Mutagenetix > Incidental Mutation

Incidental Mutation 'R7197:Igsf5'

560048

Institutional Source

Beutler Lab

Gene Symbol

Igsf5

Ensembl Gene

ENSMUSG00000000159

Gene Name

immunoglobulin superfamily, member 5

Synonyms

Igsf5, Jam4

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R7197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96361668-96525580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96403346 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 366 (N366K)

Ref Sequence

ENSEMBL: ENSMUSP00000000163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000163] [ENSMUST00000081093] [ENSMUST00000113794] [ENSMUST00000113795] [ENSMUST00000136292]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000000163
AA Change: N366K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000000163
Gene: ENSMUSG00000000159
AA Change: N366K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	31	127	9.63e-6	SMART
IG	134	221	2.64e0	SMART
transmembrane domain	239	261	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000081093
AA Change: N266K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079874
Gene: ENSMUSG00000000159
AA Change: N266K

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	31	125	4.74e-5	SMART
transmembrane domain	139	161	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113794

SMART Domains

Protein: ENSMUSP00000109425
Gene: ENSMUSG00000000159

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	31	127	9.63e-6	SMART
IG	134	221	2.64e0	SMART
transmembrane domain	239	261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113795

SMART Domains

Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG	31	125	4.74e-5	SMART
transmembrane domain	139	161	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136292

Meta Mutation Damage Score

0.1088

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in no obvious abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,258,222		probably null	Het
Aars2	T	C	17: 45,508,959	Y221H	probably damaging	Het
Abca8b	G	A	11: 109,945,822	R1216*	probably null	Het
Acad8	A	T	9: 26,977,671		probably null	Het
Acer2	A	G	4: 86,887,050	T84A	probably null	Het
Adgrb2	A	G	4: 130,009,522	N613S	probably damaging	Het
Arap2	T	C	5: 62,641,386	D1300G	possibly damaging	Het
Ccl11	A	T	11: 82,057,839		probably benign	Het
Cfh	A	T	1: 140,088,767	Y1151*	probably null	Het
Cobll1	A	G	2: 65,098,538	S815P	probably benign	Het
Cryz	T	C	3: 154,621,568	S240P	probably damaging	Het
Csmd2	A	G	4: 128,511,033	Y2404C		Het
F13a1	T	C	13: 36,916,886	D428G	probably damaging	Het
Fbxo42	A	G	4: 141,200,085	S559G	probably benign	Het
Fry	A	G	5: 150,469,767	S263G		Het
Fshr	C	T	17: 88,985,469	A594T	probably damaging	Het
Gatsl3	T	C	11: 4,218,949	C39R	probably damaging	Het
Gm1527	A	G	3: 28,926,541	M597V	probably null	Het
Gpr158	A	T	2: 21,810,601	T602S	probably damaging	Het
Hmgxb4	C	A	8: 75,029,996	T583K	probably damaging	Het
Igkv8-30	C	T	6: 70,117,085	C114Y	probably damaging	Het
Kif15	T	C	9: 123,009,926		probably null	Het
Klk1b26	T	A	7: 44,016,397		probably null	Het
Lama1	G	T	17: 67,737,705	E200*	probably null	Het
Lpar5	C	T	6: 125,082,384	T356I	probably benign	Het
Lrch3	A	T	16: 32,990,295	T538S	probably damaging	Het
Mansc4	A	G	6: 147,075,705	S138P	probably damaging	Het
Mief1	T	C	15: 80,249,860	S373P	possibly damaging	Het
Nbas	G	T	12: 13,520,750	V2053F	possibly damaging	Het
Nek11	T	C	9: 105,244,415	E435G	probably damaging	Het
Nynrin	A	T	14: 55,871,923	I1496F	probably benign	Het
Odf1	A	T	15: 38,219,550	M41L	probably benign	Het
Olfr1209	A	T	2: 88,910,364	F10I	probably benign	Het
Olfr1220	A	G	2: 89,097,282	V215A	probably benign	Het
Olfr713	A	G	7: 107,036,157	M8V	probably benign	Het
Olfr871	T	G	9: 20,212,555	S69A	probably benign	Het
Oxnad1	T	C	14: 32,096,516	V106A	possibly damaging	Het
Padi4	C	A	4: 140,761,658	E157*	probably null	Het
Parp10	A	T	15: 76,242,416	F217L	probably damaging	Het
Pcdhb18	T	A	18: 37,490,383	S255R	probably benign	Het
Pde4c	G	T	8: 70,745,329	G102W	probably damaging	Het
Pde6a	T	C	18: 61,258,224	Y547H	probably damaging	Het
Phf11b	A	T	14: 59,326,058	L137I	probably benign	Het
Pigh	A	C	12: 79,083,689	I134S	probably damaging	Het
Pigt	G	A	2: 164,502,516	V362M	probably damaging	Het
Pld1	A	G	3: 28,024,252	D20G	probably damaging	Het
Pou3f2	T	C	4: 22,487,288	R282G	probably damaging	Het
Ppp2r5d	A	G	17: 46,685,601	V382A	probably damaging	Het
Prdm16	T	C	4: 154,341,510	E606G	probably damaging	Het
Psg28	A	G	7: 18,430,584	Y68H	probably damaging	Het
Qpctl	C	A	7: 19,149,019	W56L	probably damaging	Het
Rab11fip5	G	A	6: 85,342,155	P584L	probably damaging	Het
Sde2	C	T	1: 180,851,278	H36Y	probably benign	Het
Sema4d	T	C	13: 51,702,836	S787G	probably benign	Het
Sgca	C	T	11: 94,973,188		probably null	Het
Shroom3	A	G	5: 92,942,604	E1071G	probably damaging	Het
Skint5	A	G	4: 113,580,482		probably null	Het
Slc44a3	T	A	3: 121,525,762	D110V	probably benign	Het
Slc4a4	A	C	5: 88,934,574		probably benign	Het
Slc4a8	A	G	15: 100,790,976	D389G	probably damaging	Het
Sp3	C	G	2: 72,979,609	E11Q	probably benign	Het
Srrm2	A	G	17: 23,818,224	S1281G	unknown	Het
Tat	A	T	8: 109,996,827	I316F	probably benign	Het
Thoc5	A	G	11: 4,915,563	T381A	probably benign	Het
Tiam1	T	C	16: 89,884,938	Y384C	probably damaging	Het
Tmem45a	A	T	16: 56,811,663	F197L	probably damaging	Het
Trav8d-1	A	G	14: 52,778,978	Y107C	probably damaging	Het
Trim10	T	A	17: 36,876,954	V354D	probably damaging	Het
Unc45b	A	T	11: 82,940,187		probably null	Het
Unc79	A	G	12: 103,112,506	I1643M	probably benign	Het
Unc80	G	T	1: 66,521,566	G818*	probably null	Het
Usp15	A	T	10: 123,131,005	M470K	possibly damaging	Het
Vldlr	T	C	19: 27,234,841	V85A	probably benign	Het
Vma21-ps	A	G	4: 52,496,994	V84A	probably benign	Het
Vmn2r67	C	T	7: 85,136,566	V744I	possibly damaging	Het
Wdr73	A	G	7: 80,893,198	C221R	probably benign	Het
Zxdc	C	T	6: 90,378,837	H443Y	probably damaging	Het

Other mutations in Igsf5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Igsf5	APN	16	96391020	missense	possibly damaging	0.72
IGL01335:Igsf5	APN	16	96373153	splice site	probably benign
IGL02576:Igsf5	APN	16	96386581	missense	probably benign	0.23
IGL02721:Igsf5	APN	16	96391022	missense	probably damaging	0.98
IGL03289:Igsf5	APN	16	96525432	missense	possibly damaging	0.94
R0630:Igsf5	UTSW	16	96372823	splice site	probably benign
R1858:Igsf5	UTSW	16	96386629	splice site	probably null
R1961:Igsf5	UTSW	16	96378351	missense	probably damaging	1.00
R2508:Igsf5	UTSW	16	96364047	missense	probably benign	0.01
R4491:Igsf5	UTSW	16	96364081	missense	probably benign	0.02
R5123:Igsf5	UTSW	16	96373079	missense	probably damaging	1.00
R5262:Igsf5	UTSW	16	96391037	nonsense	probably null
R5384:Igsf5	UTSW	16	96391026	missense	probably benign	0.21
R5558:Igsf5	UTSW	16	96386531	missense	possibly damaging	0.95
R5950:Igsf5	UTSW	16	96372872	missense	probably benign	0.07
R5957:Igsf5	UTSW	16	96364049	missense	probably benign	0.10
R6199:Igsf5	UTSW	16	96421739	missense	possibly damaging	0.66
R6298:Igsf5	UTSW	16	96396448	missense	possibly damaging	0.93
R7164:Igsf5	UTSW	16	96372848	missense	possibly damaging	0.85
R8213:Igsf5	UTSW	16	96372988	missense	probably damaging	1.00
R8353:Igsf5	UTSW	16	96421796	missense	probably benign	0.00
R8453:Igsf5	UTSW	16	96421796	missense	probably benign	0.00
R8823:Igsf5	UTSW	16	96421739	missense	possibly damaging	0.66
R9798:Igsf5	UTSW	16	96372875	missense	probably damaging	1.00
Z1176:Igsf5	UTSW	16	96391023	missense	probably damaging	1.00
Z1177:Igsf5	UTSW	16	96378333	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CAGTGCATCTTCCCAGGTTAG -3'
(R):5'- GCCACCTTGAGGAATTCACC -3'

Sequencing Primer
(F):5'- TCCCAGGTTAGTGTCTCTCAG -3'
(R):5'- CCAAATACTTCTTGGAATACAGGG -3'

Posted On

2019-06-26