Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02950:Cemip2'

364937

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cemip2

Ensembl Gene

ENSMUSG00000024754

Gene Name

cell migration inducing hyaluronidase 2

Synonyms

3110012M15Rik, Tmem2

Accession Numbers

Essential gene?

Probably essential (E-score: 0.820) question?

Stock #

IGL02950

Quality Score

Status

Chromosome

Chromosomal Location

21755706-21835724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21819564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 1118 (K1118N)

Ref Sequence

ENSEMBL: ENSMUSP00000093908 (fasta)

Gene Model

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

AlphaFold

Q5FWI3

Predicted Effect

probably benign
Transcript: ENSMUST00000025663
AA Change: K1118N

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: K1118N

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

probably benign
Transcript: ENSMUST00000096194
AA Change: K1118N

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: K1118N

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,814,406 (GRCm39)	S1129C	possibly damaging	Het
Afm	A	T	5: 90,679,466 (GRCm39)	D320V	probably damaging	Het
Ap5m1	C	T	14: 49,311,392 (GRCm39)	T154I	probably benign	Het
Bcl11b	G	A	12: 107,956,065 (GRCm39)	T28I	probably benign	Het
Bhlhe40	G	T	6: 108,641,503 (GRCm39)	C149F	probably damaging	Het
Bmper	A	T	9: 23,310,790 (GRCm39)	D408V	probably damaging	Het
C1rl	G	A	6: 124,485,820 (GRCm39)	C397Y	probably damaging	Het
C2cd4c	A	G	10: 79,448,665 (GRCm39)	S161P	probably damaging	Het
Cep290	T	C	10: 100,376,191 (GRCm39)		probably benign	Het
Cp	T	C	3: 20,042,165 (GRCm39)	Y978H	probably damaging	Het
Csf2ra	T	C	19: 61,215,607 (GRCm39)	D37G	probably benign	Het
Ddx24	A	G	12: 103,383,801 (GRCm39)	V596A	probably damaging	Het
Dnmt3l	A	G	10: 77,886,785 (GRCm39)	S82G	probably benign	Het
Dock1	A	G	7: 134,331,753 (GRCm39)	Y46C	probably damaging	Het
Eno2	A	T	6: 124,740,081 (GRCm39)	D318E	probably damaging	Het
Gm43738	A	C	3: 88,996,355 (GRCm39)	L120R	probably damaging	Het
Hgsnat	C	A	8: 26,461,729 (GRCm39)	C29F	probably damaging	Het
Hltf	T	A	3: 20,130,736 (GRCm39)	V318D	probably benign	Het
Kcnh8	A	G	17: 53,263,795 (GRCm39)	H764R	probably benign	Het
Kcnq3	A	G	15: 65,892,142 (GRCm39)	F411S	probably benign	Het
Lpcat4	C	A	2: 112,074,387 (GRCm39)	N287K	possibly damaging	Het
Ltbp4	A	C	7: 27,006,143 (GRCm39)	F1512V	probably damaging	Het
Mctp1	A	T	13: 77,172,929 (GRCm39)	L868F	probably damaging	Het
Mdn1	T	C	4: 32,713,360 (GRCm39)		probably benign	Het
Or5g23	A	T	2: 85,438,501 (GRCm39)	L251Q	possibly damaging	Het
Otub2	A	G	12: 103,369,632 (GRCm39)	D237G	probably damaging	Het
Pax3	A	G	1: 78,079,997 (GRCm39)	V463A	probably benign	Het
Podn	T	C	4: 107,875,048 (GRCm39)	K573R	possibly damaging	Het
Ppp5c	A	C	7: 16,740,835 (GRCm39)	S378A	probably benign	Het
Pramel29	A	G	4: 143,939,531 (GRCm39)	V2A	probably benign	Het
Prl2a1	T	A	13: 27,988,914 (GRCm39)	L13Q	probably damaging	Het
Ptgir	A	G	7: 16,641,526 (GRCm39)	T70A	probably damaging	Het
Ralyl	C	A	3: 14,104,781 (GRCm39)	N15K	probably damaging	Het
Rbck1	C	T	2: 152,172,997 (GRCm39)	R17Q	possibly damaging	Het
Ryr1	A	G	7: 28,796,884 (GRCm39)	Y973H	probably damaging	Het
Sh2d6	A	G	6: 72,492,285 (GRCm39)	V260A	probably damaging	Het
Spen	G	A	4: 141,196,819 (GRCm39)	P3559S	probably damaging	Het
Tbcd	T	A	11: 121,494,535 (GRCm39)	V1032D	probably damaging	Het
Trav12-1	T	A	14: 53,776,024 (GRCm39)	V59E	probably damaging	Het
Unc93a	T	A	17: 13,344,455 (GRCm39)	Q29L	probably damaging	Het
Zzef1	A	G	11: 72,808,525 (GRCm39)		probably benign	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
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
R6013:Cemip2	UTSW	19	21,809,403 (GRCm39)	missense	possibly damaging	0.89
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

Posted On

2015-12-18