Mutagenetix > Incidental Mutation

Incidental Mutation 'R6199:Igsf5'

503123

Institutional Source

Beutler Lab

Gene Symbol

Igsf5

Ensembl Gene

ENSMUSG00000000159

Gene Name

immunoglobulin superfamily, member 5

Synonyms

Igsf5, Jam4

MMRRC Submission

044339-MU

Accession Numbers

Essential gene?

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

Stock #

R6199 (G1)

Quality Score

170.009

Status

Validated

Chromosome

Chromosomal Location

96361668-96525580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 96421739 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 61 (S61L)

Ref Sequence

ENSEMBL: ENSMUSP00000117904 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000161] [ENSMUST00000113773] [ENSMUST00000113794] [ENSMUST00000113795] [ENSMUST00000131567] [ENSMUST00000136292]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000161

SMART Domains

Protein: ENSMUSP00000000161
Gene: ENSMUSG00000000157

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
EGF_like	24	63	3.95e1	SMART
PSI	24	74	2.88e-4	SMART
INB	32	419	7.05e-119	SMART
VWA	126	329	1.16e0	SMART
EGF_like	553	585	4.64e1	SMART
Integrin_B_tail	594	669	1.22e-9	SMART
transmembrane domain	672	694	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113773

SMART Domains

Protein: ENSMUSP00000109403
Gene: ENSMUSG00000000157

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
EGF_like	24	63	3.95e1	SMART
PSI	24	74	2.88e-4	SMART
INB	32	419	7.05e-119	SMART
VWA	126	329	1.16e0	SMART
EGF_like	553	585	4.64e1	SMART
Integrin_B_tail	594	669	1.22e-9	SMART
transmembrane domain	672	694	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113794
AA Change: S341L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109425
Gene: ENSMUSG00000000159
AA Change: S341L

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: ENSMUST00000131567

SMART Domains

Protein: ENSMUSP00000114497
Gene: ENSMUSG00000000157

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
PSI	24	74	2.88e-4	SMART
INB	32	419	7.05e-119	SMART
VWA	126	329	1.16e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131777

Predicted Effect

possibly damaging
Transcript: ENSMUST00000136292
AA Change: S61L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

100% (53/53)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck1	A	T	12: 88,441,117	D206V	possibly damaging	Het
Ank2	T	A	3: 127,004,006	D685V	probably damaging	Het
Baz2b	A	G	2: 59,978,675	S77P	probably benign	Het
C430049E01Rik	T	C	8: 71,525,465	N83D	probably benign	Het
Ceacam5	A	T	7: 17,714,885	T59S	probably benign	Het
Ces1e	A	C	8: 93,217,535	F218L	probably damaging	Het
Cps1	TGTCCATTGGTC	TGTC	1: 67,162,615		probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Eftud2	A	T	11: 102,840,057	V843E	probably damaging	Het
Fuca2	G	T	10: 13,506,039	W232L	probably damaging	Het
Gdf7	T	C	12: 8,298,832	D155G	unknown	Het
Ggcx	G	T	6: 72,430,139	V753F	possibly damaging	Het
Ghrhr	A	T	6: 55,379,188	T89S	probably benign	Het
Gpr151	T	C	18: 42,578,554	K353R	probably benign	Het
Gpr75	T	C	11: 30,891,527	L144P	probably damaging	Het
Gsdmc2	A	G	15: 63,825,113	I403T	probably benign	Het
H2-M1	A	G	17: 36,671,167	S181P	probably benign	Het
Ick	T	C	9: 78,164,639	V531A	probably benign	Het
Insc	A	T	7: 114,791,166		probably null	Het
Izumo4	G	A	10: 80,702,873	G53D	probably damaging	Het
Ksr1	G	A	11: 79,020,441	P693S	possibly damaging	Het
Lgals4	G	A	7: 28,835,892	R27H	probably damaging	Het
Lpcat2b	A	G	5: 107,433,305	R167G	probably benign	Het
Man1a	C	T	10: 54,014,456	V288I	possibly damaging	Het
Map2	T	G	1: 66,425,478	S1676A	probably damaging	Het
Mbl1	G	T	14: 41,153,615	V9F	unknown	Het
Mrgprb8	T	A	7: 48,389,303	C241S	probably benign	Het
Mrpl2	T	C	17: 46,649,086	L227P	probably damaging	Het
Mthfd1	T	A	12: 76,288,911	V253E	probably damaging	Het
Mthfd1	A	G	12: 76,303,680	H464R	probably damaging	Het
Mug2	T	A	6: 122,047,439	M490K	probably benign	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Notch1	A	G	2: 26,469,899	V1268A	probably damaging	Het
Olfr1415	A	T	1: 92,491,542	I71N	possibly damaging	Het
Olfr876	C	A	9: 37,804,881		probably null	Het
Pgm2	A	T	4: 99,978,954	I412F	probably damaging	Het
Plaur	A	T	7: 24,465,203	Q44L	possibly damaging	Het
Ppara	T	C	15: 85,787,233	Y112H	probably damaging	Het
Ppm1h	G	A	10: 122,920,739	V430M	probably damaging	Het
Prpf40a	T	C	2: 53,157,915	M197V	probably benign	Het
Prph	A	G	15: 99,056,832	T35A	probably benign	Het
Prrc2c	C	T	1: 162,682,516	G780S	probably damaging	Het
Ptchd3	T	A	11: 121,831,082	N260K	probably benign	Het
Ptprz1	A	G	6: 23,002,471	D1520G	probably benign	Het
Samd9l	T	A	6: 3,376,686	I192L	probably benign	Het
Slc39a10	T	C	1: 46,835,833	D103G	probably damaging	Het
Smndc1	G	A	19: 53,383,632	T117M	probably benign	Het
Tesk2	A	G	4: 116,792,170	D159G	probably damaging	Het
Tmem2	G	A	19: 21,844,822	G1194S	probably benign	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Vmn2r108	A	T	17: 20,462,382	N853K	probably benign	Het
Wdfy3	C	T	5: 101,872,965	R2491Q	possibly 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
R6298:Igsf5	UTSW	16	96396448	missense	possibly damaging	0.93
R7164:Igsf5	UTSW	16	96372848	missense	possibly damaging	0.85
R7197:Igsf5	UTSW	16	96403346	missense	probably damaging	1.00
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'- AGAGAAACACAGGCATGCTC -3'
(R):5'- TCACCAGTGAGTTCTAGGGAC -3'

Sequencing Primer
(F):5'- ACACAGGCATGCTCATTCTC -3'
(R):5'- TGGACTCTCAGGATTCAAGTCAC -3'

Posted On

2018-02-27