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: 0.883) question?

Stock #

PIT4131001 (G1)

Quality Score

82.0076

Status

Not validated

Chromosome

Chromosomal Location

(GRCm39)

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: 173,561,599 (GRCm39)		probably benign	Het
Alpk2	G	A	18: 65,439,450 (GRCm39)	H648Y	possibly damaging	Het
Ambp	A	G	4: 63,062,502 (GRCm39)	Y246H	probably damaging	Het
Amz1	T	C	5: 140,735,088 (GRCm39)		probably null	Het
Anks6	G	A	4: 47,027,109 (GRCm39)	T703I	probably damaging	Het
Armc2	A	G	10: 41,823,883 (GRCm39)		probably benign	Het
Atp7b	T	A	8: 22,484,672 (GRCm39)	I1347F	probably damaging	Het
Atp8a1	C	T	5: 67,779,945 (GRCm39)	W1149*	probably null	Het
Auh	A	G	13: 52,995,046 (GRCm39)	I173T	probably damaging	Het
Axin2	T	C	11: 108,814,829 (GRCm39)	L239P	possibly damaging	Het
Bbs1	A	T	19: 4,949,287 (GRCm39)	F257L	possibly damaging	Het
Cacna2d2	C	T	9: 107,401,867 (GRCm39)	P774L	probably damaging	Het
Card6	A	G	15: 5,137,788 (GRCm39)	L22P	probably damaging	Het
Ccdc171	C	T	4: 83,579,946 (GRCm39)			Het
Ccn2	T	C	10: 24,471,988 (GRCm39)	V70A	probably damaging	Het
Cdc14a	T	A	3: 116,122,310 (GRCm39)	N219I	possibly damaging	Het
Cfap65	G	T	1: 74,967,501 (GRCm39)	N192K	probably benign	Het
Col14a1	T	C	15: 55,312,272 (GRCm39)		probably benign	Het
Col5a1	A	G	2: 27,914,665 (GRCm39)	T94A	probably benign	Het
Col6a5	T	C	9: 105,759,113 (GRCm39)	N2031S	probably damaging	Het
Col7a1	T	C	9: 108,794,989 (GRCm39)		probably benign	Het
Cyld	T	C	8: 89,473,543 (GRCm39)	S739P	probably damaging	Het
Dbr1	A	G	9: 99,466,072 (GRCm39)		probably null	Het
Dip2b	T	C	15: 100,100,233 (GRCm39)	L1267P	probably damaging	Het
Dolk	A	G	2: 30,175,586 (GRCm39)	M153T	probably benign	Het
Duxf1	C	T	10: 58,060,704 (GRCm39)	E17K	possibly damaging	Het
Duxf1	G	A	10: 58,060,136 (GRCm39)		probably benign	Het
Duxf1	A	G	10: 58,059,276 (GRCm39)	C493R	probably benign	Het
Duxf3	A	C	10: 58,067,498 (GRCm39)	S27A	probably benign	Het
Eef1d	C	T	15: 75,775,581 (GRCm39)	R26H	probably benign	Homo
Efcab5	C	T	11: 77,028,517 (GRCm39)			Het
Epc1	T	C	18: 6,449,246 (GRCm39)	D467G	probably damaging	Het
Fancm	T	G	12: 65,152,196 (GRCm39)	M884R	probably benign	Het
Fbxo24	G	T	5: 137,620,164 (GRCm39)	H15N	probably damaging	Het
Frem1	A	G	4: 82,924,045 (GRCm39)	F305L	probably damaging	Het
Fstl5	A	G	3: 76,567,006 (GRCm39)	D550G	probably damaging	Het
Gcnt3	T	G	9: 69,941,326 (GRCm39)	K414T	possibly damaging	Het
Gm10718	A	T	9: 3,024,417 (GRCm39)	T134S	probably benign	Het
Gm10722	A	G,C	9: 3,001,414 (GRCm39)		probably benign	Het
Gm10800	T	C	2: 98,497,163 (GRCm39)	R152G	probably benign	Homo
Gm10800	C	A	2: 98,497,250 (GRCm39)	V123F	probably benign	Homo
Gm10800	A	C	2: 98,496,893 (GRCm39)	F220C	probably benign	Het
Gm10801	A	G	2: 98,492,648 (GRCm39)	R23G	probably benign	Homo
Gm11168	C	T	9: 3,004,605 (GRCm39)	P49S	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTG	T	1: 88,194,000 (GRCm39)		probably benign	Het
Hmgcr	A	G	13: 96,795,562 (GRCm39)	Y336H	probably damaging	Het
Hoxa13	G	C	6: 52,260,648 (GRCm38)		probably benign	Homo
Hoxa13	C	G	6: 52,260,647 (GRCm38)		probably benign	Homo
Igf2bp3	A	C	6: 49,094,084 (GRCm39)		probably null	Het
Kcnb2	A	T	1: 15,383,200 (GRCm39)	K175N	possibly damaging	Het
Kdr	T	C	5: 76,102,631 (GRCm39)		probably benign	Het
Kif5c	A	G	2: 49,584,044 (GRCm39)	K160E	probably damaging	Het
Kif7	A	T	7: 79,360,817 (GRCm39)	V186E	probably damaging	Het
Krt16	T	A	11: 100,139,575 (GRCm39)	T48S	unknown	Het
Liph	T	C	16: 21,814,119 (GRCm39)	M1V	probably null	Het
Mctp2	A	G	7: 71,740,005 (GRCm39)	F795S	probably damaging	Het
Muc4	T	A	16: 32,755,699 (GRCm38)		probably benign	Homo
Muc4	C	G	16: 32,755,676 (GRCm38)		probably benign	Homo
Muc4	T	A	16: 32,755,684 (GRCm38)		probably benign	Homo
Myo15a	G	T	11: 60,373,953 (GRCm39)	A1267S	probably damaging	Het
Myo15a	T	C	11: 60,386,280 (GRCm39)	Y1802H	probably damaging	Het
Myo7b	G	A	18: 32,094,259 (GRCm39)	T1963I	probably benign	Het
Nadk2	TG	T	15: 9,100,232 (GRCm39)		probably null	Homo
Naip5	T	C	13: 100,356,268 (GRCm39)	N1116D	probably benign	Het
Naip5	T	C	13: 100,356,247 (GRCm39)	R1123G	probably benign	Het
Nap1l1	A	G	10: 111,322,583 (GRCm39)	D61G	probably null	Het
Napsa	A	T	7: 44,230,875 (GRCm39)	T81S	probably damaging	Het
Ngp	T	C	9: 110,251,337 (GRCm39)		probably benign	Het
Nktr	T	A	9: 121,570,687 (GRCm39)	V143E	probably damaging	Het
Obscn	A	G	11: 58,957,890 (GRCm39)		probably null	Het
Or10ag53	G	A	2: 87,082,973 (GRCm39)	A231T	probably benign	Het
Or11i1	T	C	3: 106,729,282 (GRCm39)	I198V	probably benign	Het
Or4f56	G	A	2: 111,703,649 (GRCm39)	L184F	probably benign	Het
Or52ab2	C	T	7: 102,970,076 (GRCm39)	R153*	probably null	Het
Or52d3	G	A	7: 104,229,237 (GRCm39)	R128Q	probably damaging	Het
Or6p1	A	G	1: 174,258,390 (GRCm39)	Y132C	probably damaging	Het
Paip2b	A	G	6: 83,785,823 (GRCm39)	Y136H	probably damaging	Het
Pde2a	G	T	7: 101,160,361 (GRCm39)	R845L	probably damaging	Het
Pgap2	A	G	7: 101,886,405 (GRCm39)	Y197C	possibly damaging	Het
Phf11b	A	G	14: 59,560,611 (GRCm39)		probably benign	Het
Pitpnm2	A	T	5: 124,269,178 (GRCm39)	D481E	probably benign	Het
Pxk	A	T	14: 8,152,130 (GRCm38)	H482L	probably benign	Het
Rad50	A	G	11: 53,585,726 (GRCm39)		probably null	Het
Rbmyf1	T	A	Y: 2,787,132 (GRCm39)	N228Y	probably benign	Het
Rbmyf5	T	C	Y: 3,297,411 (GRCm39)	H235R	probably benign	Het
Rbmyf6	C	T	Y: 3,328,944 (GRCm39)	A241T	possibly damaging	Het
Rnf220	A	G	4: 117,134,566 (GRCm39)		probably null	Het
Saxo5	T	A	8: 3,526,062 (GRCm39)	S72T	possibly damaging	Het
Selenbp1	C	T	3: 94,844,607 (GRCm39)	T88M	probably damaging	Het
Sft2d1	T	C	17: 8,609,863 (GRCm39)	I104T	possibly damaging	Het
Sik1	A	G	17: 32,070,305 (GRCm39)	S135P	probably damaging	Het
Slc16a3	T	C	11: 120,846,172 (GRCm39)	F34L	probably damaging	Het
Slc6a20b	T	C	9: 123,612,126 (GRCm38)	N85S	probably benign	Homo
Snrnp27	T	C	6: 86,659,893 (GRCm39)	R34G	unknown	Het
Sos2	T	C	12: 69,664,851 (GRCm39)	H393R	probably benign	Het
Sp110	C	T	1: 85,513,971 (GRCm39)	R262Q	probably benign	Het
Sp110	T	C	1: 85,513,975 (GRCm39)	R261G	probably benign	Het
Sp140	T	A	1: 85,528,893 (GRCm39)	Y5N	probably benign	Het
Sp140	A	G	1: 85,570,942 (GRCm39)	S461G	probably benign	Het
Sp140	G	C	1: 85,538,603 (GRCm39)	K113N	probably benign	Het
Sp140l1	G	A	1: 85,077,341 (GRCm39)	A75V	probably benign	Het
Sp140l2	A	C	1: 85,223,395 (GRCm39)		probably benign	Het
Speer4a2	A	T	5: 26,291,485 (GRCm39)	F107Y	probably benign	Het
Speer4a2	C	G	5: 26,294,093 (GRCm39)	W28C	probably damaging	Het
Ssrp1	G	A	2: 84,868,760 (GRCm39)	V40M	probably damaging	Het
Tada2a	T	C	11: 83,970,563 (GRCm39)	E202G	probably damaging	Het
Tcf20	C	A	15: 82,735,785 (GRCm39)	A1889S	probably damaging	Het
Tdrd12	A	T	7: 35,180,528 (GRCm39)	Y828*	probably null	Het
Tlr2	T	A	3: 83,745,756 (GRCm39)	D109V	probably benign	Het
Tomm40	G	A	7: 19,437,016 (GRCm39)	T17M	probably damaging	Het
Tsga10ip	T	C	19: 5,440,161 (GRCm39)	T135A	possibly damaging	Het
Tspan8	G	A	10: 115,653,515 (GRCm39)	V4M	probably damaging	Het
Ttc28	A	T	5: 111,040,719 (GRCm39)	T36S	probably benign	Het
Ugt1a6b	G	A	1: 88,146,112 (GRCm39)	R519Q	probably damaging	Het
Ugt1a6b	TTCA	T	1: 88,143,880 (GRCm39)		probably benign	Het
Ugt1a6b	G	A	1: 88,143,976 (GRCm39)	A199T	probably damaging	Het
Unc45a	A	G	7: 79,976,109 (GRCm39)	M790T	possibly damaging	Het
Vav3	T	C	3: 109,571,751 (GRCm39)		probably null	Het
Vcpkmt	G	A	12: 69,629,552 (GRCm39)	S70L	probably benign	Het
Vmn1r3	C	T	4: 3,184,691 (GRCm39)	M205I	probably damaging	Het
Vmn1r3	C	T	4: 3,184,774 (GRCm39)	V178I	probably benign	Het
Vmn2r66	T	C	7: 84,644,301 (GRCm39)	Q703R	probably damaging	Het
Vmn2r98	G	T	17: 19,301,223 (GRCm39)	V742F	probably benign	Het
Wfdc8	A	G	2: 164,439,696 (GRCm39)	S229P	possibly damaging	Het
Xpo4	A	T	14: 57,822,068 (GRCm39)	C1083S	probably null	Het
Zbtb38	T	C	9: 96,568,369 (GRCm39)	D905G	probably damaging	Het
Zbtb8b	A	G	4: 129,321,308 (GRCm39)	*518Q	probably null	Het
Zfp600	TC	T	4: 146,131,802 (GRCm39)		probably null	Het
Zfp992	C	T	4: 146,550,569 (GRCm39)	P97S	probably benign	Het

Other mutations in Gm21738

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm21738	APN	14	19,418,885 (GRCm38)	missense	probably benign
IGL01010:Gm21738	APN	14	19,417,361 (GRCm38)	missense	probably benign	0.03
IGL01018:Gm21738	APN	14	19,418,856 (GRCm38)	missense	probably benign	0.39
IGL01865:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01869:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01873:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01877:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01878:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01879:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01880:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01882:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01883:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01884:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01885:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01886:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01888:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01891:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01892:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01893:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01894:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01895:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01896:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01898:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01899:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01900:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01901:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01902:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01903:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01904:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01905:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01906:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01908:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01909:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01910:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01911:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01912:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01913:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01914:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01915:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01916:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01917:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01918:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01919:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01922:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01923:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01924:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01925:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01926:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01932:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01940:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
IGL01949:Gm21738	APN	14	19,416,979 (GRCm38)	missense	probably benign	0.01
PIT4142001:Gm21738	UTSW	14	19,417,330 (GRCm38)	missense	probably benign	0.00
R0831:Gm21738	UTSW	14	19,415,963 (GRCm38)	missense	probably benign
R0831:Gm21738	UTSW	14	19,415,957 (GRCm38)	missense	probably benign	0.01
R0976:Gm21738	UTSW	14	19,415,963 (GRCm38)	missense	probably benign
R1029:Gm21738	UTSW	14	19,415,957 (GRCm38)	missense	probably benign	0.01
R1146:Gm21738	UTSW	14	19,415,963 (GRCm38)	missense	probably benign
R1231:Gm21738	UTSW	14	19,415,963 (GRCm38)	missense	probably benign
R1231:Gm21738	UTSW	14	19,415,957 (GRCm38)	missense	probably benign	0.01
R1402:Gm21738	UTSW	14	19,415,963 (GRCm38)	missense	probably benign
R1402:Gm21738	UTSW	14	19,415,957 (GRCm38)	missense	probably benign	0.01
R1638:Gm21738	UTSW	14	19,418,908 (GRCm38)	missense	probably benign
R1874:Gm21738	UTSW	14	19,418,824 (GRCm38)	missense	possibly damaging	0.64
R4392:Gm21738	UTSW	14	19,417,178 (GRCm38)	missense	probably benign
R4393:Gm21738	UTSW	14	19,417,178 (GRCm38)	missense	probably benign
R5049:Gm21738	UTSW	14	19,415,957 (GRCm38)	missense	probably benign	0.01
R5257:Gm21738	UTSW	14	19,415,942 (GRCm38)	missense	probably benign
R6756:Gm21738	UTSW	14	19,418,824 (GRCm38)	missense	possibly damaging	0.64
R6915:Gm21738	UTSW	14	19,415,933 (GRCm38)	missense	probably benign
V5622:Gm21738	UTSW	14	19,417,180 (GRCm38)	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