Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02941:Cemip2'

364518

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: 0.773) question?

Stock #

IGL02941

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405O20Rik	G	A	7: 50,249,284 (GRCm39)	R106Q	probably damaging	Het
Amhr2	T	C	15: 102,355,724 (GRCm39)	V223A	probably damaging	Het
Aqr	T	A	2: 113,943,835 (GRCm39)	H1101L	probably damaging	Het
Arnt	T	A	3: 95,367,681 (GRCm39)		probably benign	Het
Cacnb2	G	A	2: 14,963,640 (GRCm39)	V85I	probably benign	Het
Cast	A	T	13: 74,848,806 (GRCm39)	D727E	probably damaging	Het
Ccdc134	C	T	15: 82,025,151 (GRCm39)	R217W	probably damaging	Het
Col5a3	A	G	9: 20,715,962 (GRCm39)	S360P	unknown	Het
Cyp4f16	T	C	17: 32,756,061 (GRCm39)	I30T	possibly damaging	Het
Dop1b	T	C	16: 93,552,361 (GRCm39)	F267L	probably benign	Het
Fbxo3	A	G	2: 103,880,639 (GRCm39)	T250A	probably damaging	Het
Gm4953	C	T	1: 158,995,963 (GRCm39)		noncoding transcript	Het
Gm9242	T	C	16: 97,292,279 (GRCm39)		probably benign	Het
Gsr	G	A	8: 34,179,453 (GRCm39)	V354I	probably damaging	Het
H2bc21	A	G	3: 96,128,732 (GRCm39)	Y84C	possibly damaging	Het
Hecw1	T	A	13: 14,552,311 (GRCm39)	D96V	probably damaging	Het
Il18r1	A	G	1: 40,537,711 (GRCm39)	Y492C	probably damaging	Het
Itgb5	T	G	16: 33,764,465 (GRCm39)		probably benign	Het
Lars2	T	G	9: 123,288,650 (GRCm39)	L832R	probably damaging	Het
Ms4a6c	A	G	19: 11,448,466 (GRCm39)		probably benign	Het
Nrxn1	T	C	17: 90,515,811 (GRCm39)	S1227G	probably damaging	Het
Or1j11	T	C	2: 36,312,132 (GRCm39)	C241R	probably damaging	Het
Or2c1	T	C	16: 3,657,680 (GRCm39)	V281A	possibly damaging	Het
Or52r1c	A	G	7: 102,735,528 (GRCm39)	T263A	probably benign	Het
Pcdh17	A	G	14: 84,685,747 (GRCm39)	Y738C	probably damaging	Het
Pcsk5	C	A	19: 17,424,865 (GRCm39)	C1646F	probably damaging	Het
Pirb	A	G	7: 3,720,377 (GRCm39)	V332A	probably damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Polrmt	A	T	10: 79,573,092 (GRCm39)		probably benign	Het
Saxo1	G	T	4: 86,363,821 (GRCm39)	R221S	probably damaging	Het
Specc1l	A	G	10: 75,077,022 (GRCm39)	I93V	probably benign	Het
St8sia2	T	A	7: 73,626,397 (GRCm39)		probably benign	Het
Tep1	A	T	14: 51,103,494 (GRCm39)	N265K	probably damaging	Het
Thbd	A	T	2: 148,248,954 (GRCm39)	Y305N	probably damaging	Het
Tmem120a	T	C	5: 135,764,605 (GRCm39)	T325A	probably damaging	Het
Vill	G	A	9: 118,895,955 (GRCm39)		probably benign	Het
Wdr35	A	G	12: 9,077,507 (GRCm39)	D1060G	probably damaging	Het
Xrn2	T	A	2: 146,868,444 (GRCm39)	F166I	probably damaging	Het
Zc3h7a	T	G	16: 10,976,458 (GRCm39)		probably null	Het
Zdhhc13	G	A	7: 48,466,886 (GRCm39)		probably benign	Het
Zfp808	T	A	13: 62,320,944 (GRCm39)	N724K	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
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