V143E	probably damaging	Het
Obscn	A	G	11: 59,067,064		probably null	Het
Olfr1115	G	A	2: 87,252,629	A231T	probably benign	Het
Olfr1305	G	A	2: 111,873,304	L184F	probably benign	Het
Olfr266	T	C	3: 106,821,966	I198V	probably benign	Het
Olfr414	A	G	1: 174,430,824	Y132C	probably damaging	Het
Olfr597	C	T	7: 103,320,869	R153*	probably null	Het
Olfr653	G	A	7: 104,580,030	R128Q	probably damaging	Het
Paip2b	A	G	6: 83,808,841	Y136H	probably damaging	Het
Pde2a	G	T	7: 101,511,154	R845L	probably damaging	Het
Pgap2	A	G	7: 102,237,198	Y197C	possibly damaging	Het
Phf11b	A	G	14: 59,323,162		probably benign	Het
Pitpnm2	A	T	5: 124,131,115	D481E	probably benign	Het
Pxk	A	T	14: 8,152,130	H482L	probably benign	Het
Rad50	A	G	11: 53,694,899		probably null	Het
Rnf220	A	G	4: 117,277,369		probably null	Het
Selenbp1	C	T	3: 94,937,296	T88M	probably damaging	Het
Sft2d1	T	C	17: 8,391,031	I104T	possibly damaging	Het
Sik1	A	G	17: 31,851,331	S135P	probably damaging	Het
Slc16a3	T	C	11: 120,955,346	F34L	probably damaging	Het
Slc6a20b	T	C	9: 123,612,126	N85S	probably benign	Homo
Snrnp27	T	C	6: 86,682,911	R34G	unknown	Het
Sos2	T	C	12: 69,618,077	H393R	probably benign	Het
Sp110	C	T	1: 85,586,250	R262Q	probably benign	Het
Sp110	T	C	1: 85,586,254	R261G	probably benign	Het
Sp140	T	A	1: 85,601,172	Y5N	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
Ssrp1	G	A	2: 85,038,416	V40M	probably damaging	Het
Tada2a	T	C	11: 84,079,737	E202G	probably damaging	Het
Tcf20	C	A	15: 82,851,584	A1889S	probably damaging	Het
Tdrd12	A	T	7: 35,481,103	Y828*	probably null	Het
Tex45	T	A	8: 3,476,062	S72T	possibly damaging	Het
Tlr2	T	A	3: 83,838,449	D109V	probably benign	Het
Tomm40	G	A	7: 19,703,091	T17M	probably damaging	Het
Tsga10ip	T	C	19: 5,390,133	T135A	possibly damaging	Het
Tspan8	G	A	10: 115,817,610	V4M	probably damaging	Het
Ttc28	A	T	5: 110,892,853	T36S	probably benign	Het
Ugt1a6b	TTCA	T	1: 88,216,158		probably benign	Het
Ugt1a6b	G	A	1: 88,216,254	A199T	probably damaging	Het
Ugt1a6b	G	A	1: 88,218,390	R519Q	probably damaging	Het
Unc45a	A	G	7: 80,326,361	M790T	possibly damaging	Het
Vav3	T	C	3: 109,664,435		probably null	Het
Vcpkmt	G	A	12: 69,582,778	S70L	probably benign	Het
Vmn1r3	C	T	4: 3,184,691	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774	V178I	probably benign	Het
Vmn2r66	T	C	7: 84,995,093	Q703R	probably damaging	Het
Vmn2r98	G	T	17: 19,080,961	V742F	probably benign	Het
Wfdc8	A	G	2: 164,597,776	S229P	possibly damaging	Het
Xpo4	A	T	14: 57,584,611	C1083S	probably null	Het
Zbtb38	T	C	9: 96,686,316	D905G	probably damaging	Het
Zbtb8b	A	G	4: 129,427,515	*518Q	probably null	Het
Zfp600	TC	T	4: 146,195,232		probably null	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
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
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'- TGTAGGACCTGGAATATGGCGA -3'
(R):5'- GTTCGAGGTCCTACAGTTTGCA -3'

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

Posted On

2018-06-12