Mutagenetix > Incidental Mutation

Incidental Mutation 'R8219:Gulp1'

636522

Institutional Source

Beutler Lab

Gene Symbol

Gulp1

Ensembl Gene

ENSMUSG00000056870

Gene Name

GULP, engulfment adaptor PTB domain containing 1

Synonyms

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

MMRRC Submission

067659-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R8219 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44590671-44835998 bp(+) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 44793501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125506 (fasta)

Gene Model

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

AlphaFold

Q8K2A1

Predicted Effect

probably null
Transcript: ENSMUST00000074525

SMART Domains

Protein: ENSMUSP00000074115
Gene: ENSMUSG00000056870

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

Predicted Effect

probably benign
Transcript: ENSMUST00000159555

Predicted Effect

probably null
Transcript: ENSMUST00000160854

SMART Domains

Protein: ENSMUSP00000125506
Gene: ENSMUSG00000056870

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

Predicted Effect

probably null
Transcript: ENSMUST00000162600

SMART Domains

Protein: ENSMUSP00000124756
Gene: ENSMUSG00000056870

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.7%

Validation Efficiency

100% (62/62)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,833,363 (GRCm39)	S80T	unknown	Het
Acnat1	T	A	4: 49,447,748 (GRCm39)	I278F	probably benign	Het
Adgrf5	A	T	17: 43,760,750 (GRCm39)	Q815L	probably benign	Het
Aff1	T	A	5: 103,994,199 (GRCm39)	Y1022N	probably damaging	Het
Ahi1	A	G	10: 20,950,335 (GRCm39)	K1034E	probably benign	Het
Ano8	A	T	8: 71,933,357 (GRCm39)	L645Q	unknown	Het
Atg9b	A	G	5: 24,591,330 (GRCm39)	L756P	probably damaging	Het
Atp2b2	A	T	6: 113,770,811 (GRCm39)	I411N	probably damaging	Het
Bmp6	T	A	13: 38,529,963 (GRCm39)	C19S	unknown	Het
Borcs5	A	G	6: 134,621,313 (GRCm39)	H27R	probably benign	Het
Cachd1	C	A	4: 100,848,159 (GRCm39)	D1091E	probably benign	Het
Ccdc186	T	A	19: 56,781,777 (GRCm39)	M801L	probably benign	Het
Clcn3	A	T	8: 61,376,000 (GRCm39)	M658K	probably damaging	Het
Col1a1	C	T	11: 94,834,184 (GRCm39)	R500C	probably damaging	Het
Cul4a	T	A	8: 13,196,540 (GRCm39)	D731E	possibly damaging	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
E2f7	T	A	10: 110,595,704 (GRCm39)	V133E	probably damaging	Het
Fam161b	T	C	12: 84,393,648 (GRCm39)	E575G	probably benign	Het
Fubp1	T	A	3: 151,926,103 (GRCm39)	V275D	probably damaging	Het
Gabrg1	T	A	5: 70,931,643 (GRCm39)	R367*	probably null	Het
Gm6902	G	A	7: 22,973,143 (GRCm39)	A128V	probably benign	Het
Gnptab	A	G	10: 88,269,654 (GRCm39)	T786A	probably benign	Het
Golga2	A	G	2: 32,196,492 (GRCm39)	N981D	probably damaging	Het
Gsap	A	T	5: 21,456,113 (GRCm39)	I437L	probably benign	Het
Kcnn1	T	C	8: 71,305,499 (GRCm39)	Y237C	probably damaging	Het
Klhl28	A	T	12: 64,998,431 (GRCm39)	N354K	probably benign	Het
Lama3	T	C	18: 12,572,417 (GRCm39)	Y541H	probably benign	Het
Lamc1	A	G	1: 153,123,073 (GRCm39)	Y706H	probably damaging	Het
Lima1	G	T	15: 99,678,671 (GRCm39)	T590K	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mrgprb8	G	A	7: 48,038,649 (GRCm39)	V107M	possibly damaging	Het
Mrpl3	T	A	9: 104,934,271 (GRCm39)	N139K	possibly damaging	Het
Nhsl3	T	A	4: 129,141,946 (GRCm39)	D65V	possibly damaging	Het
Nudt16	T	A	9: 105,007,636 (GRCm39)	N161I	probably damaging	Het
Obscn	G	A	11: 59,013,574 (GRCm39)	S1091L	probably benign	Het
Oog4	T	C	4: 143,166,508 (GRCm39)	M99V	probably benign	Het
Or5b105	A	C	19: 13,080,284 (GRCm39)	L122R	probably damaging	Het
Or8c16	A	C	9: 38,130,668 (GRCm39)	D183A	probably damaging	Het
Osbpl6	A	T	2: 76,386,247 (GRCm39)	D303V	probably damaging	Het
Pcdhb21	T	C	18: 37,647,708 (GRCm39)	F279S	probably damaging	Het
Peg3	G	A	7: 6,711,364 (GRCm39)	T1286I	probably benign	Het
Phax	A	G	18: 56,708,754 (GRCm39)	N106S	probably damaging	Het
Pkdrej	A	G	15: 85,705,493 (GRCm39)	Y148H	probably damaging	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Ptprn2	C	A	12: 117,148,357 (GRCm39)	Q706K	probably benign	Het
Rdh11	T	G	12: 79,235,880 (GRCm39)	K23Q	probably benign	Het
Rit2	T	A	18: 31,108,547 (GRCm39)	E146V	probably damaging	Het
Rnf141	T	C	7: 110,436,472 (GRCm39)		probably benign	Het
Sars1	T	A	3: 108,352,378 (GRCm39)	E24V	probably benign	Het
Sh3tc2	A	G	18: 62,144,932 (GRCm39)	I1129V	probably benign	Het
Slc10a5	G	T	3: 10,400,384 (GRCm39)	P92Q	probably benign	Het
Slc24a5	A	T	2: 124,927,575 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,757,561 (GRCm39)	Y517C	probably damaging	Het
Slc6a5	A	G	7: 49,561,911 (GRCm39)	M148V	probably benign	Het
Sorl1	T	C	9: 41,952,857 (GRCm39)		probably null	Het
Tgm4	A	T	9: 122,874,117 (GRCm39)	Y119F	probably benign	Het
Tgm6	A	G	2: 129,993,200 (GRCm39)	K562R	probably benign	Het
Tlr3	T	C	8: 45,851,016 (GRCm39)	E627G	possibly damaging	Het
Tmprss11f	A	G	5: 86,677,878 (GRCm39)	L297P	probably damaging	Het
Tpbgl	T	C	7: 99,274,978 (GRCm39)	H293R	probably benign	Het
Trank1	A	C	9: 111,193,977 (GRCm39)	K667T	probably damaging	Het
Trpm1	A	T	7: 63,851,699 (GRCm39)	Q139L	probably benign	Het
Ttf2	T	G	3: 100,869,879 (GRCm39)	K398T	possibly damaging	Het
Xpa	A	T	4: 46,183,150 (GRCm39)	M213K	probably benign	Het
Zmym2	T	A	14: 57,163,316 (GRCm39)	S623T	probably benign	Het

Other mutations in Gulp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01446:Gulp1	APN	1	44,783,708 (GRCm39)	splice site	probably benign
IGL02439:Gulp1	APN	1	44,820,164 (GRCm39)	missense	probably damaging	0.96
IGL03410:Gulp1	APN	1	44,747,777 (GRCm39)	missense	probably damaging	0.97
guzzle	UTSW	1	44,747,829 (GRCm39)	nonsense	probably null
R1746:Gulp1	UTSW	1	44,793,513 (GRCm39)	missense	possibly damaging	0.81
R1990:Gulp1	UTSW	1	44,805,274 (GRCm39)	missense	possibly damaging	0.92
R4166:Gulp1	UTSW	1	44,747,829 (GRCm39)	nonsense	probably null
R4895:Gulp1	UTSW	1	44,827,757 (GRCm39)	missense	probably benign
R5208:Gulp1	UTSW	1	44,820,199 (GRCm39)	missense	probably benign	0.00
R5244:Gulp1	UTSW	1	44,827,613 (GRCm39)	missense	probably damaging	1.00
R5533:Gulp1	UTSW	1	44,812,441 (GRCm39)	missense	probably damaging	1.00
R5911:Gulp1	UTSW	1	44,793,534 (GRCm39)	missense	possibly damaging	0.55
R6164:Gulp1	UTSW	1	44,793,511 (GRCm39)	missense	probably damaging	0.98
R6503:Gulp1	UTSW	1	44,812,540 (GRCm39)	missense	probably damaging	1.00
R7026:Gulp1	UTSW	1	44,820,245 (GRCm39)	missense	possibly damaging	0.65
R7091:Gulp1	UTSW	1	44,805,294 (GRCm39)	missense	probably damaging	0.99
R7207:Gulp1	UTSW	1	44,805,292 (GRCm39)	missense	possibly damaging	0.61
R8669:Gulp1	UTSW	1	44,805,270 (GRCm39)	missense	probably benign	0.21
R9001:Gulp1	UTSW	1	44,827,709 (GRCm39)	missense	probably benign
R9037:Gulp1	UTSW	1	44,793,524 (GRCm39)	missense	probably benign	0.05
R9304:Gulp1	UTSW	1	44,793,593 (GRCm39)	nonsense	probably null
Z1176:Gulp1	UTSW	1	44,827,639 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTAAATTATGATGGCAAATGGAGACG -3'
(R):5'- TCAAGATTCCAAAGGCTGTTACC -3'

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

Posted On

2020-07-13