Mutagenetix > Incidental Mutation

Incidental Mutation 'R5911:Gulp1'

460967

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

044108-MU

Accession Numbers

Essential gene?

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

Stock #

R5911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44590671-44835998 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44793534 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 65 (Q65L)

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: Q65L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074115
Gene: ENSMUSG00000056870
AA Change: Q65L

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: Q65L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000125506
Gene: ENSMUSG00000056870
AA Change: Q65L

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: Q65L

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000124756
Gene: ENSMUSG00000056870
AA Change: Q65L

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

0.0604

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

92% (77/84)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,350,380 (GRCm39)		probably benign	Het
Acacb	A	T	5: 114,370,951 (GRCm39)	D1731V	probably damaging	Het
Afg3l1	G	A	8: 124,226,778 (GRCm39)	V563I	possibly damaging	Het
Ak7	A	G	12: 105,692,471 (GRCm39)	E175G	probably damaging	Het
Arhgap5	C	T	12: 52,565,525 (GRCm39)	T832I	possibly damaging	Het
Arid4a	A	T	12: 71,116,747 (GRCm39)	T602S	probably damaging	Het
Caps2	C	T	10: 112,001,591 (GRCm39)		probably benign	Het
Ccdc170	G	T	10: 4,508,551 (GRCm39)	E592*	probably null	Het
Clasp1	C	A	1: 118,434,638 (GRCm39)		probably benign	Het
Crhbp	T	A	13: 95,568,564 (GRCm39)	M291L	probably benign	Het
Cyp3a41b	T	A	5: 145,519,349 (GRCm39)	L47F	probably benign	Het
Dgcr6	A	G	16: 17,884,598 (GRCm39)	D82G	probably damaging	Het
Drc7	A	G	8: 95,800,754 (GRCm39)	E592G	probably damaging	Het
Dtl	G	A	1: 191,300,519 (GRCm39)	T115I	probably damaging	Het
Ece2	A	G	16: 20,457,510 (GRCm39)	Y338C	probably damaging	Het
Egr3	A	G	14: 70,316,897 (GRCm39)	D198G	probably damaging	Het
Ereg	A	C	5: 91,222,552 (GRCm39)		probably benign	Het
Esp31	G	C	17: 38,951,933 (GRCm39)		probably null	Het
Faap100	T	C	11: 120,267,958 (GRCm39)	I272V	possibly damaging	Het
Fam3c	T	C	6: 22,328,560 (GRCm39)	D109G	probably damaging	Het
Fam3c	T	A	6: 22,339,299 (GRCm39)	M51L	probably benign	Het
Fcnb	A	T	2: 27,966,701 (GRCm39)	N277K	probably damaging	Het
Fgfr1	A	G	8: 26,009,325 (GRCm39)		probably benign	Het
Gpr158	T	C	2: 21,373,932 (GRCm39)	F289S	possibly damaging	Het
Grik4	C	A	9: 42,502,720 (GRCm39)	V468F	probably damaging	Het
Gtdc1	T	A	2: 44,642,076 (GRCm39)	R168S	probably benign	Het
Gucy2c	C	T	6: 136,699,440 (GRCm39)	G610R	probably damaging	Het
Hectd1	A	T	12: 51,849,035 (GRCm39)	D356E	probably damaging	Het
Hnrnpu	T	C	1: 178,157,737 (GRCm39)		probably benign	Het
Igkv13-57-2	T	C	6: 69,500,971 (GRCm39)		noncoding transcript	Het
Itih4	A	G	14: 30,612,612 (GRCm39)	I213V	possibly damaging	Het
Itpr2	T	C	6: 146,214,441 (GRCm39)	K1469E	probably benign	Het
Jkampl	T	C	6: 73,445,674 (GRCm39)	T292A	probably damaging	Het
Jrk	T	C	15: 74,577,617 (GRCm39)	D556G	possibly damaging	Het
Kctd16	A	T	18: 40,663,905 (GRCm39)	I345F	probably benign	Het
Klhdc1	A	G	12: 69,303,025 (GRCm39)	E187G	possibly damaging	Het
Lrch3	T	C	16: 32,779,833 (GRCm39)	Y111H	probably damaging	Het
Mlh3	A	T	12: 85,315,229 (GRCm39)	V319D	probably damaging	Het
Nsd3	T	C	8: 26,156,092 (GRCm39)	L553P	probably damaging	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or51q1	A	T	7: 103,628,915 (GRCm39)	H172L	probably benign	Het
Or5d38	C	T	2: 87,955,027 (GRCm39)	V101I	probably benign	Het
Or5e1	T	A	7: 108,354,882 (GRCm39)	I273N	probably benign	Het
Or5p66	T	A	7: 107,885,605 (GRCm39)	T243S	probably damaging	Het
Or7g26	T	C	9: 19,230,445 (GRCm39)	I205T	probably benign	Het
Pelp1	C	T	11: 70,287,740 (GRCm39)	R394H	probably damaging	Het
Ppp1r13l	G	T	7: 19,109,817 (GRCm39)		probably null	Het
Prr5	C	A	15: 84,585,635 (GRCm39)	S201*	probably null	Het
Rad23b	T	A	4: 55,370,474 (GRCm39)		probably null	Het
Rasgef1a	T	A	6: 118,061,335 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,738,832 (GRCm39)	I565N	probably damaging	Het
Slc30a5	T	C	13: 100,945,600 (GRCm39)	N527S	probably damaging	Het
Slc39a5	T	A	10: 128,235,812 (GRCm39)	N49Y	probably damaging	Het
Spast	T	A	17: 74,694,058 (GRCm39)	S571T	probably benign	Het
Spdye4c	C	T	2: 128,437,994 (GRCm39)	R245*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tgm7	T	A	2: 120,926,454 (GRCm39)	D480V	probably benign	Het
Thpo	T	A	16: 20,547,546 (GRCm39)	S22C	probably null	Het
Top2a	T	A	11: 98,907,291 (GRCm39)	T180S	possibly damaging	Het
Trim37	T	A	11: 87,087,663 (GRCm39)	Y34*	probably null	Het
Tsc2	T	C	17: 24,819,361 (GRCm39)	E1254G	possibly damaging	Het
Ttc39a	C	T	4: 109,280,168 (GRCm39)	P150L	possibly damaging	Het
Ttc4	T	C	4: 106,525,240 (GRCm39)	D298G	probably damaging	Het
Ttll1	A	G	15: 83,386,482 (GRCm39)	V41A	probably benign	Het
Vmn1r20	C	A	6: 57,408,774 (GRCm39)	H33Q	probably benign	Het
Zan	A	T	5: 137,456,174 (GRCm39)	Y1329N	unknown	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
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'- AGACGGTTACTGAGCAAAGC -3'
(R):5'- CTTCAAGATTCCAAAGGCTGTTAC -3'

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

Posted On

2017-02-28