Mutagenetix > Incidental Mutation

Incidental Mutation 'R1446:Skint4'

158855

Institutional Source

Beutler Lab

Gene Symbol

Skint4

Ensembl Gene

ENSMUSG00000055960

Gene Name

selection and upkeep of intraepithelial T cells 4

Synonyms

9530098N22Rik

MMRRC Submission

039501-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R1446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111929213-112025273 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 111975311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 82 (H82Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102175 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069769] [ENSMUST00000106564] [ENSMUST00000106565] [ENSMUST00000106566]

AlphaFold

A7TZF3

Predicted Effect

probably benign
Transcript: ENSMUST00000069769
AA Change: H82Q

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000070676
Gene: ENSMUSG00000055960
AA Change: H82Q

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106564
AA Change: H82Q

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102174
Gene: ENSMUSG00000055960
AA Change: H82Q

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106565
AA Change: H82Q

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102175
Gene: ENSMUSG00000055960
AA Change: H82Q

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
IG	33	140	7.24e-10	SMART
Pfam:C2-set_2	141	227	6.2e-8	PFAM
transmembrane domain	242	264	N/A	INTRINSIC
transmembrane domain	296	318	N/A	INTRINSIC
transmembrane domain	342	364	N/A	INTRINSIC
transmembrane domain	383	405	N/A	INTRINSIC
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106566
AA Change: H90Q

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000102176
Gene: ENSMUSG00000055960
AA Change: H90Q

Domain	Start	End	E-Value	Type
IG	41	148	7.24e-10	SMART
transmembrane domain	250	272	N/A	INTRINSIC
transmembrane domain	304	326	N/A	INTRINSIC
transmembrane domain	350	372	N/A	INTRINSIC
transmembrane domain	391	413	N/A	INTRINSIC
transmembrane domain	433	455	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119233

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.3%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	T	5: 77,034,136 (GRCm39)	A472T	probably benign	Het
Adcy4	A	T	14: 56,007,480 (GRCm39)		probably null	Het
Ahcyl2	T	C	6: 29,891,239 (GRCm39)	S448P	probably damaging	Het
Anks1b	A	G	10: 90,346,935 (GRCm39)	Y745C	probably benign	Het
Anxa1	A	T	19: 20,351,103 (GRCm39)	L339Q	probably damaging	Het
Apoa4	A	G	9: 46,153,591 (GRCm39)	D64G	probably benign	Het
Arpc1a	A	G	5: 145,037,896 (GRCm39)		probably null	Het
Bank1	C	T	3: 135,769,904 (GRCm39)	G727R	probably damaging	Het
Best2	T	C	8: 85,734,593 (GRCm39)	Q375R	probably benign	Het
Cacna1b	T	A	2: 24,596,189 (GRCm39)	M501L	probably benign	Het
Col27a1	T	A	4: 63,143,040 (GRCm39)	Y243N	probably damaging	Het
Cyp11a1	A	T	9: 57,922,560 (GRCm39)	Q80L	possibly damaging	Het
Dnah10	T	A	5: 124,866,860 (GRCm39)	W2260R	probably damaging	Het
Dnajc19	T	C	3: 34,112,128 (GRCm39)	H139R	probably benign	Het
Dppa5a	T	A	9: 78,275,071 (GRCm39)	N77I	probably benign	Het
Edc4	T	C	8: 106,614,764 (GRCm39)	S125P	probably damaging	Het
Eid2	T	C	7: 27,968,014 (GRCm39)	I212T	possibly damaging	Het
Fam234b	T	A	6: 135,186,328 (GRCm39)		probably null	Het
Frem2	T	C	3: 53,562,017 (GRCm39)	E830G	probably benign	Het
Fyb1	A	T	15: 6,681,947 (GRCm39)	I765L	probably benign	Het
Fyn	T	G	10: 39,398,775 (GRCm39)	S124A	probably benign	Het
Gal3st3	T	A	19: 5,356,939 (GRCm39)	F105I	probably damaging	Het
Gpr146	A	G	5: 139,379,177 (GRCm39)	I326M	probably benign	Het
Grk2	G	A	19: 4,337,437 (GRCm39)	R617C	possibly damaging	Het
Gsn	A	G	2: 35,196,598 (GRCm39)	K669R	probably benign	Het
H2-T10	A	T	17: 36,430,266 (GRCm39)	I225N	possibly damaging	Het
Il12rb2	T	C	6: 67,286,127 (GRCm39)	H106R	probably benign	Het
Kat14	A	G	2: 144,215,638 (GRCm39)	E41G	probably damaging	Het
Kcnma1	G	T	14: 23,361,792 (GRCm39)	T1006K	probably damaging	Het
Kif18b	G	A	11: 102,805,525 (GRCm39)	T244I	probably damaging	Het
Klb	A	T	5: 65,506,338 (GRCm39)	H195L	probably damaging	Het
Lrriq4	T	C	3: 30,704,727 (GRCm39)	F252L	probably benign	Het
Lum	C	T	10: 97,404,252 (GRCm39)	T49I	possibly damaging	Het
Map3k4	T	A	17: 12,475,681 (GRCm39)	L84*	probably null	Het
Mindy2	A	G	9: 70,514,738 (GRCm39)		probably null	Het
Mpped2	G	T	2: 106,614,077 (GRCm39)	R137L	possibly damaging	Het
Myo18b	G	A	5: 112,905,425 (GRCm39)	R2058W	probably damaging	Het
Nol8	T	A	13: 49,808,703 (GRCm39)	L65Q	probably damaging	Het
Or11g27	T	C	14: 50,771,159 (GRCm39)	S97P	possibly damaging	Het
Or4c108	A	G	2: 88,804,109 (GRCm39)	I42T	probably benign	Het
Or4x6	A	T	2: 89,949,202 (GRCm39)	L247M	probably damaging	Het
Or5b105	G	A	19: 13,080,380 (GRCm39)	A96V	possibly damaging	Het
Or5g9	A	G	2: 85,551,917 (GRCm39)	H56R	probably damaging	Het
Or8b3	T	G	9: 38,314,601 (GRCm39)	C144G	possibly damaging	Het
Or9a4	C	T	6: 40,548,833 (GRCm39)	S171L	probably benign	Het
Parp12	G	T	6: 39,079,495 (GRCm39)	D338E	probably benign	Het
Pde6d	T	C	1: 86,474,414 (GRCm39)	E77G	probably damaging	Het
Phkg1	A	C	5: 129,902,055 (GRCm39)		probably null	Het
Pigw	A	C	11: 84,769,186 (GRCm39)	S48A	probably benign	Het
Pkm	T	A	9: 59,576,193 (GRCm39)		probably null	Het
Ppp1r3f	G	A	X: 7,426,602 (GRCm39)	T553M	probably damaging	Het
Retreg2	T	A	1: 75,120,103 (GRCm39)	F44L	possibly damaging	Het
Ryr2	A	T	13: 11,753,035 (GRCm39)	M1762K	probably benign	Het
Sec16a	A	G	2: 26,313,579 (GRCm39)	V1927A	probably benign	Het
Sec23a	G	T	12: 59,025,345 (GRCm39)	A492E	probably damaging	Het
Srbd1	T	C	17: 86,446,580 (GRCm39)	K60E	probably benign	Het
Stk24	A	G	14: 121,545,456 (GRCm39)	Y101H	probably damaging	Het
Sult1e1	A	T	5: 87,726,396 (GRCm39)	N239K	probably damaging	Het
Tgs1	C	T	4: 3,604,848 (GRCm39)	P757S	probably damaging	Het
Tmc2	A	T	2: 130,090,650 (GRCm39)	E665D	probably damaging	Het
Tmprss15	C	A	16: 78,875,846 (GRCm39)	D163Y	probably benign	Het
Unc13a	C	A	8: 72,101,625 (GRCm39)	V1009L	possibly damaging	Het
Unc45b	G	T	11: 82,819,496 (GRCm39)	G490C	probably damaging	Het
Vmn1r177	T	A	7: 23,565,765 (GRCm39)	H37L	probably damaging	Het
Vwa5a	A	G	9: 38,645,264 (GRCm39)	M450V	possibly damaging	Het
Wars2	T	C	3: 99,094,843 (GRCm39)	I46T	probably benign	Het
Wdfy3	G	T	5: 101,999,176 (GRCm39)	T3098K	possibly damaging	Het
Zan	A	T	5: 137,387,622 (GRCm39)	I4863N	unknown	Het
Zfp616	A	G	11: 73,974,064 (GRCm39)		probably null	Het
Zfp770	A	T	2: 114,027,514 (GRCm39)	I185N	probably damaging	Het
Zfp808	T	G	13: 62,320,821 (GRCm39)	H683Q	probably damaging	Het
Zmym4	A	T	4: 126,776,275 (GRCm39)	W1221R	probably damaging	Het

Other mutations in Skint4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Skint4	APN	4	111,977,207 (GRCm39)	missense	possibly damaging	0.86
IGL01654:Skint4	APN	4	111,977,254 (GRCm39)	missense	probably damaging	0.99
IGL02040:Skint4	APN	4	112,003,679 (GRCm39)	splice site	probably benign
IGL02328:Skint4	APN	4	111,977,255 (GRCm39)	missense	possibly damaging	0.92
IGL02811:Skint4	APN	4	111,944,200 (GRCm39)	missense	possibly damaging	0.86
IGL02965:Skint4	APN	4	111,993,218 (GRCm39)	missense	probably benign	0.01
IGL03039:Skint4	APN	4	111,981,847 (GRCm39)	missense	probably benign	0.20
IGL03060:Skint4	APN	4	111,975,432 (GRCm39)	missense	probably benign	0.33
IGL03075:Skint4	APN	4	111,944,239 (GRCm39)	missense	probably damaging	1.00
IGL03352:Skint4	APN	4	112,022,883 (GRCm39)	missense	possibly damaging	0.96
PIT4378001:Skint4	UTSW	4	111,944,232 (GRCm39)	missense	probably benign	0.01
R0483:Skint4	UTSW	4	111,975,136 (GRCm39)	splice site	probably benign
R1175:Skint4	UTSW	4	111,981,793 (GRCm39)	missense	probably benign	0.14
R1641:Skint4	UTSW	4	111,993,240 (GRCm39)	missense	possibly damaging	0.93
R1983:Skint4	UTSW	4	112,003,689 (GRCm39)	missense	probably benign	0.00
R2168:Skint4	UTSW	4	111,944,183 (GRCm39)	critical splice acceptor site	probably null
R2272:Skint4	UTSW	4	111,977,065 (GRCm39)	missense	probably benign	0.01
R2287:Skint4	UTSW	4	111,975,402 (GRCm39)	missense	possibly damaging	0.70
R3801:Skint4	UTSW	4	111,975,378 (GRCm39)	missense	probably damaging	0.98
R3802:Skint4	UTSW	4	111,975,378 (GRCm39)	missense	probably damaging	0.98
R3804:Skint4	UTSW	4	111,975,378 (GRCm39)	missense	probably damaging	0.98
R4009:Skint4	UTSW	4	111,977,306 (GRCm39)	missense	possibly damaging	0.70
R4050:Skint4	UTSW	4	111,981,811 (GRCm39)	missense	probably benign	0.01
R4564:Skint4	UTSW	4	111,977,066 (GRCm39)	missense	probably damaging	0.99
R4581:Skint4	UTSW	4	111,944,239 (GRCm39)	missense	probably damaging	1.00
R4587:Skint4	UTSW	4	111,944,221 (GRCm39)	missense	probably damaging	0.99
R4674:Skint4	UTSW	4	111,975,430 (GRCm39)	missense	probably damaging	1.00
R4723:Skint4	UTSW	4	111,975,433 (GRCm39)	missense	possibly damaging	0.70
R4753:Skint4	UTSW	4	112,003,728 (GRCm39)	missense	probably benign	0.00
R4775:Skint4	UTSW	4	111,993,261 (GRCm39)	missense	probably damaging	0.97
R4832:Skint4	UTSW	4	112,000,963 (GRCm39)	missense	possibly damaging	0.49
R5299:Skint4	UTSW	4	111,993,203 (GRCm39)	missense	possibly damaging	0.59
R6118:Skint4	UTSW	4	111,977,019 (GRCm39)	splice site	probably null
R6433:Skint4	UTSW	4	112,003,707 (GRCm39)	missense	probably benign	0.00
R6616:Skint4	UTSW	4	111,975,427 (GRCm39)	missense	possibly damaging	0.70
R6698:Skint4	UTSW	4	111,977,096 (GRCm39)	missense	probably damaging	1.00
R6752:Skint4	UTSW	4	111,977,060 (GRCm39)	missense	possibly damaging	0.89
R7034:Skint4	UTSW	4	112,015,281 (GRCm39)	missense	possibly damaging	0.53
R7102:Skint4	UTSW	4	111,975,298 (GRCm39)	missense	probably damaging	1.00
R7602:Skint4	UTSW	4	111,975,468 (GRCm39)	missense	possibly damaging	0.50
R8027:Skint4	UTSW	4	112,015,182 (GRCm39)	critical splice acceptor site	probably null
R8038:Skint4	UTSW	4	111,977,003 (GRCm39)	intron	probably benign
R8147:Skint4	UTSW	4	111,993,218 (GRCm39)	missense	probably benign	0.06
R8375:Skint4	UTSW	4	111,975,173 (GRCm39)	missense	probably damaging	0.98
R8682:Skint4	UTSW	4	111,993,237 (GRCm39)	missense	possibly damaging	0.86
R8695:Skint4	UTSW	4	111,975,264 (GRCm39)	missense	probably damaging	1.00
R9068:Skint4	UTSW	4	112,022,932 (GRCm39)	missense	possibly damaging	0.93
R9361:Skint4	UTSW	4	112,001,021 (GRCm39)	missense	probably damaging	0.99
R9516:Skint4	UTSW	4	112,015,236 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- TCTATAAGTGGCTCAGCACCTCCC -3'
(R):5'- GAGGAATTCATGCCTACCTGTGACC -3'

Sequencing Primer
(F):5'- GCACCTCCCATATGTCCTGAAG -3'
(R):5'- GACCTTGACCTCTGTGATATGC -3'

Posted On

2014-03-14