Mutagenetix > Incidental Mutation

Incidental Mutation 'R5208:Gulp1'

402117

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

042783-MU

Accession Numbers

Essential gene?

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

Stock #

R5208 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44590671-44835998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 44820199 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 235 (H235Q)

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: H227Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000074115
Gene: ENSMUSG00000056870
AA Change: H227Q

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 benign
Transcript: ENSMUST00000160854
AA Change: H227Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000125506
Gene: ENSMUSG00000056870
AA Change: H227Q

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

probably benign
Transcript: ENSMUST00000162600
AA Change: H235Q

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000124756
Gene: ENSMUSG00000056870
AA Change: H235Q

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: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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
Aadacl4	A	T	4: 144,344,398 (GRCm39)	N58I	probably benign	Het
Adgra3	T	C	5: 50,168,857 (GRCm39)	D163G	probably damaging	Het
Alcam	C	A	16: 52,115,411 (GRCm39)	E236*	probably null	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Aplf	G	T	6: 87,619,008 (GRCm39)		probably null	Het
Arl4a	A	T	12: 40,086,744 (GRCm39)	M1K	probably null	Het
Asic4	A	G	1: 75,427,870 (GRCm39)	D132G	probably damaging	Het
Bbs12	T	C	3: 37,374,422 (GRCm39)	I290T	probably benign	Het
BC024139	A	G	15: 76,008,865 (GRCm39)	S290P	probably benign	Het
Bmp6	G	A	13: 38,653,673 (GRCm39)	A247T	probably benign	Het
Cadps	A	G	14: 12,457,711 (GRCm38)	S1057P	possibly damaging	Het
Caprin1	A	C	2: 103,599,778 (GRCm39)		probably null	Het
Cdc42bpg	G	A	19: 6,371,750 (GRCm39)	R1343K	probably benign	Het
Cdk18	A	T	1: 132,045,218 (GRCm39)		probably null	Het
Cenpf	A	T	1: 189,403,243 (GRCm39)		probably null	Het
Cfhr1	A	T	1: 139,484,068 (GRCm39)		probably null	Het
Chn2	A	T	6: 54,272,786 (GRCm39)	I201F	probably damaging	Het
Chrdl2	A	G	7: 99,673,129 (GRCm39)	D175G	probably damaging	Het
Disp2	G	T	2: 118,622,286 (GRCm39)	R1006L	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Dnah3	C	G	7: 119,631,861 (GRCm39)	D1365H	probably damaging	Het
Efcab8	T	A	2: 153,644,343 (GRCm39)	Y372*	probably null	Het
Eftud2	G	A	11: 102,732,011 (GRCm39)	P768S	probably damaging	Het
Ehmt1	A	C	2: 24,691,545 (GRCm39)	S1170A	probably benign	Het
Gdpd4	A	C	7: 97,664,118 (GRCm39)	K572Q	probably benign	Het
Gm7356	T	C	17: 14,221,456 (GRCm39)	E191G	probably damaging	Het
Gm8674	A	T	13: 50,055,957 (GRCm39)		noncoding transcript	Het
Hormad1	T	C	3: 95,485,418 (GRCm39)	V202A	possibly damaging	Het
Inpp5b	G	A	4: 124,645,110 (GRCm39)	D179N	possibly damaging	Het
Kcnk4	T	A	19: 6,905,069 (GRCm39)	Y194F	possibly damaging	Het
Lars1	A	C	18: 42,350,622 (GRCm39)	S896A	probably benign	Het
Lonp1	A	G	17: 56,924,793 (GRCm39)	V538A	probably damaging	Het
Map3k14	A	T	11: 103,129,972 (GRCm39)	L315Q	probably damaging	Het
Met	T	A	6: 17,526,422 (GRCm39)	Y500*	probably null	Het
Mga	T	G	2: 119,778,462 (GRCm39)	I2093M	possibly damaging	Het
Mpl	T	G	4: 118,313,078 (GRCm39)	I152L	probably benign	Het
Mthfsd	G	A	8: 121,835,058 (GRCm39)		probably benign	Het
Mup4	A	G	4: 59,958,119 (GRCm39)	F150L	probably damaging	Het
Mybph	T	A	1: 134,121,273 (GRCm39)	V11D	probably benign	Het
Or4f54	A	T	2: 111,122,946 (GRCm39)	E111V	probably damaging	Het
Or52n2c	A	G	7: 104,574,933 (GRCm39)	F13L	probably benign	Het
Or5ak20	T	A	2: 85,184,142 (GRCm39)	I43F	probably benign	Het
Pde4a	T	C	9: 21,114,854 (GRCm39)		probably null	Het
Pex2	C	T	3: 5,626,428 (GRCm39)	R127H	probably benign	Het
Pgap3	A	G	11: 98,288,874 (GRCm39)	W94R	probably damaging	Het
Prl4a1	T	C	13: 28,202,467 (GRCm39)	V14A	probably benign	Het
Psg25	A	T	7: 18,260,460 (GRCm39)	I146N	probably benign	Het
Ptprn2	A	G	12: 116,822,548 (GRCm39)	Y209C	probably damaging	Het
Scart2	C	A	7: 139,877,949 (GRCm39)	A977D	probably benign	Het
Sema4c	T	A	1: 36,589,407 (GRCm39)	D573V	probably damaging	Het
Setx	A	T	2: 29,056,379 (GRCm39)	I2192F	possibly damaging	Het
Skic3	G	A	13: 76,295,886 (GRCm39)	E1050K	possibly damaging	Het
Sp4	A	G	12: 118,263,281 (GRCm39)	L255P	probably damaging	Het
Spaca7	A	G	8: 12,636,456 (GRCm39)	Y94C	probably damaging	Het
Stt3a	T	G	9: 36,657,891 (GRCm39)	I390L	possibly damaging	Het
Tars2	A	G	3: 95,654,905 (GRCm39)	W128R	probably damaging	Het
Tll1	G	A	8: 64,504,527 (GRCm39)	T623M	probably damaging	Het
Tmem129	A	T	5: 33,812,850 (GRCm39)	V166E	probably damaging	Het
Tmem200a	T	A	10: 25,870,051 (GRCm39)	I73F	probably benign	Het
Tnks1bp1	T	C	2: 84,900,976 (GRCm39)	M1561T	probably damaging	Het
Zfat	A	T	15: 68,052,570 (GRCm39)	I401N	probably damaging	Het
Zfp142	A	T	1: 74,610,027 (GRCm39)	V1153E	probably benign	Het
Zwilch	T	C	9: 64,060,205 (GRCm39)	I354V	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
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
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'- CCCATCCTCAAATGTGTTCACG -3'
(R):5'- GGTTCAATTTGCAAATAGGGATGTG -3'

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

Posted On

2016-07-22