Mutagenetix > Incidental Mutation

Incidental Mutation 'R5950:Igsf5'

472415

Institutional Source

Beutler Lab

Gene Symbol

Igsf5

Ensembl Gene

ENSMUSG00000000159

Gene Name

immunoglobulin superfamily, member 5

Synonyms

Igsf5, Jam4

MMRRC Submission

044140-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R5950 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96361668-96525580 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96372872 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 34 (V34A)

Ref Sequence

ENSEMBL: ENSMUSP00000109425 (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: V34A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000000163
Gene: ENSMUSG00000000159
AA Change: V34A

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: V34A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000079874
Gene: ENSMUSG00000000159
AA Change: V34A

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: V34A

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109425
Gene: ENSMUSG00000000159
AA Change: V34A

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: V34A

SMART Domains

Protein: ENSMUSP00000109426
Gene: ENSMUSG00000000159
AA Change: V34A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

93% (75/81)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930539E08Rik	T	A	17: 28,905,755	Q256L	possibly damaging	Het
Abca15	G	A	7: 120,382,656	G1065R	probably damaging	Het
Acox2	A	T	14: 8,255,793	Y113N	probably benign	Het
Arid4b	T	A	13: 14,191,264		probably benign	Het
Atf6	C	T	1: 170,834,879	G271R	probably damaging	Het
Cct8l1	C	A	5: 25,517,743	F485L	probably benign	Het
Cdk5r2	A	G	1: 74,855,402	E102G	probably damaging	Het
Celsr1	A	T	15: 86,032,500	V424E	probably damaging	Het
Ces1h	T	C	8: 93,362,959	T271A	probably benign	Het
Cfap44	T	C	16: 44,479,847	I1738T	probably damaging	Het
Cntnap3	G	A	13: 64,787,769	L427F	probably damaging	Het
Crybg3	T	C	16: 59,493,571		probably benign	Het
Dis3l2	A	G	1: 87,021,108	D589G	probably damaging	Het
Dlg1	A	G	16: 31,665,583	R10G	probably damaging	Het
Dnajc1	A	C	2: 18,306,941		probably benign	Het
Dpy19l2	T	A	9: 24,581,134	T723S	probably benign	Het
Dsg3	A	T	18: 20,538,529	N764Y	probably damaging	Het
Dst	G	T	1: 34,262,060	R3654L	probably damaging	Het
Evl	C	T	12: 108,675,553	T198I	probably benign	Het
Hectd2	A	G	19: 36,597,239		probably benign	Het
Hsp90b1	A	G	10: 86,701,745	V232A	possibly damaging	Het
Ikzf2	A	T	1: 69,683,244	N41K	probably damaging	Het
Kif6	G	T	17: 49,715,088	A339S	probably damaging	Het
Klhl1	T	A	14: 96,240,354	D426V	probably damaging	Het
Knop1	A	C	7: 118,853,334	V54G	probably damaging	Het
Lama4	T	A	10: 39,030,448	V270D	probably benign	Het
Lnx2	A	G	5: 147,024,350		probably null	Het
Lrp5	A	T	19: 3,602,333	V1179E	probably benign	Het
Lrpprc	T	G	17: 84,740,170	D878A	possibly damaging	Het
Lrrc14	A	T	15: 76,715,310		probably benign	Het
Ltbp1	A	T	17: 75,273,870	D660V	probably damaging	Het
Macf1	C	G	4: 123,439,436		probably null	Het
Map3k21	C	A	8: 125,941,760	T695K	possibly damaging	Het
Mcm3ap	T	A	10: 76,488,419	D895E	possibly damaging	Het
Mfsd7a	A	T	5: 108,445,485	H162Q	probably damaging	Het
Mink1	T	A	11: 70,609,586	D779E	possibly damaging	Het
Mkrn3	T	C	7: 62,419,719	E108G	probably damaging	Het
Nars	A	G	18: 64,510,485	V141A	possibly damaging	Het
Olfr954	T	C	9: 39,462,337	V299A	probably benign	Het
Pard3b	T	A	1: 62,216,531	Y572N	probably benign	Het
Pcnx3	A	C	19: 5,667,158	M1599R	possibly damaging	Het
Pitx2	A	G	3: 129,218,520	S180G	probably damaging	Het
Pkd2l1	A	C	19: 44,152,090	V608G	probably benign	Het
Pkhd1l1	A	G	15: 44,532,965	D1961G	probably benign	Het
Pxylp1	T	C	9: 96,839,126	T109A	probably damaging	Het
Rai1	T	A	11: 60,187,593	C828S	probably damaging	Het
Ralgapa1	T	A	12: 55,738,265	T737S	possibly damaging	Het
Scn11a	A	G	9: 119,811,124	V235A	probably damaging	Het
Sfxn1	A	T	13: 54,091,287	T134S	probably benign	Het
Skint1	A	G	4: 112,019,335	Y151C	probably benign	Het
Slc11a1	G	T	1: 74,377,176	W54L	probably benign	Het
Soga3	T	C	10: 29,143,648		probably benign	Het
Synpo2l	T	A	14: 20,665,935	Q191L	probably benign	Het
Tank	A	G	2: 61,653,569		probably benign	Het
Tctex1d1	T	G	4: 103,004,250	L147R	probably damaging	Het
Terb1	A	T	8: 104,488,485		probably null	Het
Trdc	T	C	14: 54,144,311		probably benign	Het
Tsen34	A	G	7: 3,694,788	I63V	probably null	Het
Ust	T	C	10: 8,248,101	H257R	probably benign	Het
Vmn2r6	T	C	3: 64,565,231	Q23R	probably benign	Het
Wdr93	A	T	7: 79,773,431	H481L	probably damaging	Het
Xirp2	A	G	2: 67,511,320	T1302A	possibly damaging	Het
Zc3h6	C	A	2: 128,997,790	Y174*	probably null	Het
Zcchc7	T	G	4: 44,931,244	D144E	possibly damaging	Het
Zfp472	T	A	17: 32,977,507	H185Q	possibly damaging	Het
Zfp523	C	A	17: 28,202,558	P66H	probably benign	Het
Zfp712	A	T	13: 67,044,817	L57Q	probably damaging	Het
Zik1	G	A	7: 10,490,571	Q200*	probably null	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
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'- TGGCCATGTGTCTACCAGAAG -3'
(R):5'- CTCCGAGATGAAGCTGTCAG -3'

Sequencing Primer
(F):5'- GCCATGTGTCTACCAGAAGTCCTG -3'
(R):5'- AAGCTGTCAGTGCTGTTGTAAC -3'

Posted On

2017-03-31