Mutagenetix > Incidental Mutation

Incidental Mutation 'R7026:Gulp1'

545937

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

045127-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R7026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44590671-44835998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 44820245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 251 (P251S)

Ref Sequence

ENSEMBL: ENSMUSP00000124756 (fasta)

Gene Model

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

AlphaFold

Q8K2A1

Predicted Effect

probably benign
Transcript: ENSMUST00000074525
AA Change: P243S

PolyPhen 2 Score 0.163 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000074115
Gene: ENSMUSG00000056870
AA Change: P243S

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

possibly damaging
Transcript: ENSMUST00000160854
AA Change: P243S

PolyPhen 2 Score 0.646 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000125506
Gene: ENSMUSG00000056870
AA Change: P243S

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162600
AA Change: P251S

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124756
Gene: ENSMUSG00000056870
AA Change: P251S

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (69/70)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	T	19: 43,805,392 (GRCm39)	M749L	probably benign	Het
Abcc2	A	G	19: 43,818,974 (GRCm39)	N1321S	probably benign	Het
Acsm2	T	A	7: 119,191,450 (GRCm39)	V506E	probably damaging	Het
Add2	G	A	6: 86,063,965 (GRCm39)	R88Q	probably benign	Het
Adgra3	A	G	5: 50,118,083 (GRCm39)	V1155A	probably benign	Het
Ahsg	T	A	16: 22,710,963 (GRCm39)	D33E	probably damaging	Het
Alox12b	A	T	11: 69,048,131 (GRCm39)	D20V	possibly damaging	Het
Alppl2	A	G	1: 87,017,420 (GRCm39)		probably null	Het
Ankfn1	A	G	11: 89,530,403 (GRCm39)	*49Q	probably null	Het
Bcl11b	T	C	12: 107,882,851 (GRCm39)	D488G	probably damaging	Het
Bcl2l10	T	A	9: 75,258,364 (GRCm39)	F175L	probably benign	Het
C2cd3	T	A	7: 100,081,299 (GRCm39)	D127E	probably damaging	Het
Cacna1c	C	T	6: 118,614,732 (GRCm39)	V1311I	probably damaging	Het
Cd55b	A	T	1: 130,316,427 (GRCm39)	I374K	probably benign	Het
Cfap36	T	C	11: 29,172,565 (GRCm39)	T267A	probably benign	Het
Cibar2	G	A	8: 120,895,324 (GRCm39)	H193Y	probably damaging	Het
Cog1	T	C	11: 113,540,415 (GRCm39)	L10P	probably damaging	Het
Dnah7a	T	A	1: 53,543,448 (GRCm39)	M2241L	probably benign	Het
Dock10	G	T	1: 80,479,504 (GRCm39)	A1809E	probably benign	Het
Dock7	A	T	4: 98,967,156 (GRCm39)	D255E	probably benign	Het
Exph5	T	C	9: 53,251,728 (GRCm39)	F123L	probably benign	Het
Fbxw27	C	A	9: 109,617,146 (GRCm39)	K118N	possibly damaging	Het
Fscb	C	A	12: 64,518,391 (GRCm39)	S1025I	unknown	Het
Get4	C	T	5: 139,238,358 (GRCm39)	R47W	possibly damaging	Het
Gm3676	G	A	14: 41,366,072 (GRCm39)	S81F	probably benign	Het
Hhatl	T	C	9: 121,617,339 (GRCm39)	D298G	probably benign	Het
Hsf2bp	T	A	17: 32,252,254 (GRCm39)	K60N	possibly damaging	Het
Ints4	T	A	7: 97,168,361 (GRCm39)	V625D	possibly damaging	Het
Iqch	T	A	9: 63,432,421 (GRCm39)	K286*	probably null	Het
Irak1bp1	T	A	9: 82,712,084 (GRCm39)	S2T	possibly damaging	Het
Kdm3b	G	A	18: 34,955,517 (GRCm39)	V1135I	possibly damaging	Het
Lama3	C	A	18: 12,649,605 (GRCm39)	N181K	probably damaging	Het
Lrfn2	T	G	17: 49,404,005 (GRCm39)	S709R	probably benign	Het
Lrp12	T	C	15: 39,743,566 (GRCm39)	H123R	probably damaging	Het
Lrp1b	A	G	2: 41,159,234 (GRCm39)	S1569P	probably damaging	Het
Lrp2	T	G	2: 69,352,131 (GRCm39)	Q635P	probably damaging	Het
Mboat2	T	C	12: 24,998,381 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,954,378 (GRCm39)	T596A	probably benign	Het
Mroh9	T	A	1: 162,888,251 (GRCm39)	M275L	probably benign	Het
Ms4a10	A	C	19: 10,944,869 (GRCm39)		probably null	Het
Myo9a	C	T	9: 59,722,617 (GRCm39)	R560C	probably damaging	Het
Or11h4b	A	G	14: 50,918,716 (GRCm39)	I125T	probably damaging	Het
Or5b107	A	G	19: 13,142,779 (GRCm39)	T134A	probably benign	Het
Or6z1	T	A	7: 6,504,820 (GRCm39)	H135L	probably damaging	Het
Ormdl3	A	G	11: 98,474,808 (GRCm39)	V45A	possibly damaging	Het
Parp4	T	C	14: 56,858,049 (GRCm39)	Y894H	probably benign	Het
Pigo	G	A	4: 43,023,380 (GRCm39)	Q259*	probably null	Het
Prrc2a	G	A	17: 35,380,803 (GRCm39)	P70S	unknown	Het
Rab3ip	A	G	10: 116,773,441 (GRCm39)	I124T	probably benign	Het
Rap1b	A	G	10: 117,654,384 (GRCm39)	I21T	probably benign	Het
Rasgrf2	T	A	13: 92,131,732 (GRCm39)	S642C	probably damaging	Het
Rb1	T	C	14: 73,535,539 (GRCm39)	E106G	probably benign	Het
Reps1	C	A	10: 17,983,437 (GRCm39)	R427S	probably damaging	Het
Rnf213	A	C	11: 119,370,481 (GRCm39)	H4760P	possibly damaging	Het
Rtl1	A	G	12: 109,559,595 (GRCm39)	I748T	probably damaging	Het
Sco1	A	T	11: 66,944,683 (GRCm39)	K102M	probably damaging	Het
Sec16b	T	C	1: 157,362,281 (GRCm39)	M44T	possibly damaging	Het
Slc7a10	T	C	7: 34,898,139 (GRCm39)	M297T	probably damaging	Het
Smchd1	T	C	17: 71,656,662 (GRCm39)	H1935R	probably benign	Het
Sowaha	G	A	11: 53,370,050 (GRCm39)	R229W	probably damaging	Het
Sptlc3	A	T	2: 139,379,608 (GRCm39)	M83L	probably benign	Het
Tbc1d9	T	C	8: 83,968,192 (GRCm39)	V431A	probably benign	Het
Tmem98	A	G	11: 80,712,214 (GRCm39)	E217G	possibly damaging	Het
Trim13	T	A	14: 61,842,562 (GRCm39)	L193*	probably null	Het
Trp53bp2	T	C	1: 182,270,300 (GRCm39)	S367P	probably benign	Het
Tsc2	T	G	17: 24,845,713 (GRCm39)	I202L	probably damaging	Het
Twf2	T	A	9: 106,092,079 (GRCm39)	V312E	probably damaging	Het
Usp34	G	T	11: 23,311,622 (GRCm39)	L471F	probably damaging	Het
Vps37c	A	G	19: 10,683,632 (GRCm39)	D18G	probably damaging	Het
Zfp1010	T	A	2: 176,957,361 (GRCm39)	I46F	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
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
R8219:Gulp1	UTSW	1	44,793,501 (GRCm39)	critical splice acceptor site	probably null
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'- ACATTCTCGGGATAGGAATATGC -3'
(R):5'- GGTTCAATTTGCAAATAGGGATGTG -3'

Sequencing Primer
(F):5'- AGGAATATGCCTGCCTTAGTCAGC -3'
(R):5'- GCAAATAGGGATGTGCTTAGTATTC -3'

Posted On

2019-05-13