Mutagenetix > Incidental Mutation

Incidental Mutation 'R2508:Igsf5'

251634

Institutional Source

Beutler Lab

Gene Symbol

Igsf5

Ensembl Gene

ENSMUSG00000000159

Gene Name

immunoglobulin superfamily, member 5

Synonyms

Igsf5, Jam4

MMRRC Submission

040414-MU

Accession Numbers

Essential gene?

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

Stock #

R2508 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

96361668-96525580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96364047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 7 (D7E)

Ref Sequence

ENSEMBL: ENSMUSP00000079874 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000000163
AA Change: D7E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000000163
Gene: ENSMUSG00000000159
AA Change: D7E

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: ENSMUST00000081093
AA Change: D7E

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000079874
Gene: ENSMUSG00000000159
AA Change: D7E

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
AA Change: D7E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000109425
Gene: ENSMUSG00000000159
AA Change: D7E

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

unknown
Transcript: ENSMUST00000113795
AA Change: D7E

SMART Domains

Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159
AA Change: D7E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

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: 110 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	C	T	8: 120,145,393	T20I	probably benign	Het
Adamts2	C	T	11: 50,788,689	T832I	possibly damaging	Het
Agbl1	G	A	7: 76,589,550		probably null	Het
Ankrd61	T	C	5: 143,897,076		probably benign	Het
Anpep	T	G	7: 79,838,291	Y506S	possibly damaging	Het
Aox2	T	A	1: 58,343,673	H1037Q	probably benign	Het
Auh	G	A	13: 52,898,719	R47*	probably null	Het
B4galt5	T	A	2: 167,306,638	M187L	probably benign	Het
Bub1	A	T	2: 127,801,423	D1000E	probably benign	Het
Cacna1f	T	G	X: 7,626,448		probably null	Het
Cdh3	T	C	8: 106,552,407	L667P	probably damaging	Het
Cenpe	A	T	3: 135,241,073	R1116S	possibly damaging	Het
Ces1b	T	A	8: 93,073,341	M136L	possibly damaging	Het
Cfap54	T	C	10: 92,997,374	E1130G	possibly damaging	Het
Chd9	C	T	8: 91,033,987	P2120L	probably benign	Het
Clu	T	C	14: 65,975,003	V135A	probably damaging	Het
Cmip	T	A	8: 117,436,693	S388T	probably benign	Het
Cnga1	C	T	5: 72,619,061	V20I	possibly damaging	Het
Cox4i1	T	A	8: 120,673,290	V51E	possibly damaging	Het
Crym	T	C	7: 120,201,827	N33S	probably benign	Het
Ctcf	T	A	8: 105,671,384	V434E	probably damaging	Het
D430042O09Rik	T	A	7: 125,795,343	V197D	probably benign	Het
Daam1	G	A	12: 71,975,223	D732N	probably damaging	Het
Dcaf13	A	G	15: 39,145,152	Y383C	probably benign	Het
Dock2	T	C	11: 34,312,485	T957A	probably benign	Het
Duox1	A	G	2: 122,333,138	D817G	probably benign	Het
Fads3	A	G	19: 10,056,454	Y401C	probably damaging	Het
Fam72a	T	C	1: 131,528,854		probably null	Het
Fbxw21	C	A	9: 109,145,485	K322N	probably benign	Het
Fdxr	G	A	11: 115,271,980	T100I	probably damaging	Het
Galnt11	C	G	5: 25,247,612	P41A	probably damaging	Het
Glb1l	T	C	1: 75,201,829	T322A	probably damaging	Het
Gm6803	T	C	12: 88,018,488	Y95C	probably damaging	Het
Gm6871	T	A	7: 41,547,990	T149S	probably benign	Het
Gpr26	C	T	7: 131,967,094	T56I	probably damaging	Het
Grik4	C	A	9: 42,622,142	G361C	probably damaging	Het
Gsr	T	G	8: 33,680,288	D200E	probably benign	Het
Inpp5e	T	A	2: 26,399,343	I522F	probably damaging	Het
Insm2	C	A	12: 55,600,311	T280K	probably benign	Het
Itih4	T	C	14: 30,895,478	V585A	probably damaging	Het
Knl1	A	T	2: 119,058,368	R17*	probably null	Het
Lag3	G	T	6: 124,911,309	L15I	possibly damaging	Het
Lepr	T	A	4: 101,790,896	S861T	probably damaging	Het
Mcur1	A	T	13: 43,544,465	Y320N	probably damaging	Het
Mgam	A	T	6: 40,759,783	D872V	probably damaging	Het
Mlycd	T	C	8: 119,407,707		probably null	Het
Mpl	C	A	4: 118,455,757	C193F	probably damaging	Het
Mycbp2	C	A	14: 103,131,245	A4142S	probably damaging	Het
Myh1	T	A	11: 67,213,598	D993E	possibly damaging	Het
N4bp2	T	A	5: 65,790,061	D11E	probably benign	Het
Neb	T	C	2: 52,195,521	I1521V	probably benign	Het
Notch1	A	G	2: 26,465,473	V1744A	possibly damaging	Het
Numa1	T	C	7: 101,995,524	S236P	possibly damaging	Het
Olfr1056	A	G	2: 86,356,364	L6P	possibly damaging	Het
Olfr1181	T	C	2: 88,423,456	T190A	possibly damaging	Het
Olfr798	T	A	10: 129,625,915	I49L	probably benign	Het
Otogl	A	G	10: 107,874,500	L576P	probably damaging	Het
P2ry1	C	T	3: 61,003,479	T13M	probably damaging	Het
Pak6	A	T	2: 118,694,569	R559*	probably null	Het
Papd4	A	G	13: 93,184,218	L109S	probably damaging	Het
Parvb	A	T	15: 84,297,970	M234L	probably benign	Het
Pcdha11	T	C	18: 37,012,854	V666A	possibly damaging	Het
Pde3b	T	A	7: 114,526,857	Y775*	probably null	Het
Pgam5	A	G	5: 110,266,003	L98P	probably damaging	Het
Phip	T	C	9: 82,915,339	H537R	possibly damaging	Het
Pkib	T	G	10: 57,728,109	D4E	probably damaging	Het
Plcb1	A	T	2: 135,260,508	I202F	probably benign	Het
Pold3	A	G	7: 100,121,383	V14A	probably damaging	Het
Prdm1	T	A	10: 44,446,807	T249S	probably benign	Het
Prpf39	T	A	12: 65,057,815	F551L	probably benign	Het
Prune2	A	G	19: 17,122,622	E1830G	probably benign	Het
Ralgapa1	G	A	12: 55,718,201	P889S	probably damaging	Het
Rassf2	A	T	2: 131,998,243		probably null	Het
Rnf185	A	G	11: 3,418,067	Y204H	probably benign	Het
Rpap1	A	G	2: 119,780,054		probably null	Het
Rufy3	T	C	5: 88,649,898	S645P	probably damaging	Het
Scn11a	T	A	9: 119,765,529	Y1266F	probably damaging	Het
Senp7	T	A	16: 56,151,362	H287Q	probably benign	Het
Sgsm3	T	C	15: 81,003,872		probably null	Het
Slc25a11	A	T	11: 70,645,832	V104E	possibly damaging	Het
Slc25a13	G	A	6: 6,117,190	T175I	probably benign	Het
Slc26a3	T	A	12: 31,470,903	F702Y	probably damaging	Het
Smco2	T	A	6: 146,859,967	L184H	probably damaging	Het
Ssc4d	A	T	5: 135,965,607	C90S	probably damaging	Het
Sspo	T	C	6: 48,464,364	S1835P	probably damaging	Het
Stk35	A	G	2: 129,801,515	T140A	probably damaging	Het
Syngr1	C	T	15: 80,111,740	T160M	probably damaging	Het
Tgfb1i1	A	G	7: 128,248,913		probably null	Het
Thoc1	T	A	18: 9,977,947	V296E	probably damaging	Het
Timp2	C	T	11: 118,310,586	C75Y	probably damaging	Het
Tlr1	T	C	5: 64,925,296	Y646C	probably damaging	Het
Tprn	G	A	2: 25,268,928	E655K	possibly damaging	Het
Trbv14	A	C	6: 41,135,490	I74L	probably benign	Het
Trbv5	T	A	6: 41,062,621	Y53*	probably null	Het
Trpm5	T	C	7: 143,088,919	Q97R	possibly damaging	Het
Tut1	A	G	19: 8,955,567	D88G	probably damaging	Het
Ucp2	A	T	7: 100,498,413	I200F	probably benign	Het
Unc45a	G	A	7: 80,338,875	S131L	probably benign	Het
Uty	A	T	Y: 1,158,182	H573Q	probably damaging	Het
Vmn1r17	T	A	6: 57,360,870	Y121F	possibly damaging	Het
Vmn1r53	T	C	6: 90,223,572	I257V	probably benign	Het
Vmn2r90	C	T	17: 17,733,967	L798F	probably damaging	Het
Vmn2r94	A	T	17: 18,257,474	M225K	probably benign	Het
Wdr24	A	T	17: 25,824,299	I32F	possibly damaging	Het
Zc3h11a	T	A	1: 133,624,783	T529S	probably benign	Het
Zc3h4	A	G	7: 16,434,339	H791R	unknown	Het
Zfp24	A	G	18: 24,017,870	L73P	probably damaging	Het
Zfp616	T	C	11: 74,083,295	I130T	probably benign	Het
Zim1	ACAGCAG	ACAGCAGCAG	7: 6,677,430		probably benign	Het
Zim1	CAG	CAGAAG	7: 6,677,431		probably benign	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
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
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'- TGGCCCCAAAATGCATACTCTG -3'
(R):5'- AAGGATTGCCTATAGGGGTGAC -3'

Sequencing Primer
(F):5'- CAGTAGATCCTCTTGGCT -3'
(R):5'- AGTACCTGAGGAGGACCACC -3'

Posted On

2014-12-04