Mutagenetix > Incidental Mutation

Incidental Mutation 'R0377:Izumo4'

30813

Institutional Source

Beutler Lab

Gene Symbol

Izumo4

Ensembl Gene

ENSMUSG00000055862

Gene Name

IZUMO family member 4

Synonyms

9030607L17Rik

MMRRC Submission

038583-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0377 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80538018-80541207 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 80538674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 42 (R42H)

Ref Sequence

ENSEMBL: ENSMUSP00000151397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003438] [ENSMUST00000020420] [ENSMUST00000218090] [ENSMUST00000218184]

AlphaFold

D3Z690

Predicted Effect

probably benign
Transcript: ENSMUST00000003438

SMART Domains

Protein: ENSMUSP00000003438
Gene: ENSMUSG00000003348

Domain	Start	End	E-Value	Type
Mob1_phocein	34	208	6.02e-107	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000020420

SMART Domains

Protein: ENSMUSP00000020420
Gene: ENSMUSG00000020198

Domain	Start	End	E-Value	Type
Pfam:Adaptin_N	32	583	6.6e-153	PFAM
Pfam:Cnd1	130	292	2.1e-8	PFAM
low complexity region	629	642	N/A	INTRINSIC
BLVR	660	803	5.3e-80	SMART
low complexity region	835	861	N/A	INTRINSIC
low complexity region	871	881	N/A	INTRINSIC
coiled coil region	910	933	N/A	INTRINSIC
low complexity region	947	964	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000095426
AA Change: R39H

SMART Domains

Protein: ENSMUSP00000093076
Gene: ENSMUSG00000055862
AA Change: R39H

Domain	Start	End	E-Value	Type
Pfam:IZUMO	26	167	1.1e-31	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217742

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217823

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218058

Predicted Effect

probably benign
Transcript: ENSMUST00000218090

Predicted Effect

probably damaging
Transcript: ENSMUST00000218184
AA Change: R42H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219420

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219746

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219986

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219987

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218538

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219422

Predicted Effect

probably benign
Transcript: ENSMUST00000218330

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219152

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219816

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218439

Meta Mutation Damage Score

0.2968

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

97% (67/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	A	11: 94,265,922 (GRCm39)	V107F	possibly damaging	Het
Acad11	T	A	9: 103,958,891 (GRCm39)		probably benign	Het
Ache	G	A	5: 137,289,190 (GRCm39)	E299K	possibly damaging	Het
Adam5	T	C	8: 25,237,557 (GRCm39)	T618A	probably benign	Het
Amigo2	T	A	15: 97,144,261 (GRCm39)	T54S	possibly damaging	Het
Anapc1	A	G	2: 128,483,260 (GRCm39)		probably null	Het
Btaf1	A	G	19: 36,966,402 (GRCm39)	K1057E	probably benign	Het
Cep55	T	A	19: 38,060,337 (GRCm39)	L396*	probably null	Het
Cic	C	A	7: 24,985,224 (GRCm39)	H1157N	probably damaging	Het
Cntnap5a	A	T	1: 116,220,259 (GRCm39)	T690S	probably benign	Het
D5Ertd579e	A	T	5: 36,761,911 (GRCm39)	C1319S	probably benign	Het
Dnah6	A	G	6: 73,098,975 (GRCm39)	S2027P	possibly damaging	Het
Dnai4	A	G	4: 102,905,456 (GRCm39)	V775A	probably damaging	Het
Dntt	G	A	19: 41,036,066 (GRCm39)	W369*	probably null	Het
Esp18	T	A	17: 39,720,835 (GRCm39)	W27R	probably benign	Het
Fam227b	A	T	2: 125,966,920 (GRCm39)		probably benign	Het
Fbxo31	G	A	8: 122,285,841 (GRCm39)		probably benign	Het
Gm13547	G	A	2: 29,651,803 (GRCm39)		probably null	Het
Gnl2	T	A	4: 124,940,175 (GRCm39)		probably benign	Het
Gpx2	G	A	12: 76,841,930 (GRCm39)	Q74*	probably null	Het
Gucy2c	A	G	6: 136,727,915 (GRCm39)		probably null	Het
Hoxa5	A	T	6: 52,179,626 (GRCm39)	W250R	probably damaging	Het
Kcnj12	G	A	11: 60,960,222 (GRCm39)	M71I	probably benign	Het
Kmt2b	A	T	7: 30,273,618 (GRCm39)	L2333Q	probably damaging	Het
Mak	T	C	13: 41,202,824 (GRCm39)	E177G	probably damaging	Het
Map3k7	T	A	4: 31,985,731 (GRCm39)	I218N	probably damaging	Het
Mark3	T	C	12: 111,595,463 (GRCm39)	L393P	probably damaging	Het
Msh4	A	G	3: 153,602,527 (GRCm39)	S234P	probably benign	Het
Mug1	A	G	6: 121,834,320 (GRCm39)	D367G	probably benign	Het
Mypn	A	G	10: 62,963,401 (GRCm39)		probably benign	Het
Ncapg	T	C	5: 45,851,159 (GRCm39)	V784A	probably benign	Het
Nutf2	T	A	8: 106,605,504 (GRCm39)	V113D	probably damaging	Het
Odad2	G	A	18: 7,127,415 (GRCm39)	R933C	probably benign	Het
Opn3	T	C	1: 175,491,260 (GRCm39)	M258V	probably damaging	Het
Or8k33	A	T	2: 86,383,927 (GRCm39)	D180E	probably damaging	Het
Osbpl7	A	G	11: 96,946,760 (GRCm39)	D211G	probably damaging	Het
Pcnx1	C	T	12: 82,021,353 (GRCm39)		probably benign	Het
Plekhd1	G	A	12: 80,753,210 (GRCm39)		probably benign	Het
Pnpla6	A	G	8: 3,591,501 (GRCm39)	E1165G	probably damaging	Het
Prkab2	T	A	3: 97,569,633 (GRCm39)	D66E	probably benign	Het
Prpsap2	A	G	11: 61,631,826 (GRCm39)	I177T	possibly damaging	Het
Ptpn23	A	T	9: 110,217,200 (GRCm39)	S885R	possibly damaging	Het
Rab26	A	T	17: 24,749,019 (GRCm39)		probably benign	Het
Rab5a	G	A	17: 53,807,490 (GRCm39)	M175I	probably benign	Het
Rassf9	T	A	10: 102,381,510 (GRCm39)	D297E	probably benign	Het
Rimbp2	C	T	5: 128,880,925 (GRCm39)	R161Q	probably damaging	Het
Rtp1	A	G	16: 23,250,034 (GRCm39)	Y133C	probably damaging	Het
Sdr16c5	G	A	4: 4,005,546 (GRCm39)	L263F	probably benign	Het
Sec14l1	T	G	11: 117,039,966 (GRCm39)		probably benign	Het
Snrnp40	C	G	4: 130,271,836 (GRCm39)		probably null	Het
Spaca1	T	C	4: 34,044,267 (GRCm39)		probably null	Het
Stk36	C	T	1: 74,651,889 (GRCm39)	P394L	probably benign	Het
Stk4	T	C	2: 163,938,720 (GRCm39)	I196T	probably damaging	Het
Sult1b1	A	T	5: 87,665,235 (GRCm39)	M233K	probably damaging	Het
Tmem8b	C	T	4: 43,674,005 (GRCm39)	T212M	probably damaging	Het
Tmprss11g	A	T	5: 86,638,610 (GRCm39)	F293I	probably damaging	Het
Tnfsf11	T	G	14: 78,537,352 (GRCm39)	T104P	probably benign	Het
Trmt2a	G	A	16: 18,067,567 (GRCm39)	R80Q	possibly damaging	Het
Trps1	C	A	15: 50,695,174 (GRCm39)	E324*	probably null	Het
U2surp	C	T	9: 95,366,496 (GRCm39)	V470I	probably benign	Het
Wdr18	G	A	10: 79,803,336 (GRCm39)	R400H	probably benign	Het
Zfp119b	T	A	17: 56,245,671 (GRCm39)	H505L	probably damaging	Het
Zfp619	T	A	7: 39,186,221 (GRCm39)	C750*	probably null	Het
Zfr	T	C	15: 12,160,677 (GRCm39)	I750T	probably benign	Het

Other mutations in Izumo4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02850:Izumo4	APN	10	80,540,032 (GRCm39)	unclassified	probably benign
IGL03019:Izumo4	APN	10	80,539,680 (GRCm39)	unclassified	probably benign
IGL03391:Izumo4	APN	10	80,540,947 (GRCm39)	missense	probably damaging	0.97
F5770:Izumo4	UTSW	10	80,539,725 (GRCm39)	missense	probably benign	0.02
IGL02835:Izumo4	UTSW	10	80,540,959 (GRCm39)	missense	probably benign
R0304:Izumo4	UTSW	10	80,538,770 (GRCm39)	missense	probably damaging	1.00
R0411:Izumo4	UTSW	10	80,538,918 (GRCm39)	missense	probably damaging	0.99
R0498:Izumo4	UTSW	10	80,540,030 (GRCm39)	critical splice donor site	probably null
R1822:Izumo4	UTSW	10	80,539,729 (GRCm39)	missense	probably damaging	1.00
R1870:Izumo4	UTSW	10	80,539,569 (GRCm39)	missense	probably damaging	1.00
R1977:Izumo4	UTSW	10	80,538,955 (GRCm39)	missense	probably damaging	1.00
R2237:Izumo4	UTSW	10	80,538,664 (GRCm39)	missense	probably damaging	1.00
R5288:Izumo4	UTSW	10	80,538,639 (GRCm39)	nonsense	probably null
R5543:Izumo4	UTSW	10	80,538,668 (GRCm39)	missense	probably damaging	1.00
R5587:Izumo4	UTSW	10	80,539,054 (GRCm39)	missense	probably damaging	1.00
R6199:Izumo4	UTSW	10	80,538,707 (GRCm39)	missense	probably damaging	1.00
R6222:Izumo4	UTSW	10	80,538,885 (GRCm39)	missense	probably damaging	1.00
R6349:Izumo4	UTSW	10	80,538,551 (GRCm39)	start codon destroyed	probably null	0.02
R8264:Izumo4	UTSW	10	80,538,572 (GRCm39)	missense
V7580:Izumo4	UTSW	10	80,539,725 (GRCm39)	missense	probably benign	0.02
V7581:Izumo4	UTSW	10	80,539,725 (GRCm39)	missense	probably benign	0.02
V7582:Izumo4	UTSW	10	80,539,725 (GRCm39)	missense	probably benign	0.02
V7583:Izumo4	UTSW	10	80,539,725 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- AGAGTTGGAAGCATGATCAGGCCC -3'
(R):5'- AACGGTCAAGTTCAGGTGCGTAG -3'

Sequencing Primer
(F):5'- GCGCGAGCTGTTGGTTG -3'
(R):5'- GAAGTACATCTTCCCCTGGTACAG -3'

Posted On

2013-04-24