Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01528:Cemip2'

89638

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 #

IGL01528

Quality Score

Status

Chromosome

Chromosomal Location

21755706-21835724 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21812909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1038 (V1038A)

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: V1038A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754
AA Change: V1038A

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: V1038A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754
AA Change: V1038A

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	A	9: 21,451,190 (GRCm39)		probably benign	Het
Cdc45	A	G	16: 18,630,311 (GRCm39)	F2S	probably damaging	Het
Cdon	A	G	9: 35,381,403 (GRCm39)	R598G	possibly damaging	Het
Dusp22	C	T	13: 30,889,611 (GRCm39)	T64I	probably benign	Het
Gfer	T	A	17: 24,914,903 (GRCm39)	T47S	probably benign	Het
Gfra2	T	C	14: 71,203,738 (GRCm39)	S296P	possibly damaging	Het
Gjb2	G	A	14: 57,338,125 (GRCm39)	L28F	probably damaging	Het
Gm17782	A	G	17: 36,472,682 (GRCm39)		probably benign	Het
Gm2832	T	C	14: 41,003,670 (GRCm39)	V167A	unknown	Het
Gpr155	A	G	2: 73,192,767 (GRCm39)		probably null	Het
Gpr45	A	G	1: 43,072,383 (GRCm39)	H342R	probably benign	Het
Gsdmd	A	T	15: 75,735,354 (GRCm39)	T33S	possibly damaging	Het
Hal	T	A	10: 93,333,455 (GRCm39)	L341Q	probably damaging	Het
Igfbp7	T	G	5: 77,499,179 (GRCm39)	D273A	probably damaging	Het
Kdm2a	T	C	19: 4,393,083 (GRCm39)	D424G	probably benign	Het
Kif13a	C	T	13: 47,018,313 (GRCm39)		probably benign	Het
Krt35	A	T	11: 99,985,420 (GRCm39)	L207Q	probably damaging	Het
Lrp1b	A	T	2: 40,809,194 (GRCm39)	D2572E	probably damaging	Het
Lrp2	A	G	2: 69,322,804 (GRCm39)	V1848A	probably damaging	Het
Myo9a	T	C	9: 59,686,957 (GRCm39)	Y21H	probably damaging	Het
Ncan	G	T	8: 70,562,731 (GRCm39)	A509E	probably benign	Het
Or2q1	T	C	6: 42,795,208 (GRCm39)	S268P	probably damaging	Het
Pde11a	G	A	2: 76,025,300 (GRCm39)		probably benign	Het
Phf19	G	T	2: 34,787,119 (GRCm39)	D448E	probably damaging	Het
Ptprj	A	T	2: 90,282,488 (GRCm39)	V799D	probably damaging	Het
Rpgrip1	T	A	14: 52,349,634 (GRCm39)	Y7*	probably null	Het
Sema3c	A	G	5: 17,919,413 (GRCm39)	H483R	probably benign	Het
Slc4a11	A	G	2: 130,527,328 (GRCm39)		probably benign	Het
St3gal1	C	A	15: 66,984,466 (GRCm39)	R103L	probably benign	Het
Tet2	A	T	3: 133,186,059 (GRCm39)	V1126E	possibly damaging	Het
Tmem117	A	T	15: 94,992,545 (GRCm39)	I402L	probably benign	Het
Ttc28	T	A	5: 111,249,826 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,702,182 (GRCm39)		probably benign	Het
Vmn1r7	T	A	6: 57,001,532 (GRCm39)	M243L	probably benign	Het
Wnt1	G	T	15: 98,689,714 (GRCm39)	W167L	probably damaging	Het
Zfp553	G	T	7: 126,835,387 (GRCm39)	S314I	probably damaging	Het
Zranb2	T	C	3: 157,250,602 (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
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
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

2013-12-03