Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02904:Cemip2'

363757

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 #

IGL02904

Quality Score

Status

Chromosome

Chromosomal Location

21755706-21835724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21801207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 775 (D775N)

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: D775N

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: D775N

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: D775N

PolyPhen 2 Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: D775N

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,620,990 (GRCm39)	S564P	probably damaging	Het
A1cf	A	C	19: 31,912,206 (GRCm39)	K432N	probably damaging	Het
Acp7	A	T	7: 28,307,428 (GRCm39)	D476E	probably benign	Het
Aqp9	T	A	9: 71,045,430 (GRCm39)	I60F	probably damaging	Het
B2m	A	C	2: 121,981,642 (GRCm39)		probably benign	Het
B3galt1	T	A	2: 67,949,089 (GRCm39)	V268E	probably damaging	Het
Cacna1a	T	C	8: 85,306,149 (GRCm39)	L1299P	probably damaging	Het
Ces2e	C	T	8: 105,657,970 (GRCm39)	P356L	probably benign	Het
Crmp1	A	T	5: 37,446,262 (GRCm39)	K639N	possibly damaging	Het
Ddx17	G	A	15: 79,414,638 (GRCm39)	R510*	probably null	Het
Dner	C	T	1: 84,512,665 (GRCm39)	V301M	probably damaging	Het
Efr3b	T	G	12: 4,034,583 (GRCm39)	I196L	probably damaging	Het
Fat1	T	C	8: 45,493,719 (GRCm39)	V3955A	probably damaging	Het
Gid4	T	C	11: 60,308,561 (GRCm39)	I27T	probably benign	Het
Glis3	A	G	19: 28,335,352 (GRCm39)	F571L	possibly damaging	Het
Gm4950	T	C	18: 51,998,803 (GRCm39)	I51V	probably benign	Het
Gm5592	T	C	7: 40,937,810 (GRCm39)	L364P	probably damaging	Het
Gucy2d	G	A	7: 98,111,396 (GRCm39)		probably null	Het
Kpna6	A	G	4: 129,544,480 (GRCm39)	I411T	probably benign	Het
Lcn11	A	G	2: 25,669,278 (GRCm39)	D145G	probably null	Het
Lrrc37	A	C	11: 103,507,187 (GRCm39)		probably benign	Het
Med12	A	G	X: 100,337,784 (GRCm39)		probably null	Het
Mtor	A	G	4: 148,536,851 (GRCm39)	K42E	possibly damaging	Het
Mtor	A	G	4: 148,576,069 (GRCm39)		probably benign	Het
Mybpc2	T	C	7: 44,171,765 (GRCm39)	D55G	probably benign	Het
Myo1f	T	A	17: 33,804,632 (GRCm39)	C445*	probably null	Het
Naca	C	T	10: 127,879,159 (GRCm39)		probably benign	Het
Nlgn2	T	C	11: 69,716,666 (GRCm39)	Y625C	possibly damaging	Het
Nlrp9c	A	T	7: 26,074,715 (GRCm39)	C827S	probably damaging	Het
Nudt12	T	A	17: 59,317,347 (GRCm39)	N100I	probably benign	Het
Or2t43	T	A	11: 58,457,623 (GRCm39)	T183S	possibly damaging	Het
Or5g9	T	C	2: 85,552,099 (GRCm39)	S117P	probably damaging	Het
Or7d10	A	T	9: 19,832,393 (GRCm39)	D296V	probably damaging	Het
Or8s5	A	T	15: 98,238,729 (GRCm39)	L31Q	probably null	Het
Picalm	G	A	7: 89,825,619 (GRCm39)		probably benign	Het
Pkd1l1	A	G	11: 8,818,450 (GRCm39)		probably benign	Het
Scube3	T	C	17: 28,386,574 (GRCm39)	V831A	probably benign	Het
Slco5a1	A	G	1: 12,991,321 (GRCm39)	I456T	probably damaging	Het
Snx3	A	G	10: 42,410,690 (GRCm39)	H110R	probably damaging	Het
Spef2	T	C	15: 9,679,432 (GRCm39)	D635G	probably damaging	Het
St3gal5	A	T	6: 72,124,108 (GRCm39)	I212L	possibly damaging	Het
Syvn1	T	A	19: 6,099,845 (GRCm39)	Y192*	probably null	Het
Tmtc1	A	G	6: 148,150,980 (GRCm39)		probably benign	Het
Trappc14	C	T	5: 138,258,864 (GRCm39)	V232I	probably benign	Het
Trip11	T	G	12: 101,853,097 (GRCm39)	E499D	probably damaging	Het
Ttn	A	T	2: 76,562,375 (GRCm39)	N28823K	probably damaging	Het
Unc13c	C	A	9: 73,388,349 (GRCm39)	G2146*	probably null	Het
Ush2a	G	T	1: 188,638,703 (GRCm39)	V4038L	probably benign	Het
Zc3h7a	T	G	16: 10,968,530 (GRCm39)	D483A	probably damaging	Het
Zfyve19	T	C	2: 119,040,953 (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
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
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