Mutagenetix > Incidental Mutation

Incidental Mutation 'R7964:Cemip2'

650297

Institutional Source

Beutler Lab

Gene Symbol

Cemip2

Ensembl Gene

ENSMUSG00000024754

Gene Name

cell migration inducing hyaluronidase 2

Synonyms

3110012M15Rik, Tmem2

MMRRC Submission

046007-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R7964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

21755706-21835724 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 21775794 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000025663 (fasta)

Gene Model

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

AlphaFold

Q5FWI3

Predicted Effect

probably null
Transcript: ENSMUST00000025663

SMART Domains

Protein: ENSMUSP00000025663
Gene: ENSMUSG00000024754

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 null
Transcript: ENSMUST00000096194

SMART Domains

Protein: ENSMUSP00000093908
Gene: ENSMUSG00000024754

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,266,146 (GRCm39)	M3042L	probably benign	Het
Abca3	T	A	17: 24,621,410 (GRCm39)	L1345Q	probably benign	Het
Adam20	G	T	8: 41,249,944 (GRCm39)	V685F	probably damaging	Het
Adam25	T	A	8: 41,208,576 (GRCm39)	I614N	probably damaging	Het
Aldh1a7	C	T	19: 20,677,371 (GRCm39)	V417M	probably damaging	Het
Aldh1a7	C	T	19: 20,693,406 (GRCm39)	G171D	probably benign	Het
Aloxe3	T	C	11: 69,017,362 (GRCm39)	F45S	probably damaging	Het
Ankrd26	T	C	6: 118,500,160 (GRCm39)	I1104V	probably benign	Het
Ap3d1	C	A	10: 80,565,891 (GRCm39)	R92L	probably damaging	Het
Aspm	A	G	1: 139,408,424 (GRCm39)	Q2437R	probably damaging	Het
Bcl11a	T	C	11: 24,113,353 (GRCm39)	I232T	probably benign	Het
Cdcp3	G	T	7: 130,899,963 (GRCm39)	R2102L	unknown	Het
Cfap97	A	G	8: 46,623,237 (GRCm39)	D209G	possibly damaging	Het
Csmd2	A	G	4: 128,417,303 (GRCm39)	M2754V		Het
Dcdc2c	A	G	12: 28,520,318 (GRCm39)	I586T		Het
Dkk4	T	C	8: 23,115,368 (GRCm39)	C73R	probably damaging	Het
Dnai3	T	C	3: 145,774,531 (GRCm39)	N439D	probably benign	Het
Dzip3	T	C	16: 48,772,268 (GRCm39)	D467G	probably damaging	Het
Eif5	T	C	12: 111,506,608 (GRCm39)	F67L	probably benign	Het
Elmod1	A	G	9: 53,838,860 (GRCm39)	I100T	probably benign	Het
Gm9837	A	G	11: 53,361,001 (GRCm39)	L71P	unknown	Het
Hpse	A	G	5: 100,846,777 (GRCm39)		probably null	Het
Insc	T	C	7: 114,445,708 (GRCm39)	L472P	probably damaging	Het
Itgax	A	C	7: 127,739,590 (GRCm39)		probably null	Het
Lair1	A	G	7: 4,013,803 (GRCm39)	V148A	probably benign	Het
Lama2	A	G	10: 27,099,977 (GRCm39)		probably null	Het
Ldlrad1	G	A	4: 107,066,688 (GRCm39)	A8T	probably benign	Het
Lgr5	T	C	10: 115,288,079 (GRCm39)	D855G	probably benign	Het
Lrp1	C	A	10: 127,410,913 (GRCm39)	R1425L	possibly damaging	Het
Lrp1b	A	G	2: 40,488,523 (GRCm39)	S4521P		Het
Nbas	A	G	12: 13,406,896 (GRCm39)	Y831C	probably damaging	Het
Nek9	C	A	12: 85,385,787 (GRCm39)	R70L	probably benign	Het
Nlrp2	A	C	7: 5,331,527 (GRCm39)	L290V	probably damaging	Het
Nos1	T	A	5: 118,038,607 (GRCm39)	I480N	probably damaging	Het
Or4a80	T	C	2: 89,583,158 (GRCm39)	N5D	possibly damaging	Het
Pcdhb13	C	A	18: 37,577,871 (GRCm39)	Q750K	possibly damaging	Het
Pik3c2g	C	T	6: 139,827,786 (GRCm39)	T727I		Het
Pik3r6	C	A	11: 68,424,565 (GRCm39)	P390Q	probably benign	Het
Pramel1	T	C	4: 143,123,810 (GRCm39)	S162P	probably benign	Het
Psg21	A	G	7: 18,381,136 (GRCm39)	M469T	probably benign	Het
Psg27	A	T	7: 18,299,124 (GRCm39)	W66R	probably damaging	Het
Sbno2	A	G	10: 79,904,185 (GRCm39)	C371R	probably damaging	Het
Shroom1	G	T	11: 53,355,149 (GRCm39)	K329N	possibly damaging	Het
Slc35a3	A	G	3: 116,480,984 (GRCm39)	I93T	possibly damaging	Het
Slc38a2	G	A	15: 96,590,453 (GRCm39)	T297M	probably benign	Het
Sorl1	T	A	9: 41,902,697 (GRCm39)	D1620V	probably damaging	Het
Srsf4	T	A	4: 131,618,544 (GRCm39)	L45Q	probably benign	Het
Tcaf2	G	A	6: 42,606,640 (GRCm39)	S438L	probably benign	Het
Trappc11	T	A	8: 47,979,979 (GRCm39)	I186L	possibly damaging	Het
Usp9y	A	T	Y: 1,316,914 (GRCm39)	N1878K	probably benign	Het
Zfp280d	T	A	9: 72,229,740 (GRCm39)	M349K	probably damaging	Het
Zgpat	A	G	2: 181,020,274 (GRCm39)	H227R	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
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
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'- AAGTTCGATACCCACGAGTACC -3'
(R):5'- ACCCAAGCCAAGATGTTCTG -3'

Sequencing Primer
(F):5'- TTCGATACCCACGAGTACCACAATG -3'
(R):5'- CATCTAGTAGTTAGACCCAGGGTTC -3'

Posted On

2020-09-15