Mutagenetix > Incidental Mutation

Incidental Mutation 'R6013:Cemip2'

479882

Institutional Source

Beutler Lab

Gene Symbol

Cemip2

Ensembl Gene

ENSMUSG00000024754

Gene Name

cell migration inducing hyaluronidase 2

Synonyms

3110012M15Rik, Tmem2

MMRRC Submission

044189-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R6013 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21755706-21835724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21809403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 928 (V928I)

Ref Sequence

ENSEMBL: ENSMUSP00000093908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025663] [ENSMUST00000096194]

AlphaFold

Q5FWI3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025663
AA Change: V928I

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: V928I

Domain	Start	End	E-Value	Type
transmembrane domain	83	105	N/A	INTRINSIC
G8	121	245	1.89e-44	SMART
Pfam:ILEI	265	360	2.1e-24	PFAM
Blast:PbH1	587	609	1e-6	BLAST
low complexity region	621	633	N/A	INTRINSIC
PbH1	669	691	3.62e3	SMART
PbH1	711	733	1.84e3	SMART
PbH1	791	812	1.33e3	SMART
Pfam:ILEI	1243	1333	9e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000096194
AA Change: V928I

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: V928I

Domain	Start	End	E-Value	Type
transmembrane domain	83	105	N/A	INTRINSIC
G8	121	245	1.89e-44	SMART
Blast:PbH1	587	609	1e-6	BLAST
low complexity region	621	633	N/A	INTRINSIC
PbH1	669	691	3.62e3	SMART
PbH1	711	733	1.84e3	SMART
PbH1	791	812	1.33e3	SMART

Meta Mutation Damage Score

0.1034

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700008P02Rik	C	T	3: 6,682,310 (GRCm39)		probably null	Het
Aanat	A	T	11: 116,486,950 (GRCm39)		probably null	Het
Abca17	A	T	17: 24,506,820 (GRCm39)	V1178E	possibly damaging	Het
Abcf3	T	A	16: 20,369,311 (GRCm39)		probably null	Het
Alk	A	G	17: 72,207,732 (GRCm39)	M1001T	probably benign	Het
Arhgap23	C	A	11: 97,391,818 (GRCm39)	S1445Y	probably damaging	Het
Atp10a	T	C	7: 58,447,538 (GRCm39)	I760T	probably benign	Het
Cadm1	C	T	9: 47,768,572 (GRCm39)		probably benign	Het
Car10	A	T	11: 93,076,105 (GRCm39)		probably benign	Het
Casq2	G	T	3: 102,052,945 (GRCm39)		probably null	Het
Clec4f	T	C	6: 83,632,070 (GRCm39)	I55V	probably benign	Het
Cngb1	T	C	8: 96,010,949 (GRCm39)		probably benign	Het
Csn1s2b	A	G	5: 87,972,098 (GRCm39)		probably null	Het
Cyp2c39	A	C	19: 39,501,969 (GRCm39)	R119S	probably benign	Het
Cyp4f16	C	T	17: 32,765,652 (GRCm39)	A345V	probably null	Het
Ddx43	T	C	9: 78,321,567 (GRCm39)	L412S	probably damaging	Het
Dnajb12	G	A	10: 59,730,163 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,347,691 (GRCm39)	S56P	probably benign	Het
Fam83h	A	G	15: 75,875,849 (GRCm39)	F496S	probably damaging	Het
Gcnt4	T	C	13: 97,083,786 (GRCm39)	S361P	possibly damaging	Het
H2-T23	G	T	17: 36,341,474 (GRCm39)	H332Q	probably benign	Het
Hrob	T	C	11: 102,145,859 (GRCm39)	V45A	probably benign	Het
Ift57	G	T	16: 49,519,667 (GRCm39)		probably null	Het
Il1rl2	A	G	1: 40,391,017 (GRCm39)	H320R	possibly damaging	Het
Kansl1	A	G	11: 104,241,465 (GRCm39)	V618A	probably benign	Het
Kctd3	T	C	1: 188,728,665 (GRCm39)	E157G	probably benign	Het
Magohb	T	A	6: 131,270,037 (GRCm39)	D31V	possibly damaging	Het
Mdn1	C	A	4: 32,715,713 (GRCm39)	F1993L	probably damaging	Het
Med29	C	A	7: 28,086,418 (GRCm39)	C130F	probably benign	Het
Mtmr7	G	A	8: 41,034,570 (GRCm39)	R251C	probably damaging	Het
Ncor1	T	C	11: 62,211,903 (GRCm39)	I49V	probably benign	Het
Nfkb1	G	T	3: 135,332,445 (GRCm39)	T109K	possibly damaging	Het
Pkd1l1	A	G	11: 8,819,452 (GRCm39)		probably null	Het
Pkp1	T	A	1: 135,811,648 (GRCm39)	T408S	probably damaging	Het
Plec	A	T	15: 76,073,510 (GRCm39)	D501E	possibly damaging	Het
Prcp	A	C	7: 92,576,976 (GRCm39)	Y335S	possibly damaging	Het
Reg2	T	A	6: 78,384,952 (GRCm39)	Y165N	possibly damaging	Het
Rnf7	T	C	9: 96,353,787 (GRCm39)	*114W	probably null	Het
Scg3	T	C	9: 75,584,090 (GRCm39)	D137G	probably damaging	Het
Serpinb7	T	C	1: 107,377,919 (GRCm39)	V204A	probably benign	Het
Sez6	C	T	11: 77,864,623 (GRCm39)	H528Y	probably damaging	Het
Sf3b1	A	T	1: 55,039,457 (GRCm39)	S723T	probably damaging	Het
Shtn1	T	C	19: 58,963,533 (GRCm39)	D594G	probably damaging	Het
Sptbn4	A	G	7: 27,063,904 (GRCm39)	L2174P	probably damaging	Het
Stk25	A	G	1: 93,553,181 (GRCm39)		probably null	Het
Tep1	A	T	14: 51,098,505 (GRCm39)	F429I	probably damaging	Het
Thada	T	A	17: 84,580,228 (GRCm39)	I1409F	probably benign	Het
Usp25	G	A	16: 76,873,909 (GRCm39)	G495E	probably benign	Het
Washc2	A	G	6: 116,231,114 (GRCm39)	S844G	probably damaging	Het
Xirp2	A	T	2: 67,341,287 (GRCm39)	H1176L	possibly damaging	Het
Ypel1	T	C	16: 16,918,129 (GRCm39)	N96D	probably damaging	Het
Zfand6	C	A	7: 84,281,900 (GRCm39)	V110L	probably benign	Het
Zfp30	A	G	7: 29,488,846 (GRCm39)	R8G	possibly damaging	Het

Other mutations in Cemip2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01319:Cemip2	APN	19	21,822,121 (GRCm39)	missense	possibly damaging	0.77
IGL01528:Cemip2	APN	19	21,812,909 (GRCm39)	missense	possibly damaging	0.95
IGL01642:Cemip2	APN	19	21,801,265 (GRCm39)	missense	probably damaging	1.00
IGL01693:Cemip2	APN	19	21,779,251 (GRCm39)	missense	probably benign	0.00
IGL02437:Cemip2	APN	19	21,789,342 (GRCm39)	critical splice donor site	probably null
IGL02869:Cemip2	APN	19	21,789,241 (GRCm39)	missense	probably damaging	0.99
IGL02880:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL02904:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL02941:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL02950:Cemip2	APN	19	21,819,564 (GRCm39)	missense	probably benign	0.07
IGL03066:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
IGL03120:Cemip2	APN	19	21,801,207 (GRCm39)	missense	possibly damaging	0.68
R0005:Cemip2	UTSW	19	21,789,584 (GRCm39)	missense	probably damaging	0.98
R0496:Cemip2	UTSW	19	21,774,709 (GRCm39)	missense	possibly damaging	0.89
R0557:Cemip2	UTSW	19	21,789,267 (GRCm39)	missense	probably benign	0.05
R0620:Cemip2	UTSW	19	21,795,335 (GRCm39)	missense	probably benign
R1271:Cemip2	UTSW	19	21,801,268 (GRCm39)	missense	possibly damaging	0.92
R1435:Cemip2	UTSW	19	21,822,070 (GRCm39)	missense	probably benign
R1543:Cemip2	UTSW	19	21,789,937 (GRCm39)	missense	probably benign	0.03
R1558:Cemip2	UTSW	19	21,775,346 (GRCm39)	nonsense	probably null
R1658:Cemip2	UTSW	19	21,779,243 (GRCm39)	missense	probably damaging	1.00
R1744:Cemip2	UTSW	19	21,809,501 (GRCm39)	nonsense	probably null
R1859:Cemip2	UTSW	19	21,825,341 (GRCm39)	missense	possibly damaging	0.56
R1943:Cemip2	UTSW	19	21,825,404 (GRCm39)	splice site	probably null
R2001:Cemip2	UTSW	19	21,779,351 (GRCm39)	missense	probably benign	0.43
R2021:Cemip2	UTSW	19	21,822,114 (GRCm39)	missense	possibly damaging	0.91
R2177:Cemip2	UTSW	19	21,789,149 (GRCm39)	missense	possibly damaging	0.80
R2183:Cemip2	UTSW	19	21,801,157 (GRCm39)	missense	possibly damaging	0.81
R2921:Cemip2	UTSW	19	21,795,303 (GRCm39)	missense	possibly damaging	0.80
R2922:Cemip2	UTSW	19	21,795,303 (GRCm39)	missense	possibly damaging	0.80
R2923:Cemip2	UTSW	19	21,795,303 (GRCm39)	missense	possibly damaging	0.80
R3727:Cemip2	UTSW	19	21,822,075 (GRCm39)	missense	probably benign
R3730:Cemip2	UTSW	19	21,803,481 (GRCm39)	missense	probably damaging	0.97
R3790:Cemip2	UTSW	19	21,784,816 (GRCm39)	missense	probably damaging	1.00
R3831:Cemip2	UTSW	19	21,825,315 (GRCm39)	missense	probably damaging	0.97
R3858:Cemip2	UTSW	19	21,829,598 (GRCm39)	missense	probably benign	0.01
R3859:Cemip2	UTSW	19	21,829,598 (GRCm39)	missense	probably benign	0.01
R3899:Cemip2	UTSW	19	21,829,598 (GRCm39)	missense	probably benign	0.01
R4096:Cemip2	UTSW	19	21,770,016 (GRCm39)	start codon destroyed	probably null	0.99
R4206:Cemip2	UTSW	19	21,819,479 (GRCm39)	missense	probably damaging	1.00
R4480:Cemip2	UTSW	19	21,792,853 (GRCm39)	missense	probably benign	0.03
R4667:Cemip2	UTSW	19	21,822,145 (GRCm39)	missense	probably benign
R4667:Cemip2	UTSW	19	21,774,715 (GRCm39)	missense	probably benign	0.00
R4888:Cemip2	UTSW	19	21,833,528 (GRCm39)	missense	probably benign	0.00
R4914:Cemip2	UTSW	19	21,786,653 (GRCm39)	missense	probably benign	0.00
R5030:Cemip2	UTSW	19	21,819,469 (GRCm39)	missense	probably benign
R5329:Cemip2	UTSW	19	21,775,693 (GRCm39)	missense	probably benign	0.30
R5977:Cemip2	UTSW	19	21,803,447 (GRCm39)	missense	probably benign	0.01
R6049:Cemip2	UTSW	19	21,803,490 (GRCm39)	missense	probably benign
R6199:Cemip2	UTSW	19	21,822,186 (GRCm39)	missense	probably benign	0.05
R6215:Cemip2	UTSW	19	21,789,751 (GRCm39)	missense	probably benign	0.02
R6273:Cemip2	UTSW	19	21,779,369 (GRCm39)	missense	probably damaging	1.00
R6429:Cemip2	UTSW	19	21,779,272 (GRCm39)	missense	probably benign	0.14
R6547:Cemip2	UTSW	19	21,822,195 (GRCm39)	missense	probably benign	0.01
R6630:Cemip2	UTSW	19	21,829,593 (GRCm39)	missense	probably damaging	0.99
R6870:Cemip2	UTSW	19	21,809,487 (GRCm39)	missense	possibly damaging	0.91
R7276:Cemip2	UTSW	19	21,812,824 (GRCm39)	missense	probably benign	0.14
R7336:Cemip2	UTSW	19	21,803,509 (GRCm39)	nonsense	probably null
R7363:Cemip2	UTSW	19	21,833,575 (GRCm39)	missense	probably benign
R7678:Cemip2	UTSW	19	21,775,480 (GRCm39)	missense	probably damaging	1.00
R7727:Cemip2	UTSW	19	21,807,321 (GRCm39)	missense	probably benign	0.00
R7820:Cemip2	UTSW	19	21,784,825 (GRCm39)	missense	probably damaging	0.98
R7837:Cemip2	UTSW	19	21,775,385 (GRCm39)	missense	probably benign	0.40
R7859:Cemip2	UTSW	19	21,809,539 (GRCm39)	missense	possibly damaging	0.95
R7954:Cemip2	UTSW	19	21,770,264 (GRCm39)	missense	probably damaging	1.00
R7964:Cemip2	UTSW	19	21,775,794 (GRCm39)	critical splice donor site	probably null
R8058:Cemip2	UTSW	19	21,829,695 (GRCm39)	missense	probably benign	0.12
R8251:Cemip2	UTSW	19	21,784,765 (GRCm39)	missense	possibly damaging	0.82
R8746:Cemip2	UTSW	19	21,803,465 (GRCm39)	missense	probably damaging	1.00
R8820:Cemip2	UTSW	19	21,784,818 (GRCm39)	missense	probably damaging	0.99
R8931:Cemip2	UTSW	19	21,770,323 (GRCm39)	missense	probably benign	0.01
R9022:Cemip2	UTSW	19	21,789,986 (GRCm39)	critical splice donor site	probably null
R9354:Cemip2	UTSW	19	21,779,389 (GRCm39)	missense	probably benign	0.00
R9480:Cemip2	UTSW	19	21,775,622 (GRCm39)	missense	possibly damaging	0.64
R9495:Cemip2	UTSW	19	21,779,249 (GRCm39)	missense	probably damaging	0.99
R9593:Cemip2	UTSW	19	21,803,453 (GRCm39)	missense	probably damaging	1.00
R9705:Cemip2	UTSW	19	21,784,788 (GRCm39)	missense	probably damaging	0.96
R9740:Cemip2	UTSW	19	21,822,105 (GRCm39)	missense	probably benign	0.00
Z1177:Cemip2	UTSW	19	21,833,093 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTTTAATGCTGCCCAGTTGG -3'
(R):5'- GCATTCCACTTAGTAACATTGACAC -3'

Sequencing Primer
(F):5'- CTCAAGGGTGTCGCTTTGTAGC -3'
(R):5'- ACATTGACACAGTTTGGATGGC -3'

Posted On

2017-06-26