Mutagenetix > Incidental Mutation

Incidental Mutation 'R6164:Gulp1'

490016

Institutional Source

Beutler Lab

Gene Symbol

Gulp1

Ensembl Gene

ENSMUSG00000056870

Gene Name

GULP, engulfment adaptor PTB domain containing 1

Synonyms

3110030A04Rik, GULP, CED-6, Ced6, 5730529O06Rik

MMRRC Submission

044310-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R6164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44551511-44796838 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 44754351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 57 (R57S)

Ref Sequence

ENSEMBL: ENSMUSP00000125506 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074525] [ENSMUST00000159555] [ENSMUST00000160854] [ENSMUST00000162600]

AlphaFold

Q8K2A1

Predicted Effect

probably damaging
Transcript: ENSMUST00000074525
AA Change: R57S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000074115
Gene: ENSMUSG00000056870
AA Change: R57S

Domain	Start	End	E-Value	Type
PTB	22	158	1.11e-38	SMART
coiled coil region	159	202	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000159555
AA Change: T37P

Predicted Effect

probably damaging
Transcript: ENSMUST00000160854
AA Change: R57S

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125506
Gene: ENSMUSG00000056870
AA Change: R57S

Domain	Start	End	E-Value	Type
PTB	22	158	1.11e-38	SMART
coiled coil region	159	202	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161793

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162600
AA Change: R57S

PolyPhen 2 Score 0.456 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000124756
Gene: ENSMUSG00000056870
AA Change: R57S

Domain	Start	End	E-Value	Type
PTB	22	158	1.11e-38	SMART
coiled coil region	178	210	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194594

Meta Mutation Damage Score

0.1402

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

98% (61/62)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an adapter protein necessary for the engulfment of apoptotic cells by phagocytes. Several transcript variants, some protein coding and some thought not to be protein coding, have been found for this gene. [provided by RefSeq, Nov 2011]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030419C18Rik	C	A	9: 58,499,247	P147T	probably damaging	Het
Anpep	A	G	7: 79,842,205	I16T	possibly damaging	Het
Ap1s1	T	C	5: 137,037,386		probably benign	Het
Atp1a2	T	C	1: 172,278,892	S848G	probably damaging	Het
Bche	T	A	3: 73,701,056	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,823,633	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,953,383	M416V	probably damaging	Het
Cdk17	T	C	10: 93,235,469	S351P	probably benign	Het
Cfap100	T	C	6: 90,415,786	E114G	probably benign	Het
Clec4a4	T	C	6: 122,991,874	I66T	possibly damaging	Het
Cpeb4	T	C	11: 31,920,584		probably null	Het
Cybrd1	T	C	2: 71,118,274	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,343	I2942L	probably benign	Het
Ehd4	C	T	2: 120,102,208	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 63,872,344		probably benign	Het
Exoc4	T	A	6: 33,332,283	M280K	probably damaging	Het
Fam122a	T	A	19: 24,477,086	M91L	probably benign	Het
Fam71e2	T	C	7: 4,770,678	T73A	probably damaging	Het
Fmo1	T	G	1: 162,851,410	E89A	probably benign	Het
Foxm1	A	G	6: 128,373,935	D733G	probably benign	Het
Gm10093	T	C	17: 78,492,287	S236P	probably damaging	Het
Hdac4	G	T	1: 92,030,154	A46E	probably benign	Het
Hspg2	T	C	4: 137,514,655	S567P	possibly damaging	Het
Iqgap1	A	C	7: 80,809,106	C21W	unknown	Het
Isoc2a	T	C	7: 4,891,489	L57P	probably damaging	Het
Krt34	G	A	11: 100,038,446	Q313*	probably null	Het
Krt6a	C	T	15: 101,692,573	V263I	probably damaging	Het
Man2a1	A	G	17: 64,733,724	I106V	possibly damaging	Het
Muc16	T	C	9: 18,558,379	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,863,345	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,662,240	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,245,410		probably null	Het
Nlrp4c	T	C	7: 6,092,508	L795P	probably damaging	Het
Nup160	T	A	2: 90,717,876	Y984*	probably null	Het
Nwd1	C	T	8: 72,662,186	R81W	probably damaging	Het
Olfr472	A	G	7: 107,903,388	T224A	probably benign	Het
Olfr707	G	T	7: 106,891,928	Y60*	probably null	Het
Osmr	A	G	15: 6,860,352	V5A	probably benign	Het
Pcsk5	A	G	19: 17,836,953		probably null	Het
Pex11a	G	A	7: 79,737,379	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,551,973	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715		probably benign	Het
Ppp2r2d	T	C	7: 138,873,013	I41T	probably damaging	Het
Prdm1	C	T	10: 44,450,195	R126H	probably damaging	Het
Primpol	C	T	8: 46,586,442	R381H	probably benign	Het
Prl7a1	C	A	13: 27,637,643	Q102H	probably benign	Het
Rbpjl	T	C	2: 164,410,879	L284P	probably damaging	Het
Rgs21	A	T	1: 144,541,297	C6S	probably benign	Het
Rnasel	T	C	1: 153,754,392	V218A	probably benign	Het
Sag	G	T	1: 87,824,453	V223L	probably damaging	Het
Sdk1	C	T	5: 142,132,069	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,679,860	V679M	probably damaging	Het
Sele	T	A	1: 164,051,817		probably null	Het
Senp7	T	A	16: 56,169,754	L622M	probably damaging	Het
Sgo1	G	A	17: 53,676,953	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,706,246	V866L	probably benign	Het
Snrnp25	T	A	11: 32,207,647	V75D	probably benign	Het
Syne1	C	T	10: 5,061,429	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,564,582	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,926,055	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,274,402	R235*	probably null	Het
Wnk4	C	T	11: 101,275,068	A807V	possibly damaging	Het

Other mutations in Gulp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01446:Gulp1	APN	1	44744548	splice site	probably benign
IGL02439:Gulp1	APN	1	44781004	missense	probably damaging	0.96
IGL03410:Gulp1	APN	1	44708617	missense	probably damaging	0.97
guzzle	UTSW	1	44708669	nonsense	probably null
R1746:Gulp1	UTSW	1	44754353	missense	possibly damaging	0.81
R1990:Gulp1	UTSW	1	44766114	missense	possibly damaging	0.92
R4166:Gulp1	UTSW	1	44708669	nonsense	probably null
R4895:Gulp1	UTSW	1	44788597	missense	probably benign
R5208:Gulp1	UTSW	1	44781039	missense	probably benign	0.00
R5244:Gulp1	UTSW	1	44788453	missense	probably damaging	1.00
R5533:Gulp1	UTSW	1	44773281	missense	probably damaging	1.00
R5911:Gulp1	UTSW	1	44754374	missense	possibly damaging	0.55
R6503:Gulp1	UTSW	1	44773380	missense	probably damaging	1.00
R7026:Gulp1	UTSW	1	44781085	missense	possibly damaging	0.65
R7091:Gulp1	UTSW	1	44766134	missense	probably damaging	0.99
R7207:Gulp1	UTSW	1	44766132	missense	possibly damaging	0.61
R8219:Gulp1	UTSW	1	44754341	critical splice acceptor site	probably null
R8669:Gulp1	UTSW	1	44766110	missense	probably benign	0.21
R9001:Gulp1	UTSW	1	44788549	missense	probably benign
R9037:Gulp1	UTSW	1	44754364	missense	probably benign	0.05
R9304:Gulp1	UTSW	1	44754433	nonsense	probably null
Z1176:Gulp1	UTSW	1	44788479	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGGAGACGGTTACTGAGC -3'
(R):5'- AACTTCAAGATTCCAAAGGCTG -3'

Sequencing Primer
(F):5'- CGGTTACTGAGCAAAGCTATTTTATG -3'
(R):5'- CTTCAAGATTCCAAAGGCTGTTACC -3'

Posted On

2017-10-10